3,5 years old male infant was presented with irritability, sleeplessness, lack of appetite, profuse sweating, sialoreya, opistotonic posturing. Recently he was prescribed antibiotics because of aspiration pneumonia.. He was the third and youngest child of phenotypically normal parents and had one healthy 2 brothers. He was born at term gestational age with normal weight after an uncomplicated pregnancy. Birth weight was 3.6 kg. height of 50 cm, and a head circumference of 35.5 cm.. Macrocephaly was noted at birth, and his head circumference continued to grow parallel to the 98th centile. He does not seat, crawl, pull to stand, walk, turn around side. Neonatal period was complicated with jaundice ( related to ABO incompatibility, Coombs test was pos, TORCH was neg, G6PD defic abs) in the 2 nd day of postnatal life. Because of high probability of developing kernicterus (unconjugated bilirubin was 520 mmol/l) exchange transfusion was done in the 2 nd week which was followed by phototerapy. In the 8-th month because of fever, cough and intractable vomiting lasting 1 week he was hospitalized, then he was developed seizures on his left side, which was lasted 5 days and stopped as phenobarbital was given. Then he bagan to lost his reached developmental milestones, such as pulling to stand, turn to around and e.c. Thinking of probability of inherited diseases of metabolism the metabolic screening was done...Phenylalanyne, leucine, methionine, citrulline, tirozine, galactose, TSK, 17-OHP, trypsinogen, Hg pattern, biotinidaza, asylcarnitine were normal..Obj exam..dysmorphic facie(high forehead, slight hypertelorism), macrocephaly (head diameter 54,5 cm, >95 percentile), anter fontanelle 1*1cm,tension, crepitation, wheezes over the lungs, COR tones are weak, abdomen palpable, skin and genitalia do not reveal any abnormality..Neur exam.. Cr nerves..dysphagia, disphonia..Primitive reflexes (Moro, ATNR) persists. Opisthotonik posture, dystonia (R≥L), increased tone in extremities, spasticity, DTR s increased, developmental milestones are grossly delayed, sometimes smiles, pronounces some sounds, does not follow objects. He preferres to lie on his abdomen with opisthotonic posturing.. Thoracal X-ray..middle lobe infiltration. ECG, Abdominal US, Fundus exam was norm. CBC..Biochem..Na, K, urea, kreatinin, ALT, AST, glucosa, Hb, WBC, platelets, prothrombin time, thrombin time, fibrinogen and serum ammonia, lactic acid and amino acids were norm. APPT was slightly increased (42 sec). Child s father did not let me to make a photo...What do you think ab this case??? Cerebral palsy or metabolic disarrangement??
Posted on: Tue, 28 Jan 2014 13:57:06 +0000
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