patient of myotonic dystrophy presented with celebellar infarction
TRANSCRIPT
Dr. Md Rashedul Islam FCPS, MRCP(UK)
Registrar, Neurology, BIRDEM
A 52 years old gentleman, diabetic and hypertensive hailing from Fotullah, Narayanganj got admitted into BIRDEM General Hospital under department of Neurology, on 8th February 2014 with the complaints of :
• Vertigo for four days
• Weakness of lower limb for two years.
According to the statement of the patient, he was relatively well four days back. Suddenly he experienced vertigo and unsteadiness. Vertigo was unrelated to change of his position such as bending over or look up. It was associated with nausea and vomiting.
H/O PRESENT ILLNESS…H/O PRESENT ILLNESS…
There was no history of blurring of vision, hearing impairment, tinnitus, aural fullness or aural discharge. On detailed query, he complained that he had been suffering from slowly progressive weakness of the both lower limb for last 2 years, which was more pronounced distally.
H/O PRESENT ILLNESS:
Gradually his movement had become clumsy and he was also experiencing weakness in the upper limbs for last 1 year. On further query, patient told that he had difficulty in gripping & releasing any object.
H/O PRESENT ILLNESS
H/O PAST ILLNESS:H/O PAST ILLNESS: Nothing contributoryNothing contributory
SOCIOECONOMIC HISTORY: He belongs to a middle class family
PERSONAL HISTORY:
He is non alcoholic, non smoker.
FAMILY HISTORY He had 2 brothers and 4 sisters. Among
them one brother died of heart disease 2 years back at the age of 50 years.
TREATMENT HISTORY:
Metformin
Amlodipin
GENERAL EXAMINATION:Appearance:
Expressionless face
Frontal baldness present
Bilateral partial ptosis
Built: average
Decubitus: on choice
Anaemia
Jaundice
CyanosisAbsent
GENERAL EXAMINATION:
Oedema
Dehydration
Clubbing Absent
Koilonychia
Leukonychia
Neck vein: not engorged
Thyroid: not enlarged
Lymphnode: not palpable
GENERAL EXAMINATION:
Skin pigmentation & body hair distribution: normal
Others: No thickened nerve
Pulse: 86 b/min
BP: 130/80 mmHg
Temp:98 F
RR: 16 breaths/min
Higher psychic function : Normal Speech: Hypophonic nasonated voice Cranial nerves : All cranial nerves
including both fundi were intact. GCS: 15/15
NERVOUS SYSTEM EXAMINATION
Muscle Rt. UL Lt. UL Rt. LL Lt. LL
Bulk reduced
reduced reduced reduced
Tone reduced reduced reduced reduced
MOTOR FUNCTION: MOTOR FUNCTION:
NERVOUS SYSTEM EXAMINATION
After gripping action myotonia was After gripping action myotonia was observed in both handsobserved in both hands
Percussion myotonia was presentPercussion myotonia was present
MOTOR FUNCTION: MOTOR FUNCTION:
Reflex B T S K A Abd Plantar
Right ↓ ↓ ↓ ↓ ↓ N Flexor
Left ↓ ↓ ↓ ↓ ↓ N Flexor
Sensory system:
Pain Temp Touch Vibration
Position sense
Right upper limb
N N N N N
Right lower limb
N N N N N
Left upper limb N N N N N
Left lower limb N N N N N
• Sign of Meningeal irritation - Absent
• Cerebellar sign :
Dysdiadochokinesia
Past Pointing On right side
Nystagmus
Intention tremor
Heel shin test: not co-ordinated
• Gait – Broad based ataxic gait
CARDIOVASCULAR SYSTEM EXAMINATION:
• Inspection: normal
• Palpation: Apex beat: on left 5th intercostal space medial to the mid clavicular line.
• Left parasternal heave: absent
• P2: not palpable
• auscultation: S1 & S2 is audible on all four auscultatory area.
Murmur: absent
ALIMENTARY SYSTEM:
• There was no significant abnormalities including gynaecomastia & testicular atrophy
SYSTEMIC EXAMINATIONS
Respiratory system:
no abnormality detected
Genitourinary system:
A 52 years old gentleman, diabetic, hypertensive got admitted with the complaints of vertigo and lower limb weakness. Vertigo was associated with nausea and vomiting without any blurring of vision, hearing impairment, aural discharge.
SALIENT FEATURE
SALIENT FEATURE
Patient had slowly progressive distal limb weakness over last 2 years, without any H/O pain, tingling, numbness of the limb or alteration of bowel and bladder function. Patient had expressionless face with frontal baldness & bilateral partial ptosis.
SALIENT FEATURE
He had hypophonic nasonated speech, reduced Muscle bulk more marked in distal limb and hypotonia. Power was 4/5. Deep tendon reflexes were reduced in all four limbs. Percussion myotonia and grip myotonia was present. Cerebellar sign on right side and ataxic gait was present. Vital signs and all other systemic examination revealed normal findings.
PROVISIONAL DIAGNOSISPROVISIONAL DIAGNOSIS
• Acute Stroke
• Myotonic Dystrophy
• Diabetes Mellitus Type 2
• Hypertension
DIFFERENTIAL DIAGNOSIS
• Paramyotonia
• Intracranial Space Occupying Lesion in Posterior Fossa
INVESTIGATIONS
CBC: Hb % - 13.2
WBC -7000 cu/mm
Neu-65 %
Lymph- 17.8 %
Mono -5.9 %
Eosino- 1.1%
Platelet- 195000
Lipid profile:
TG: 136 mg/dl
T. Chol : 122 mg/dl
LDL: 55 mg/dl
HDL: 40 mg/dl
ALT: 28 IU/LALT: 28 IU/LAST: 32 IU/LAST: 32 IU/L
CPK- 170 U/LCPK- 170 U/LTSH-1.5MU/LTSH-1.5MU/LS. TEST0STERONE-S. TEST0STERONE-15NMOL/L15NMOL/L
Liver Function test:Liver Function test:
SERUM ELECTROLYTES Na: 141 mmol/l K: 4.8 mmol/l
Cl: 108 mmol/l
HCO3: 23 mmol/l
Ca- 8.9 mmol/l
Mg- 0.8 mmol/l
Phosphate-2.8
RENAL FUNCTION TESTRENAL FUNCTION TEST
S. Urea: 21 mg/dl S. Creatinine:0.9mg/dl
HbA1C- 6.9%HbA1C- 6.9% FBS-6.1FBS-6.1 2ABF-7.32ABF-7.3 2AL-7.82AL-7.8 2AD-7.92AD-7.9
Sugar - Nil
Albumin – Nil
Ketone- Nil
Epi. cell: A few /HPF
Pus cell: 1-2 /HPF
RBC: Nil
URINE R/M/E
CHEST X-RAY
ECG
•Antero-inferior ischemia•Ectopic premature ventricular complex•RBBB
MRI OF BRAIN
MRI OF BRAIN
MRI OF BRAIN
MRI OF BRAIN
EMG
EMG
EMG
ECHOCARDIOGRAPHY :
• No RWMA (EF- 60%)
• Good LV systolic function
DOPPLER STUDY OF NECK VESSELS
• Normal finding
FINAL DIAGNOSIS:
Acute Stroke (Cerebellar)
Myotonic dystrophyMyotonic dystrophy
Diabetes mellitusDiabetes mellitus
HypertensionHypertension
Ischaemic Heart DiseaseIschaemic Heart Disease
TREATMENT:
• Lifestyle modification & Diabetic Diet
• Aspirin
• Atorvastatin
• Ramipril
• Metoprolol
• Phenytoin
TREATMENT
Patient was counseled about,
•Course and prognosis of the disease
•Genetic counseling
FOLLOW UP
• Patient was advised for follow up in Neurology OPD for clinical evaluation.
• He was advised for 24 Hours Holter monitoring & possible Electrophysiological Study.
ACKNOWLEDGEMENT :
• Department of Cardiology
• Department of Physical Medicine
• Department of Endocrinology
MYOTONIC DYSTROPHY
(REVIEW)
• Also called Dystrophia Myotonica (DM)
• Two autosomal dominant forms have
been identified: DM1 and DM2.
• Unlike other muscular dystrophies
because it is a multi-system disorder that
presents in a large variety of ways
GENETICS• Non coding triplet repeat expansion disease
•Location- On chromosome 19q, sequence(CTG) in the DMPK gene
CLINICAL PRESENTATION
DIAGNOSIS:
• Mainly clinical diagnosis
• Supported by-
Electromyography
Muscle biopsy
• Genetic study
• Others:
ECG
CPK
WHAT ARE THE EMG FINDINGS?
• High frequency activity that varies repeatedly to cause a characteristic sound on loud speaker (waxing and waning of motor unit action potential called Dive Bomber Effect)
TREATMENT:
• There is no specific treatment for myotonic dystrophy.
• Following are useful for alleviating myotonia.
Mexilletine
Procainamide
Phenytoin
GENETIC COUNSELLING IN MYOTONIC DYSTROPHY
• The smallest expansions of 50 to 60 repeats are found in older , unaffected, or mildly affected individuals, in topmost generations of the family• repeat size rises in the mutation next generation.
MYOTONIC DYSTROPHY & VASCULAR RISKS:
• It is well known that myotonic dystrophy is associated with the white matter lesion in the brain. There are few case reports of myotonic dystrophy patients presented with ischemic stroke
Reference: http://www.ncbi.nih.gov/pubmed/23803495
They are at high risk for arrhythmia and death. A severe abnormality on ECG and a
clinical diagnosis of atrial tachyarrhythmia were associated with a 3.5 fold and five fold
increase respectively in the risk of sudden death.
Reference: http//www.medscape.com/viewarticle/79012
PROGNOSIS:
• There is no definite prognostic marker
• Variable penetrance from person to person
• Life expectancy may be reduced due to
pulmonary, cardiac co-morbidity &
anaesthetic hazards.