A one-year-old male child presented with complaints of recurrent cough, hurried respiration and delayed developmental milestones. On physical examination, the child had flat facies, flat occiput, high forehead, upward slanting of palpebral fissures, hypertelorism, epicanthal folds and anteverted nares (Fig.1). He also had hepatosplenomegaly, marked hypotonia with sluggish reflexes and bilateral coarse crepitations. X-ray of chest showed bi-lateral non homogenous opacities, abdominal ultrasound showed grade II nephropathy and CT scan of the head showed frontal lobe atrophy. A diagnosis of Zellweger syndrome was made.

Fig.1 Classic facial dysmorphism of Zellweger syndrome.

Zellweger (cerebro-hepab-renal) syn-drome is transmitted as an autosomal recessive disorder. The typical facial features include macrocephaly, flat occiput, flat face, high forehead with large fontanelles., hyper-telorism, epicanthal folds, upward slanting of palpebral fissures, nystagmus, posteriorly rotated ears with abnormal helices, anteverted nares, protruding tongue, high arched palate, and redundant skin folds of neck. Other features include bell shaped chest, hepatomegaly, hydronephrosis, cryptor-chidism and hypospadiasis in males, clitromegaly in females. Neurological abnormalities often seen in this syndrome are mental retardation, hypotonia, seizures, hyporeflexia or areflexia. They may also have cardiovascular anomalies like VSD and PDA. It has an apparent resemblance to Downs syndrome and is often mistaken for it. Diagnosis is confirmed by evidence of elevated levels of long chain fatty acids and pipecolic acid in the blood.