Case Reports Zellweger syndrome (cerebro-hepato-renal syndrome)

A syndrome with distinctive clinical features affecting brain, liver and kidneys was described by Bowen et al in 1964 1 and Smith et al. in 1965 2. In 1973 Goldfisher et al 3 has reported that peroxisomes were absent in the liver and kidneys of affected children. More recently lack of dihydroxyacetone phosphate acyletransferase (DHAP-AT) a peroxisomal enzyme with a major role in glycerol ether lipid synthesis has been documented. This condition appears to be quite rare and incidence has been estimated as 1 in 100000 live births 4. Case Report A baby boy was delivered vaginally at 38 weeks of gestation at Base Hospital, Negombo. It was a breech delivery and the Apgar score was 8 at 1 minute. Antenatal period had been uneventful. Baby was admitted to Teaching Hospital Ragama on the 3rd day with a history of poor sucking and lethargy. The parents are first cousins. Mother was 26 years old and father was 33 years old. They have been married for 8 years. This was the fourth pregnancy. C l is a normal boy of 6 years. C 2 a girl, died on the 16th day and C 3 a boy, died at 3 months of age. Both were vaginal deliveries and C 3 was a breech delivery. They also had been lethargic and had feeding difficulties since birth. C 3 had been diagnosed to have a congenital heart disease (? septal defect). Both had recurrent seizures. Birth weight of the baby was 2.3kg, length was 49cm and the head circumference was 31cm. He was lethargic and markedly hypotonic on admission. He was afebrile, had large anterior and posterior fontaneIles and a widely separated sagittal suture. Baby had a high forehead, an absent orbital ridge, low set ears and mild micrognathia (Figure 1). He also had a comparatively long body (49cm), short fingers and a single palmar crease on the right hand