CASE REPORTS:
Case No. 1:
A 3 year old male child was referred to the Institute with complaints of mental retardation and convulsions. History revealed that he was normal at birth and was born after full-term pregnancy. The mother had no complaints during her pregnancy. His parents were non-consanguineous. Elder brother of the patient survived for one year and he also had the complaint of convulsions and delayed milestonesHeight was 82.5cm, weight 11.8kgs, head circumference 47.5cm and chest circumference 52.5cm. He has squint on left eye and low set ears. Psychometric analysis showed that the patient is mentally handicapped (moderate) and able to say only mono syllables. He is unable to walk without support. No cardiovascular, respiratory and nervous system abnormalities were observed. Preliminary analysis of urine and serum was done by paper chromatography. The results indicated that proline