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1-Theme:Vitamin Dependant States

AAscorbic

Acid

BBiotin

CCobalamin

DFolate

ENiacin

FPyridoxine

GRetinol

HRiboflavin

IThiamine

JVitamin EWhich of the above options best fit the statements below?

A deficiency leads to nyctalopia.

Incorrect - The correct answer is Retinol

A deficiency leads to Pellagra.

Incorrect - The correct answer is Niacin

A deficiency results in dermatitis and seborrhoea.

Incorrect - The correct answer is Biotin

Vitamin E

Ascorbic Acid

Retinol

Retinal is another term for vitamin A. Deficiency results in ocular manifestations and visual impairment, e.g. nyctalopia, photophobia, xerophthalmia and keratoconjunctivits. Niacin is a constituent of coenzyme.essential for metabolism. A deficiency results in Pellagra. Biotin is a constituent of co-enzymes involved in CO2 transfer. .A deficient state results in dermatitis and seborrhea.

2-A 4-year-old girl is referred with behavioural problems. Her speech is generally well-formed. However, she finds it difficult to sustain conversations because she talks obsessively about her own interests. She avoids eye contact. She plays on her own for hours with her dolls, dressing and undressing them repeatedly. Attempts to play with others results in tantrums. Born at 39+6/40, 3.18kg no neonatal problems. No drugs, allergies. Fully immunised. No FH/SH of note.

On examination she is on the 50% for height and weight. There are no specific abnormalities to find.

What is the most likely diagnosis?

(Please select 1 option)

Autism Incorrect answer selected

Chronic secretory otitis media

Global developmental delay

Pervasive developmental disorder This is the correct answer

Speech delay, isolated

This child has problems with reciprocal social interaction, with repetitive obsessive play. Her speech is normal in form. These symptoms are characteristic of Asperger syndrome. This is part of the spectrum of Pervasive Developmental Disorders, and is regarded by some as 'high-functioning autism'. Such children may be regarded as eccentric by their peers.

3-A 15-year-old boy plays competitive football. Following an accidental clash of heads he initially seems to recover, but a few minutes later he has a 5 minute generalised convulsion. This starts with eye-rolling, then stiffness of all limbs, followed by rhythmic shaking and incontinence. He is placed in the recovery position and an ambulance called. He is generally fit and well. Full term normal delivery with no neonatal complications. Immunisations up to date. There is no FH/SH of note.

On examination he is slightly drowsy but responds to voice. RR is 12/min and HR 70/min. There are no abnormalities to find except bilaterally up-going plantars. BM stix shows a glucose of 5.4 mmol/l.



Drug ingestion

Extradural haematoma Incorrect answer selected

Idiopathic epilepsy

Post-traumatic seizure This is the correct answer

Subdural haematoma

The history suggests a brief generalised seizure following a minor head injury. This is likely to have no long-term sequelae. A single episode cannot be considered epilepsy. About 5% of children will have at least 1 seizure during their lives, mostly related to fever. Fatigue, particularly with alcohol ingestion, is another common trigger.

4-A 17-year-old woman presented six hours after taking 30 g of paracetamol.

Which of the following factors is most likely to predict an increased risk of hepatotoxicity from the paracetamol?


Anorexia nervosa This is the correct answer

Consumption of 20 units of alcohol since taking the paracetamol Incorrect

answer selected

Gilbert's disease

Ingestion of amitriptyline with the paracetamol

Smoking 20 cigarettes per day

High risk groups in paracetamol overdose include:

malnourished patients (anorexia nervosa/bulimia

nervosa)

patients taking enzyme inducing drugs (e.g.

carbamazepine, phenytoin, rifampicin and St

John's wort)

patients with induced liver enzymes due to

chronic ethanol abuse

human immunodeficiency virus (HIV) positive

patients.

See review in Clinical Medicine Vol 3 No 2 2003 .

5-A 17-year-old girl with mild Von Willebrand’s disease is scheduled for dental extraction. A previous dental extraction resulted in bleeding that had required two unit transfusion. What is the most appropriate treatment prior to dental surgery?


Cryoprecipitate

DDAVP This is the correct answer

Fresh frozen plasma Incorrect answer selected

High purity factor VIII concentrate

Recombinant factor VIII concentrate

DDAVP is the choice treatment for mild vonWillebrand disease, which would include Type I, and the majority of Type II, although there is some controversy in Type II B as it is thought that DDAVP can exacerbate thrombocytopenia that can accompany this type of Von Willebrand's.It is of no use in Type III – severe Von Villebrand's disease. The history tells us that she has mild disease.

You would not use cryoprecipitate or Fresh frozen plasma in these patients in this era due to potential viral transmission risk from blood products. For severe disease you would use a Von Willebrand factor concentrate, not factor VIII concentrate.

6-What proportion of the total number of children born with some degree of hearing impairment are detected by neonatal screening of babies considered at 'high-risk' of having congenital hearing loss?


25%

50% This is the correct answer

75%

95% Incorrect answer selected

100%

A number of risk factors are associated with neonatal hearing loss. Traditional newborn screening methods involve screening of only these high-risk infants. The risk factors considered include: family history of hearing loss, prematurity, low birth weight, neonatal jaundice, rubella or

non-bacterial intrauterine infection, anoxia, craniofacial deformity, bacterial meningitis and Apgars score of 0-3.

Only half of the total number of children born with a hearing impairment is detected by these high-risk screening programs. The other half has no obvious risk factors to alert parents or professionals to the presence of the hearing loss. For each child detected by high-risk screening, another child goes home undetected. Universal newborn hearing screening is now being introduced to ensure most children have their hearing loss detected from birth.

7-Relating to fractures in children:-


The periosteum is thicker and more highly developed. Correct

Bone is generally more brittle.

Healing is usually prolonged

Angulation and displacement of fractures are poorly tolerated.

Stiffness of adjacent joints is common following fracture immobilisation.

Fractures in children usually heal quicker than similar fractures in adults. The bone is more elastic. Due to the remodelling potential of paediatric fractures angulation and displacement, if not excessive, is usually well tolerated. Immobilization of fractures is also well tolerated in general. The periosteum in children is thick and can often be used as an aid to hold reduction.

8-A post-marketing surveillance study of a new heart failure therapy to the market was carried out on 10,000 subjects who had completed clinical trials. Which one of the following most accurately reflects the information generated from such a study?


Adverse events profile This is the correct answer

Cost benefit analysis

Cost effectiveness

Comparative therapeutic efficacy Incorrect answer selected

Drug potency

Post-marketing surveillance/observational studies (phase IV studies) generally are designed to assess the potential side effects of new drugs but under everyday conditions and with a minimum of intervention. In contrast to the randomized controlled trials, PMS typically include patients

from more extreme age groups, patients with comorbidity or other risk factors. In order to cover a wide spectrum of patients and to observe rare events with sufficiently high probability, PMS enroll a large number of patients, typically several thousands. Comparative efficacy has already been undertaken in Phase III studies (RCTs) but can also be undertaken as part of specific RCT studies later in the drugs development and potency usually in phase I and II studies.

9-A 17 month old girl presents with eye-rolling followed by generalised shaking of the limbs for 3 minutes. She has had a cold for 3d, but became very warm this afternoon just prior to the episode. No previous history of note, Full term normal delivery with no neonatal complications. Immunisations up to date. There is no FH/SH of note.

On examination she alert though febrile at 39.8°C, with flushed cheeks. She has a crusty nasal discharge. Respiratory rate is 20/min and heart rate 120/min. Chest is clear and urinalysis negative.



Cerebral abscess

Encephalitis

Febrile convulsion, complex

Febrile convulsion, simple Correct

Meningitis

The history is of a febrile child having a brief generalised convulsion with rapid recovery. The likely precipitant is a viral URTI. The picture is typical of a Simple Febrile Convulsion. Parents should be advised that the prognosis is excellent, though 30% may have further febrile seizures. They should be told how to control fever (strip down, antipyretics, room at 19C, and tepid sponge of head).

10-Theme:Drugs During Pregnancy

AAminoglycosides

BAspirin

CBeta Blockers

DLithium

EPhenytoin

FPethidine

GSodium Valproate

HSulphonamides

IThiazide diuretics

JWarfarinSelect the drug from the above list of options that is most likely to be associated with the following effects if taken during pregnancy:

This drug taken in early pregnancy may result in Ebstein's anomaly in 3% of cases.

Correct

This drug may result in a neural tube defect in approximately 2% of cases.

Correct

This drug, when taken in pregnancy may result in a baby being born with cranio-facial abnormalities, growth impairment and learning difficulties.

Incorrect - The correct answer is Phenytoin

Lithium, a drug used in the treatment of bipolar affective disorder. If given in early pregnancy is associated with a wide variety of cardiac defects with approximately 8% having severe cardiac disease, Ebstein's anomaly being the most common (3% of all cases).Sodium Valproate tends to induce a neural tube defect in approximately 2% of pregnancies and therefore should be avoided. It is also associated with abnormalities of the face and digits, compromising the foetal Valproate syndrome.Phenytoin is well known for causing the foetal hydantoin syndrome, compromising cranio-facial abnormalities and learning difficulties as well as growth impairment.

11-Features consistent with Henoch-Schönlein syndrome include

True / False

Lithium

Sodium Valproate

Warfarin

An onset at 3 years Incorrect answer selected

Microscopic haematuria Correct

Proteinuria Correct

An urticarial rash over the face Incorrect answer selected

A joint effusion with polymorphonuclear leucocytosis of the synovial fluid Correct

Henoch-Schonlein purpura (HSP) peak incidence is at three years of age.

An urticarial rash can occur, and it usually presents on the face and legs, though the typical non-thrombocytopenic purpura is much more common in HSP.

12-A 5-year-old boy presents to Accident and Emergency complaining of acute pain over his upper tibia. He is febrile and he refuses to move his leg. A diagnosis of osteomyelitis is suspected.

What is the likely infecting organism?


Clostridium difficile

Haemophilus influenzae

Pseudomonas

Salmonella

Staphylococcus aureus Correct

The commonest infecting organism in acute osteomyelitis in children over the age of four years is Staphylococcus aureus.

With immunisation, cases of haematogenous osteomyelitis due to Haemophilus influenzae have almost been eradicated.

Salmonella is the characteristic organism in sickle cell anaemia.

Pseudomonas infection is a common organism in haemodialysis patients and intravenous drug addicts.

13-A 17-year-old primigravida complains of constipation and arthralgia at 28 weeks gestation. A number of biochemical investigations are performed, but which of these are clinically significant?


Detectable urinary human chorionic gonadotrophin

Free thyroxine 8.9 pmol/L (9-22) Incorrect answer selected

Prolactin of 1000 mU/L (<450)

Serum alkaline phosphatase of 350 iu/L (50-110)

Serum corrected calcium 2.89 mmol/L (2.2-2.6) This is the correct answer

This patient has symptoms suggestive of hypercalcaemia, which are clinically significant.

Free T4 is at the lower end of the normal range which is often the case in pregnancy and TSH is a better guide of thyroid function.

Hyperprolactinaemia is a normal finding in pregnancy, as is detectable urinary human chorionic gonadotrophin.

It is also normal for serum alkaline phosphatase to rise by up to 4 times normal due to increased placental production.

14-The following are risk factors for child abuse:

True / False

Infant separated from mother for more than 24 hours post-delivery.

Correct

Infant mentally or physically handicapped. Correct

Macrosomic child Correct

Maternal smoking Incorrect answer selected

Less than 18 months between the birth of children Correct

Unfortunately, child abuse is a common and important problem. About 40-50,000 case conferences are held each year in England. In 1993, 37% were for physical injury, 26% for neglect, 26% for sexual abuse, and 11% for emotional abuse. Risk factors include:

Family history of violence.

Parent indifferent, intolerant or overanxious

towards the child.

Single or separated parent.

Socio-economic problems such as unemployment.

History of mental illness, drug or alcohol

addiction.

Parent abused or neglected as a child.

Infant premature or low birth weight.

Infant separated from mother for more than 24

hours post-delivery.

Mother less than 21 years old at the time of birth.

Step-parent or co-habitee present.

Less than 18 months between the births of

children.

Infant mentally or physically handicapped.

15-A 3-year-old girl is brought in by ambulance from a house fire. He has extensive areas of peeling skin over the trunk and face, with blackening around the mouth and nostrils. Full term normal delivery, no neonatal problems. Immunisations up to date. No family or social history of note.

On examination the temperature is 36.7°C, respiratory rate 25/min, pulse 130/min. Capillary refill time of 3 seconds. 40% of 2nd and 3rd burns over the trunk and face.

What is the most important part of management?


Analgesia Incorrect answer selected

Bag and mask ventilation

Face mask oxygen

Intubation This is the correct answer

IV fluid bolus

The picture is one of severe burns and smoke inhalation. Shock can occur in the first few hours from loss of large amounts of plasma from denuded skin. The airway should be secured by immediate intubation before it becomes too oedematous and occludes completely. 100% O2 should be given, as pulmonary oedema can be anticipated. Two large-bore cannulae should be inserted and 20 ml/kg of N. saline given. Maintenance and continuing losses should be calculated from the time of the fire.

16-In diabetic ketoacidosis:

True / False

bicarbonate should be given if pH is less than 7.20 Correct

corticosteroids should be given Correct

initial fluid resuscitation should be with normal saline Correct

the initial blood glucose level indicates the severity Incorrect answer

selected

potassium often needs to be replaced Incorrect answer selected

The treatment initially consists of fluid resuscitation with normal saline, insulin infusion, replacement of potassium and treatment of the precipitating cause. Bicarbonate should be considered only if the pH is less than 7.0. The initial blood glucose is a poor indicator of severity. Steroids may worsen hyperglycaemia.

17-Overwhelming septicaemia in post-splenectomy patients:

True / False

Can usually be prevented with prophylactic penicillin. Correct

Is more common in children <5 years. Correct

Is only a significant problem for two/three years post splenectomy.

Correct

Is due to hypogammaglobulinaemia. Correct

Is less common if splenectomy is for traumatic rupture. Correct

Because of the risk of post-operative sepsis, splenectomy should be limited to specific indications. These include: splenic rupture, anatomic defects, haemolytic anaemia, immune cytopaenia, metabolic storage disease, secondary hypersplenism.

There is an increased risk of sudden overwhelming infection (sepsis or meningitis). The risk is increased in children under 5, and is decreased in splenectomies done for trauma, red cell membrane defects, immune cytopaenias. Encapsulated bacteria (Strep. pneumoniae, Haemophilus influenzae, neisseria meningitidus, Escherichia coli) are commonest. The spleen is responsible for filtering the blood and for early antibody responses. There is also an increased risk of malaria.

The operation should be postponed until the patient is over 5, and pre-operatively, the child should be vaccinated with pneumovax, Hib, and meningococcal A and C vaccines. In the case of trauma, splenic repair or partial splenectomy may be possible. Post-splenectomy penicillin reduces

the risk of pneumococcal sepsis, but does not eliminate it. The appropriate duration of prophylaxis is unknown.

18-The following may indicate underlying severe combined immunodeficiency:

True / False

Platelet count of 40 Correct

Absolute lymphocyte count of 0.8 x 109/L Incorrect answer selected

Generalised lymphadenopathy Correct

Conjunctival telangiectasia Correct

Failure to thrive Incorrect answer selected

Severe combined immune deficiency is a clinical syndrome, with a vast number of underlying potential causes. Other clinical categories include combined immune deficiency, and T cell defects, where a secondary problem with immunoglobulin formation is almost inevitable, given the regulatory role of the CD4 cells and the cytokines they produce. In severe combined immune deficiency, the immune deficiency involves the absence of T and B cell function from birth.

Examples of each category include:

Severe: Adenosime Deaminase Deficiency (ADA),

X-SCID 1L2y deficiency, T+B+SCID, NK+ SCID.

Less Severe: Wiskott-Aldrich Syndrome, MHC

class I and II deficiency, Omenn's Syndrome,

ataxia telangiectasia, Hyper-IgE Syndrome, and

purine nucleoside phosphorylase deficiency (PNP

deficiency).

SCID: Clinical spectrum of great genetic diversity

where ID involves absence of T & B cell function

from birth

19-A 6-year-old girl presents with neck swelling and breathlessness, worsening over 6 weeks. She has felt increasingly tired and unwell. Full

term normal delivery, no neonatal problems. Immunisations up to date. No family or social history of note.

On examination the temperature is 36.7°C, respiratory rate 25/min and pulse 95/min. She looks unwell and has large rubbery enlargement of glands in the right lateral neck area. She is slightly breathless at rest, with stony dullness to percussion and decreased breath sounds in the right base.



HIV infection

Infectious mononucleosis

Kawasaki disease

Lymphoma This is the correct answer

Tuberculosis Incorrect answer selected

The history suggests pleural effusion and lymphatic infiltration. The most likely diagnosis is a lymphoblastic lymphoma. A chest X-ray often shows a round lesion arising from the mediastinum. Staging involves CT scans of the neck and thorax, and detailed histology.Dissemination to the bone, marrow, skin and CNS is not uncommon.

20-Which one of the following statements correctly applies to a child being treated for leukaemia?


Meningeal leukaemia is completely preventable

Uric acid nephropathy occurs in remission Incorrect answer selected

Male sex carries a favourable prognosis

Passive protection with hyperimmune gammaglobulin should be given for

measles This is the correct answer

Treatment will usually result in infertility

Prophylactic intrathecal chemotherapy and cranial radiation does not prevent meningeal leukaemia in all cases. Uric acid nephropathy occurs when there are high levels of circulating blasts and cell breakdown is occurring, eg during chemotherapy. Males have a worse prognosis and receive a longer duration of treatment. Passive protection against measles should be given, as the immune response to the vaccine will be inadequate. Infertility is not common, however in males testicular relapse may occur.

21-Theme:Abdominal Pain

AAcute gastro-enteritis

BAppendicitis

CConstipation

DDiabetes Mellitus

EHenoch Schonlein Purpura

FMesenteric Adenitis

GNephroblastoma

HPancreatitis

ISickle Cell crisis

JWilm's Tumour

Select one option from the list above that is most suitable for the following patients

A 12-year-old boy with a 3 week history of coryza is brought to A&E complaining of severe abdominal pain. He has swollen ankles and palpable lesions on his buttocks, which do not disappear with pressure.

Correct

Henoch Schonlein purpura also known as anaphylactoid purpura has an unknown aetiology. Children present with abdominal pain, possibly melaena due to haemorrhage and oedema of the gut wall. They may have a flitting arthritis affecting large joints. The nephritis presents with microscopic haematuria and proteinuria and the macular, papular, purple rash is rather characteristic with buttocks and extensive surfaces of the legs and arms being affected.

A 10-year-old girl has just returned from Thailand. She is brought to history of severe diarrhoea associated with abdominal pain. Her mother, a known diabetic, has similar symptoms.

Correct

relates to a child with gastroenteritis. In the developed world gastroenteritis is very common and usually mild. 60% of cases are due to viruses for example

Henoch Schonlein Purpura

Acute gastro-enteritis

Rotavirus. In bacterial gastroenteritis; fever is common and children present with colicky abdominal pain, vomiting, diarrhoea and possibly dehydration.

A 12-year-old girl with a 2 month history of weight loss and increased appetite weight loss is brought to Casualty with severe abdominal pain. She denies any history of vomiting or excessive exercise. Her mother says that the child has been wetting her bed over the past 4 months.

Correct

describes a child with diabetes mellitus. The commonest metabolic / endocrine problem in childhood. Diabetes mellitus results from low Insulin levels resulting in abnormal metabolism of carbohydrate, protein and fats. Children present with polyuria, polydipsia and polyphagia. Children sometimes complain of abdominal discomfort and there is a history of weight loss.

22-Regarding screening programmes:

True / False

For hypothyroidism uses B. subtilis. Incorrect answer selected

For haemaglobinopathies involves electrophoresis. Correct

For cystic fibrosis is universal. Incorrect answer selected

For Down's syndrome has virtually eliminated the condition. Correct

For neural tube defect has virtually eliminated the condition. Correct

Screening tests (Cochrane and Holland) should be:

Simple, quick and easy to interpret.

Acceptable.

Accurate.

Repeatable.

Sensitive.

Specific.

The yield of a screening programme is defined as the number of new previously unsuspected cases per 100 cases screened. Screening programmes for PKU and congenital hypothyroidism are well established.

Diabetes Mellitus

They are thought to be extremely cost effective. In congenital hypothyroidism, the level of TSH at the time of diagnosis is an important prognostic marker. If it is very high, impairment of neurological development may not be fully reversible. Screening for PKU uses a bioassay, bacillus subtlis strains that grow only in high concentrations of phenylalanine. Antibiotics may interfere with this test. The 2 most important haemoglobinopathies are sickle cell disease and thalassaemias. About 3.3% of the UK population belongs to a racial group at significant risk. Screening should be universal in districts where the ethnic groups concerned make up more than 10% of the antenatal clinic population. Screening procedures usually involve either electrophoresis of a blood spot from the Guthrie card, or using separate capillary specimens. The argument for screening for cystic fibrosis is less clear, but it will soon become universal. Screening for Down's Syndrome using the triple test identifies approximately 60% of cases antenatally. Screening for neural tube defects using alpha-fetoprotein has dramatically reduced the incidence of open spina bifida. Closed forms continue to be born.

23-Regarding cerebral palsy:

True / False

The incidence is 2 per 100 live births. Correct

Visual impairment occurs in 50%. Incorrect answer selected

Hearing loss is present in 5%. Correct

Epilepsy is present in 40%. Correct

Learning impairment is present in 30%. Correct

Cerebral palsy is a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain. The clinical manifestations tend to evolve with age. The incidence is 2 per 1000 live births, and other problems are common and are reflecting more widespread damage to the brain. These include:

Learning impairment in 60%.

Epilepsy in 40%.

Squints in 30%.

Hearing loss and visual impairment in 20%.

Speech and language disorders.

In addition, there may be considerable behavioural problems.

24-Which of the following is conditions is associated with mutation in fibroblast growth factor receptor 3 (FGFR3) gene?


Retinoblastoma

Achondroplasia This is the correct answer

Neurofibromatosis type 1

Huntington disease

Marfan syndrome Incorrect answer selected

Mutations in the fibroblast growth factor receptor 3 cause achondroplasia.

Neurofibromatosis type 1 is caused by a mutation of the neurofibromin gene (which may act as a tumour suppressor) on chromosome 17q.

Marfan patients have mutations of the chromosome 15 gene encoding fibrillin, a connective tissue protein.

25-A drug which undergoes high first pass metabolism

True / False

is excreted largely unchanged in the urine Correct

can only be administered parenterally Correct

is extensively metabolised by the liver Correct

has a high extraction ratio Correct

the extraction ratio is reduced in chronic liver disease Correct

First pass hepatic metabolism implies extensive metabolism following absorption of from the gut. Absorption of these agents is usually excellent (drugs may be lipo or hydro- philic) and can be administered orally with increase of the dose (eg oestrogens, MST, ISDN). The extraction ratio depends upon liver function and is usually high (more drug removed following first pass).

26-Theme:Presentation of infectious disease in childhood

AChicken Pox

BHerpes simplex

CInfectious mononucleosis

DMeasles

EMumps

FMycoplasma

GPertussis

HRubella

ITuberculosisFor each presentation of infectious disease choose the single most likely diagnosis from the list of options.

Commonly causes an acute gingivostomatitis.

Correct

Herpes simplex - the majority of children have benign manifestations of primary infection with Herpes simplex, for example a gingival stomatitis. The virus is readily spread by direct contact especially to damaged skin e.g. eczema.

Causing an acute parotitis

Correct

Mumps infection is now uncommon due to the vaccination. It is caused by a paramyxovirus and usually causes minimal symptoms. The most common manifestation being an acute parotitis although severe infection with mumps may result in meningoencephalitis plus deafness.

Causing an exudative tonsillitis.

Correct

Glandular fever is also called infectious mononucleosis. It is caused by Epstein-Barr virus and usually presents with an exudative pharyngitis or tonsillitis and cervical lymphadenopathy. It may cause a transient impairment of cellular and humeral immunity, which is usually self limiting

27-Recognised findings in bulimia include:

True / False

Herpes simplex

Mumps

Infectious mononucleosis

Calluses on the dorsal surface of the hand. Correct

Dental inspection may be helpful. Correct

Hypokalaemia Correct

Body mass index <16 Correct

Abnormal perception of body size Incorrect answer selected

Bulimia is defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) as:

1. Recurrent episodes of binge eating (rapid consumption of

a large amount of food in a period of less than 2 hours).

2. A fear of not being able to stop eating during binges.

3. Regular self-induced vomiting, use of laxatives, or

rigorous dieting or fasting to counteract the effects of

binge eating.

4. A minimum average of 2 binge eating episodes per week

for at least 3 months.

5. Self-evaluation unduly influenced by body weight and

shape, but the disturbance not as excessive as anorexia

nervosa. Their BMI is usually within the normal range. If

abnormal then anorexia with bulimic features is the likely

diagnosis.

28-Medulloblastoma:

True / False

Can metastasise outside the CNS. Correct

Can metastasise down the neuroaxis. Correct

Are common in Gorlin's Syndrome. Correct

Can be successfully treated with chemotherapy. Correct

Can respond to radiotherapy. Correct

Medulloblastoma accounts for 20% of brain tumours. It nearly always arises in the midline of the posterior fossa. It presents with ataxia plus raised intracranial pressure. The tumour may seed throughout the CNS,

and via the CSF, and up to 20% have spinal metastases at diagnosis. Treatment is with total CNS radiation after maximal surgical resection, and has a 5 year survival of 50%. Chemotherapy may be beneficial in completely resected cases and those with intraspinal metastases.

Gorlin Syndrome (nevoid basal cell carcinoma syndrome) is AD, with a defect on chromosome 9. It includes a wide spectrum of defects involving skin, eyes, CNS, endocrine system and bones.

Skin: early onset basal cell carcinoma.

Eyes: cataract, glaucoma, coloboma, strabismus,

blindness.

CNS: falx calcification, fits, mental retardation,

partial agenesis of the corpus callosum,

hydrocephalus, nerve deafness,

medulloblastoma.

Endocrine: hypogonadism, with absent or

undescended testes.

Bones: anomalous rib development, spina bifida,

kyphoscoliosis.

29-Theme:Mood disorders

AAdjustment disorder with prolonged depressive reaction

BAdjustment disorder with brief depressive reaction

CBipolar affective disorder

DDepressive conduct disorder

EPersistent depression with cyclothymia

FPersistent depression with dysthymia

GPost-schizophenic depression

HRecurrent depression with psychotic symptoms

IRecurrent depression with somatic symptoms

For each scenario choose the most likely diagnosis.

A 12-year-old girl presents with irritability, loss of interest in her hobbies, poor concentration at school and weight gain of 10 kg over the past two and a half years.

Incorrect - The correct answer is Persistent depression with dysthymia

This girl is depressed for no identifiable reason. There are no "highs", so she has persistent depression with dysthymia.

A 13-year-old boy presents with feelings of worthlessness and decreased school performance. His father committed suicide six months previously.

Correct

This boy is depressed following bereavement, so has an adjustment disorder with prolonged depression.

A 15-year-old girl presents following an overdose. She feels that her teachers are picking on her all the time, and she hears their voices criticising her for poor school performance.

Incorrect - The correct answer is Post-schizophenic depression

This girl has primary schizophrenic symptoms and lowered mood.

Depression is a mood disorder, which ranges in severity. Major depression may be biologic or psychotic. Chronic depression lasts more than one year.

Both genetic (positive family history) and environmental factors may play a part.

In 50% of cases other conditions co-exist, e.g.

conduct disorder

anxiety

ADHD

school refusal.

30-Theme:Large anterior fontanelles

Recurrent depression w ith somatic symptoms

Adjustment disorder w ith prolonged depressive reaction

Depressive conduct disorder

AAchondroplasia

BApert's syndrome

CAthyrotic hypothyroidism

DHallermann-Streiff syndrome

EHypophosphatasia

FPyknodysostosis

GRubella syndrome

HRussell-Silver syndrome

ITrisomy 13

JVitamin D dependent rickets

Which of the listed conditions best fits the features below?

Cleft palate and hypotelorism.

Correct

Patau syndrome (trisomy 13) is associated with midline defects including hypotelorism, cleft palate, microphthalmia and cyclopia in some cases.

Acrocephaly and syndactyly.

Correct

Apert's syndrome is one of the craniosynostoses (premature fusion of the cranial sutures). It is characterised by syndactyly of fingers and toes.

A fatal metabolic condition of infancy associated with bony abnormalities and low serum alkaline phosphatase.

Incorrect - The correct answer is Hypophosphatasia

Trisomy 13

Apert's syndrome

Hallermann-Streiff syndrome

Hypophosphatasia is a genetic abnormality of alkaline phosphatase, which leads to a spectrum of bony disorders, resulting in a fatal prognosis.

31-Theme:Treatment of Diarrhoeal illness

AMetronidazole

BGluten free diet

CNo action

DSteroids

ECow's milk free diet

FPancreatic enzyme

supplements

GVitamin D

HHigh fibre diet

IBreast milk allergy

JPraziquantel

Select one option from the list above that is most suitable for the following patients:

A 6 month old baby has diarrhoea and failure to thrive, which mother feels has been brought on by the introduction of weaning. On examination he appears wasted, with loose buttock folds.

Correct

Likely coeliac disease, which can be confirmed by coeliac antibodies and biopsy, and respond to gluten-free diet.

A 13-year-old Irish girl complains of diarrhoea. She is Iron deficient and denies any history of GI upset after eating rice or potatoes. She has high anti-reticulin antibodies

Gluten free diet

High f ibre diet

Incorrect - The correct answer is Gluten free diet

refers to Coeliac disease where a gluten free diet is appropriate. High reticulin or more specifically now anti-TTG antibodies are expected. The diagnosis is confirmed by jejunal biopsy.

A 10-year-old boy presents with faecal urgency and bloody diarrhoea. He is also under the care of ophthalmologists for a chronic iritis.

Correct

relates to inflammatory bowel disease, Crohn's disease and ulcerative colitis respectively. In Crohn's disease the colonoscopy will reveal cobbled stone mucosal appearances with fistulae where as in ulcerative colitis crypt abscesses are present.

32-Theme:WEAKNESS IN THE LOWER LIMBS

AGuillain-Barre syndrome

BTransverse Myelitis

CMultiple sclerosis

DChronic fatigue syndrome

ESpinal tumour

FDermatomyositis

GCongenital myopathy

HDuchenne muscular dystrophy

IFascioscapulohumeral

dystrophy

JSpinal abscessFor these children with lower limb weakness select the most likely diagnosis

A 4-year-old boy is brought to clinic by his mother who feels he has weak legs and is finding climbing the stairs difficult. He walked independently at 20 months and has received speech therapy for a mild speech delay. On examination his lower limb reflexes are normal, his muscles are well developed distally although weak proximally.

Steroids

Duchenne muscular dystrophy

Correct

DMD occurs in boys and presents with delayed walking i.e.> 18months. Speech delay, cardiomyopathy, scoliosis and calf pseudohypertrophy are also features.

A 12-year-old girl presents with a 5 day history of progressive weakness in her legs and is now unable to walk. She has been passing urine frequently and with difficulty. On examination there is power with gravity eliminated in her legs, very brisk ankle and knee jerks and upgoing plantar responses. Her bladder is palpable up to the umbilicus. Sensation is reduced to touch below T5, vibration and position sense are preserved 3 weeks previously she had a presumed viral illness. MRI brain is normal but shows swelling and increased signal over the spinal cord T5-7 on T1- weighted images. Lumbar puncture shows 33 lymphocytes and monocytes per microlitre and protein 570 mg/L in the CSF.

Incorrect - The correct answer is Transverse Myelitis

The features are suggestive of a lower motor neurone lesion which could also be caused by a spinal tumour / abscess however the MRI would demonstrate these latter pathologies. The CSF lymphocytosis and increased protein may be seen in transverse myelitis. Transverse myelitis has unknown aetiology but has been postulated to have a viral or mycoplasma origin.

A 14-year-old girl has been off school for 4 months with headaches, tiredness and weakness of her legs. In the initial weeks of her illness she had a low-grade fever, sore throat and cervical lymphadenopathy. A blood count showed atypical lymphocytes and liver function tests show a raised AST. These were re-checked 1 month later when they had normalised and thyroid function, urine culture urea & electrolytes were also normal. It is difficult to get her full co-operation for examination but there are no objective signs of weakness and reflexes are all present, symmetrical with downgoing plantar responses.

Correct

The previous viral illness and subsequent lethargy with no consistent abnormal investigations suggest chronic fatigue syndrome.

33-The following are notifiable diseases in England and Wales

True / False

Acute encephalitis Correct

Dysentery Correct

Pulmonary tuberculosis Correct

Chickenpox Correct

Spinal abscess

Chronic fatigue syndrome

Kawasaki Disease Correct

Notifiable infections include:

Bacterial: anthrax, diphtheria, leptosporosis,

pertussis, plague, Brucellosis, tetanus, typhus,

cholera, dysentery, food poisoning, paratyphoid

fever, typhoid, leprosy, tuberculosis, meningitis,

meningococcal infection, ophthalmia neonatorum,

erysipelas, scarlet fever.

Viral: acute encephalitis, AIDS, hepatitis B,

measles, mumps,rubella, poliomyelitis, rabies,

varicella (encephalitis- chickenpox isn't) , yellow

fever.

Protozoal: malaria.

Chicken Pox is notifiable in Scotland.

34-A 3-year-old girl presents with a 3 day history of bloody diarrhoea, followed by pallor, and reduced output of smoky coloured urine. Full term normal delivery with no neonatal complications. Immunisations up to date. There is no FH/SH of note.

On examination she is apyrexial, Respiratory rate is 15/min and pulse is 95/min. She appears pale and has a few petechiae over the abdomen. Blood pressure is 110/90 mmHg.



Benign familial haematuria

Haemolytic uraemic syndrome Correct

Haemorrhagic cystitis

Post-streptococcal glomerulonephritis

Urinary tract infection

The history of bloody diarrhoea followed by reduced output of blood-stained urine and petechiae strongly suggest Haemolytic Uraemic Syndrome, now the commonest cause of acquired renal failure in childhood. This is the triad of intravascular thrombosis, thrombocytopaenia and acute renal failure. 85% are

associated with (bloody) diarrhoea, with Escherichia coli 0157:H7, and Shigella being the commonest culprits.

35-Theme:Infections

AMeasles

BRubella

CChicken pox

DHerpes

simplex

EMumps

FGlandular

fever

GPertussis

HPolio myelitis

IHepatitis A

For each description below choose the single most likely infection from the list of options.

Caused by a gram negative pleomorphic bacillus.

Correct

Whooping cough is not uncommon in infancy. It typically presents with apnoeic episodes or cyanotic episodes during infancy. In the older child upper respiratory tract infections and a paroxysmal cough with a whoop is characteristic.

Is caused by a paramyxovirus which can cause orchitis.

Correct

Mumps and measles are caused by a paramyxoviruses, but only mumps causes orchitis.

Pertussis

Mumps

This infection is most often associated with post-viral fatigue.

Correct

Glandular fever virus infects the B lymphocytes which results in an immuno-deficiency which is usually self limiting.

36-A 14-year-old girl presents with a history of cough and breathlessness on exercise. She has seasonal rhinitis, and admits to have started smoking. Clinical examination is unremarkable.



Gastroesophageal reflux

Allergic rhinitis

Sinusitis

Asthma Correct

Croup

A typical history of asthma in later childhood, with exercise-induced symptoms and a general deterioration on commencement of smoking. Unfortunately this is all too common these days.

37-The following are recognised causes of post-neonatal hypoglycaemia:

True / False

Tricyclic overdose Correct

Urea cycle defects Correct

Congenital adrenal hyperplasia Incorrect answer selected

Medium chain Acyl coenzyme-A dehydrogenase deficiency Correct

Intravenous Salbutamol Correct

The major causes are:

METABOLIC:

Glandular fever

a) Ketotic hypoglycaemia.

b) Liver disease: Reye's Syndrome, acute liver

failure.

c) Inborn errors of metabolism (glycogen storage

disease, galactosaemia, MCAD deficiency, organic

acidaemia, tyrosinaemia, hereditary fructose

intolerance).

d) Poisoning: alcohol, aspirin.

HORMONAL:

a) Growth hormone.

b) ACTH: panhypopituitarism.

c) Cortisol: Addison's Disease, congenital adrenal

hyperplasia.

d) Hyperinsulinsim: Nesidioblastosis, Beckwith's,

insulinomas, exogenous insulin.

38-In Henoch-Schönlein purpura:

True / False

The rash is usually on buttocks and extensor surfaces Correct

The platelet count is decreased Correct

Some patients develop minimal change nephrotic syndrome Incorrect

answer selected

Abdominal pain is common Correct

The purpuric spots do not blanch on pressure Correct

The rash is on the back and thighs. It is a non thrombocytopenic purpura. The resulting glomerulonephritis is membranoproliferative rather than minimal change nephropathy.

Abdominal pain and bloody stools may occur.

The purpuric spots are vasculitic and do not blanch on pressure.

Abdominal pain is one of the cardinal symptoms of HSP. According to a study quoted in emedicine: "Abdominal pain was more common in children than adults (70.2% vs 28.9%)" Henoch-Schönlein Purpura at eMedicine

39-A 7-year-old girl presents with right ear pain and fever, worsening over the past few days.

Symptoms began seven days ago with severe ear pain and fever, which was treated with paracetamol. The following morning the pain resolved and a purulent discharge mixed with blood was noted on her pillow. Four days later the pain is throbbing and her ear is tender.

She was born at term weighing 3.68kg and there were no neonatal problems. She is fully immunised, and there is no FH/SH of note.

On examination she has a fever to 39.7C, and her right ear is displaced downwards and forwards. She is extremely tender behind the right ear, and has a purulent discharge from the ear canal. Her pulse is 100/min and respiratory rate is 15/min.



Cholesteatoma

Mastoiditis Correct

Otitis media, acute

Otitis media, recurrent

Otitis media with effusion

The history suggests acute otitis media with perforation, followed by acute mastoiditis (acute mastoid osteitis).

This can be confirmed by CT scan of the mastoid.

Pneumococcus and H. influenzae are the commonest cause.

Most resolve with antibiotics, but some require surgical drainage

40-Marasmus:

True / False

is commoner in twins Correct

is due to protein deficiency Correct

may be associated with severe chronic bowel disease Correct

the risk of superadded infection is high during recovery Incorrect

answer selected

the recovery of older children is much greater than younger Correct

Starvation, can coexist with kwashiokor. The risk of infection is high at any time - in fact if the child has no clinical sign of infection, the WHO recommends 5 days of oral cotrimoxazole therapy. Read more

41-Theme:Apgar score

A0

B1

C2

D3

E4

F5

G6

H7

I8

J9

K10

Select the most appropriate Apgar score for the following babies.

A baby is born with a pink appearance all over, a respiratory rate of 30/min, a pulse of 125/min actively moving his limbs and is crying

Correct

This is a full house:

normal appearance - pink (2)

pulse - heart rate above 100 (2)

grimaces - crying (2)

10

activity - moving all four limbs (2)

respiration - 30/min normal, crying (2).

A baby is born with a blue complexion, a heart rate of 96/min, has some flexion of muscle tone, grimaces when stimulated with suction and has irregular respiration

Incorrect - The correct answer is 4

In this case:

appearance being blue (0)

pulse is less than 100 (1)

grimace when stimulated (1)

activity - flexion (1)

respiration - irregular (1).

A baby is born with peripheral extremities that are blue but is centrally pink, has a heart rate of 106 on the monitor, coughs when stimulated, moves all limbs and has some irregular respiratory effort.

Incorrect - The correct answer is 8

On this occasion:

appearance of blue peripheries (1)

pulse - more than 100 (2)

grimace - coughs when stimulated (2)

activity - moving limbs (2)

respiration - irregular respiratory effort (1).

The Apgar score is a simple test to assess newborn health and was devised by Virginia Apgar in 1952. The baby is evaluated on five simple clinical scores from 0-10.

Appearance

Pulse

Grimace

5

7

Activity

Respiration.

42-A girl aged 5 years attending normal school presents to the outpatient clinic with bilateral enlargement of the breasts. Bone age is 5.8 years and height is on the 90th centile.

There has been no vaginal bleeding:

Which of the following is correct:


The diagnosis is unlikely to be precocious puberty Correct

It is desirable to check her karyotype in making a diagnosis

Lateral skull X-ray should be requested

Menarche will likely take place in 3 years

She will need to be treated with Clomiphene

The diagnosis is unlikely to be precocious puberty as elevated gonadal steroid levels increase height velocity and the rate of skeletal maturation as well causing feminisation and breast development.

The condition is more suggestive of premature thelarche. Karyotypic anomalies are not relevant. If central (LHRH dependent) precocious puberty is suspected then MRI would be of value rather than cranial ultrasound to identify hypothalamic lesions and other CNS lesions.

However pelvic ultrasound showing normal uterine volume is the most sensitive discriminator between premature thelarche and true precocious puberty. Puberty and menarche should take place at the normally expected timing( 11-13y).

LHRH agonists are used in the treatment of precocious puberty of all types and not clomiphene, an estrogen antagonist.

43-Regarding osteosarcomas

True / False

Affects the epiphyses of long bones Correct

Are most commonly seen around the knee and in the proximal humerus Correct

Haematogenous spread can result in pulmonary metastases Correct

Is exclusively a disease of adolescence and early adult life Correct

x Ray shows a 'sunburst' appearance due to soft tissue involvement

Correct

Osteosarcomas affect the metaphyses of long bones. They are most commonly seen around the knee and in the proximal humerus.

They often occur in young adults but are also seen in the elderly in association with Paget's disease.

They usually present as bone pain and a palpable lump. x Ray shows periosteal elevation (Codman's triangle) and a 'sunburst' appearance due to soft tissue involvement.

Early haematogenous spread occurs and the five year survival rate is approximately 50%.

44-Characteristic features of idiopathic diffuse interstitial fibrosis of the lung (HAMMAN-RICH) include:

True / False

Cyanosis on exercise Correct

Inspiratory crackles on auscultation Correct

Hypercapnia Incorrect answer selected

Decreased FEV1/FVC ratio Correct

Decreased gas transfer factor Incorrect answer selected

This is a rare, chronic and often fatal disorder only occasionally seen in infants and children. There is an uncontrolled inflammatory process leading to progressive fibrosis. Clinically, there is progressive pulmonary insufficiency resulting from interstitial fibrosis and alveolar-capillary block. The onset is insidious with dyspnoea on exercise, later at rest. Gradually, anorexia, weight loss, fatigue ability followed by cyanosis, clubbing, cor pulmonae and right sided heart failure occur. Inspiratory crackles may be heard. There is no increase in airway resistance, but vital capacity, compliance and diffusion capacity are decreased. The spirometry shows a restrictive defect, with an increased FEV1:FVC ratio.

45-Diffusion capacity of carbon monoxide:

True / False

Is a specific measure of lung perfusion. Correct

Depends on the thickness of the alveolar wall. Correct

Depends on the surface area available for gas exchange. Correct

Is increased in cigarette smokers. Incorrect answer selected

Is increased in emphysema. Correct

By Fick's law, the volume of gas diffusing across a membrane equals A/T x D x difference in partial pressure. In life it is impossible to measure accurately the area (A) or the thickness (T), and these are subsumed into a single constant, the diffusion capacity for carbon monoxide. DL=volume of transferred carbon dioxide divided by partial pressure difference between the alveoli and the capillary blood. Since the capillary blood normally does not contain carbon dioxide this term disappears. Diffusion will be increased in healthy compared with unhealthy lungs, where the thickness is likely to increase and the surface area available for gas exchange to decrease. VQ imbalances can indirectly interfere with carbon dioxide diffusion capacity by decreasing the available area of lung for gas exchange, but it is not a specific measure of lung perfusion

46-The following are compatible with a diagnosis of Werdnig-Hoffmann Syndrome:

True / False

Fasiculation of the fingers Incorrect answer selected

Brisk tendon reflexes Correct

Pseudohypertrophy of the arm and leg muscles Incorrect answer

selected

Intercostal recession Correct

Positive Gower's sign Correct

Spinal muscular atrophy type 1 (Werdnig-Hoffmann Disease) is an autosomal recessive degenerative disorder of the anterior horn cells, which leads to progressive weakness and wasting of skeletal muscles. It presents in early infancy. There may be diminished fetal movements, and arthrogryposis noted at birth. Typical signs include fasiculation of the tongue, intercostal recession, lack of antigravity power and the hip flexors, and absent deep tendon reflexes. Death is from respiratory failure by 12 months of age. Despite being very floppy, the child is usually very alert.

47-A 3-year-old girl has a fit in association with a temperature of 39°C:

True / False

A lumbar puncture is indicated. Correct

The risk of future epilepsy is 1%. Correct

An EEG is indicated if the fit is tonic clonic. Correct

Fits lasting longer than 5 minutes should be thoroughly investigated.

Correct

The commonest precipitating infection is a Streptococcal throat

infection. Incorrect answer selected

Febrile seizures occur in 3-4% of young children, particularly between 9 months and 5 years. Occasionally, a febrile convulsion may signify a serious underlying acute infectious illness such as bacterial meningitis. Typically, the seizure is generalised tonic clonic and lasts less than 10 minutes. Atypical seizures last longer than 10 minutes, may have focal features, may recur or be associated with a positive family history of epilepsy, occur below 9 months of age, or be associated with delayed development or abnormal neurological examination. The incidence of epilepsy in uncomplicated cases is 1%, increasing to 9% when several risk factors are present. If any doubt exists with regard to the possibility of meningitis, an LP is indicated (if safe). The commonest precipitants are viral infections of the upper respiratory tract, roseola, and acute otitis media.

Copyright © 2002 Dr Colin Melville

48-A 2-year-old boy presents with fever and knee pain for 18 hours. He has previously been well.

He had a full term normal delivery with no neonatal problems. His immunisations are up to date. There is no family or social history of note.

On examination the temperature is 38.9oC, with respiratory rate 24/min and pulse 100/min. He is alert and well perfused. His left knee is swollen, warm, red and exquisitely tender. It is held partly flexed.



Haemophilia A

Juvenile rheumatoid arthritis

Osteomyelitis

Reactive arthritis

Septic arthritis Correct

The short history, fever, location and clinical findings all point to a septic arthritis.

This can be confirmed by blood culture and needle aspiration of the joint.

The common organisms are Staph. aureus and Gram negative Bacilli, with Guillain-Barré syndrome (GBS) in less than 3/12 infants.

Treatment is with intravenous antibiotics, with resolution followed by settling white cell count, erythrocyte sedimentation rate and C reactive protein.

49-A 5-year-old girl presents with vomiting and diarrhoea. This began two days ago. The vomiting is now settling, but the diarrhoea has contained admixed blood and some slime.

She was a healthy term infant, with no previous medical problems, nor adverse FH/SH.

On examination she has a temperature of 38.6C and is quiet. She has a dry mouth and reduced skin turgor. Respiratory rate is 25/min and heart rate 100/min. No rash. Her peripheries are cool and capillary refill time 4 seconds.



Campylobacter gastroenteritis This is the correct answer

Crohn disease

Escherichia coli0157:H7 infection Incorrect answer selected

Salmonella typhi infection

Viral gastroenteritis

This child has acute bloody diarrhoea (dysentery) accompanied by significant dehydration (5-10%).

This is most likely due to a bacterial gastroenteritis. The commonest offending organism is Campylobacter followed by Salmonella and Shigella.

Escherichia coli 0157:H7 causes occasional outbreaks and may be associated with haemolytic uraemic syndrome.

Occasional imported cases of typhoid are seen, and foreign travel is important to enquire about.

In this country undercooked frozen food (barbeques and takeaways) are the commonest culprits.

50-A 18-year-old girl presents with anxiety and palpitations.

Her mother had been treated for an overactive thyroid gland having received radioiodine and was now on thyroxine replacement therapy.

On examination she had a pulse of 104 bpm with a fine tremor and lid lag. There was no goitre palpable.

Investigations revealed:

Serum free T433 pmol/L (10-22)

Plasma thyroid stimulating hormone (TSH)<0.05 (0.4-5)

Serum antithyroid peroxidase (anti TPO)

titre40 U/L (<50)

What is the most likely cause of her symptoms?


Factitious thyrotoxicosis

Familial hyperthyroglobulinaemia

Hashitoxicosis Incorrect answer selected

Graves' disease This is the correct answer

Riedel's thyroiditis

Although the lead-in might make you think that this patient could gain access to thyroxine and so a diagnosis of factitious hyperthyroidism is possible, in practice this is extremely unlikely.

A strong family history of thyrotoxicosis is typical for Graves' disease and the absence of a goitre with the absence of TPO antibodies (found in 80% of Graves' cases) again is compatible with a diagnosis of Graves'.

document12

Documents

deficiency results

optionautism incorrect

correct answer speech

neonatal problems

likely diagnosis

brief generalised seizure

behavioural problems

fhsh of note