DR.S.M.THIRUNUAVUKKARASU MD (GM)., DMRD., D.Diab., F.Echo.,

DEPARTMENT OF MEDICINE

GOVT. THENI MEDICAL COLLGE,THENI.

My sincere thanks to our beloved Dean this collage and My teachers and Dear Juniors who encourage me to present this rare case

For this is 6th chance to stand before you to enlighten the importance of antenatal USG screening of mothers and its squeal if neglected

This is an interesting case history Of a baby born by elective repeat LSCS at a Pvt. Hospital in our Dt.12.7.08 The indication for LSCS – Previous LSCS ANTENATAL CARE – Adequate USG – 4 times at regular intervals (BOTH BY RADIOLOGIST AND NON RADIOLOGIST). LMP- 19.10.07 EDD 26.07.08 G2P1L1-HIV &VDRL-NR

Do-LSCS(with s)-12.07.08 4.40 PM Birth wt. 2.610 Kgms., Term female baby Not cried immediately after birth Resuscitation failed Passed urine and meconium Had poor respiratory effort and suspected to have RDS and Multiple cong. Anomalies.

This baby was referred to our Hospital 4 hours after birth by a Peadiatrician-reached our hospital within 6 hours of birth: Admitted in SNN ward

Thanks to DR.V.SEENIVASAN

(efforts to arrive the probable diagnosis)

HIS OBSERVATION -DORSIFLEXION OF BOTH FEET. SINGLE PALMAR CREASEFLEXION CONTRACTURE OF FINGERSAND RESTRICTED FLEXION OF BOTH WRIST LT. CONGENITAL CATARACTANAL OPENING PATULOUS,CRANIOSYNOSTOSIS

DIAGNOSIS-LATE PRETERM- AGA- RDMULTIPLE CONGENITAL ANAMOLIESLT. CONGENITAL CATARACT-CRANIOSYNOSTOSIS?ORTHROGRYPOSIS CONGENITA(10.30PM -12.07.2008)

INVESTIGATIONS

Hb:10.8 grams.,Dc –P47%E3%L50%Blood grouping- O -+

15.7.08 X Ray chest ?Cardiomegaly?Thymic shadow

15.7.08: Neurosonogram All ventricles are dilated Measures19 mm at the atrium levelPromenent cisterna magna Advised to take CT

16.7.08 CT brain

cerebral atrophywith prominent SA space with ventriculomegaly. Post fossa N MRI advised

18.07.08 :Echo was taken

Ias and Ivs intactLt to Rt shunt with small PDA

19.7.08:ORTHO opinion1 wk old baby With B/L extended kneesWith B/L Calcaneo valgus deformity

With Hypotonia +

DIAGNOSED – ARTHOGRPOSIS MULTIPLEX CONGENITA

Discussion Synonyms and related keywords.Arthrogryposis multiplex congenitaAMCMultiple congenital contracturesMultiple congenital joint contracturesFetal akinesiaDecreased fetal movements

Arthrogryposis multiplex congenitais aHeterogenous group of disordersCharacterized by multiple joint contractures of prenatal onset with deformed, rigid joints, found throughout the body at birth.

Causes Extrinscic causes-oligohydramnios twinning uterine masses

Intrinsic causes - Neurogenic, myogenic, skeletal, connective tissue abnormalities,

Pathophysiology-

The major cause of arthrogryposis is fetal akinesia(decreased fetal Movements),

Maternal disorders: (IU infection, drugs, trauma, maternal illness)

Generalized fetal akinesia:- can also lead to polyhydramnios, pulmonary hypoplasia, micrognathia, occular hypertelorism, short umblical cord

During early embryo genesis Joint development is almost always normal.

motion is essential for the normal development of joints and their contiguous structures: lack of fetal movements causes extra connective tissue to develop around leading to joint fixation and movement limitation and aggravation of the joint contractures, with dislocation of joints

(hip, knee)..

Most cases are Neurogenic in origin, as a result from congenital/acquired defect in the organization or number of anterior horn cells, roots, peripheral nerves or motor end plates

Producing muscular weakness and resultant joint immobility at critical stages of intrauterine development.

Pattern of deformity Type I –VIII.

Myopathic Multiple congenital contractures account for 10% and AR transmision.

Limited intrauterine movement is the common feature to all types of arthrogryposis.

..

NORMAL FETAL MOVEMENTS:3 or more discrete body/limb movementsIn 30 min observation or less( episodes of active continuous movement considered as single movement)

Histologically – muscle mass will be small with fibrosis and fat between muscle fibers.

The periarticular soft tissue structures are fibrotic and create a fibrous ankylosis

Incidence: –1 in 3,000 live births.Race:-No racial predilectionSex:–males are primarily affected in x-linked recessive disorders, otherwise both are equally affected.Age:– is usually detected at birth or in utero by usg.

How to diagnose AMC ?X –RAYCT SCANMRIEMG &NCSSERUM ENZYME TESTSMUSCLE BIOPSY

WHAT ELSE WE NEED?

Clinical examination remains the

best modality for establishing the

diagnosis

Rest of the above said things are helpfulIn assessing the invovlement of the

Skeletal system (hip dislocation,scoliosis)Scoliosis has been reported in 10-30%

History Review hyperextensibility, dislocation of joints, clubfeet in others.

Consanguity: is more common in families with rare recessive diseases.Increased maternal and paternal age increases the possibility.

Pregnancy history:1. Infants born to mothers with myotonic dystrophy, myasthenia gravis, or multiple sclerosis are at risk of having a child with AMC.2. Maternal infections can lead to CNS & PN destruction with secondary congenital contractures.3. Maternal hyperthermia of more than 39* C for an extended period can cause contractures due to abnormal nerve growth or migration.4. Exposure to teratogens.5. Chronic amniotic fluid leakage may cause fetal constraint and contractures6. Uterine abnormalities: bicornuate/septate uterus or fibroid.7. Antenatal bleeding, threatened abortion, attempted or failed termination, abdominal trauma and abnormal fetal lie.

Physical examination-Joint contractures and clinical manifestations may vary from case to case Some of the common characters areInvolved extremities are fusiform or cylindrical in shape with thin subcutaneous tissue and absent skin creasesDeformities are usually symmetrical and increasing severity distally with the hands and feet typically the most deformed.Joint rigidity with Muscles atrophy or muscle groups may be absent

Sensation may be usually normal DTR diminished or absent.

Lab studies- In general lab studies are not extremely useful.

Imaging studies-Photography- to document the extent of deformities and to evaluate the skeletal and joint abnormalities.CT- scan- to evaluate the CNS and the muscle.MRI- to evaluate the muscle mass obscured by contractures

USG- prenatal usg is the only helpful tool- at least to study the decreased fetal movements abnormal fetal lie & Poly/Oligohydramios

Managements-

1. Medical care- no completely successful approach to treatment has been found.2. Early vigorous physical therapy to stretch contractures is very important in improving joint motion and avoiding muscle atrophy.3. Feeding assistance and intubation for pts. with severe trismus.4. Surgical care properly sequenced corrective surgical procedures to maximize function.

Prevention & Recurrence Recurrence risk depends on whether the contractures are extrinsically or intrinsically derived.

Extrinsically derived contractures have a low recurrence risk. Intrinsically derived contractures have risk of recurrence depends on etiology.AMC may he inheritied in the following ways. AD- RR IS 50%--- AR- RR IS 25% (both parents are obligatory carriers.) x-LR- all daughters of affected males are carriers(sons have 50% chance of affection- daughters have 50% chance of being carriers.)

Sporadic/mitochondrial mutations/ multifactorial

Complications –1. Per operative issues- difficulties with airway management, problematic intravenous access, intra operative hyperthermia.

2. Problems in intubations- small jaw, limited tm joint movement, narrow airway.

3. Osseous hypoplasia due to decreased mechanical use in developing bone which are prone to fracture at multiple sites.

Prognosis-1. Neonates require ventilator –poor prognosis (predictors- decreased fetal movements, Polyhydramnios, micrognathia,thin ribs,) delayed developmental milestones 2. Skeletal changes secondary to original deformities may worsen the patients overall condition.

3. Extrinsically derived contractures - carry good prognosis

4. Intrinsically derived contractures – not so

Family(patient) education

The birth of a child with AMC may be a catastrophic event for parents and family.They may experience anger, feelings of guilt, repulsion , disappointment, depression.Family members may have difficulty in understanding or accepting the diagnosis.

Family members may also be informed about additional unrecognized malformations, risk of MR, the risk of recurrence.-Why -

BEFORE TO DO STERILIZATIONTRY TO RULE OUT(keep in mind) MAJOR ANAMOLIES ( chromosomal anamolies imperforate anus ambigous genitalia ext. urethral meatal anamolies)In born errors of metabolism(later)

THANKYOU

DR. SMT ARASU