Monday, January 27, 2014


These infants all have the same syndrome. Note the high forehead, epicanthal folds, and hypopolasia of supraorbital ridges and midface. This autosomal recessive disorder is noted early in infancy. Patients have hepatomegaly, cirrhosis, and biliary dysgenesis. They also have calcific stipping of the patellae, hips, and other epiphyses. Some have glomerulocystic kidney disease, cataracts, and pigmentary retinopathy. They all have profound hypotonia and weakness with absent reflexes, severe hearing and vision impairment, and neonatal seizures. Developmental delay is profound. Life expectancy is less than six months.

Challenge: What's the unfortunate diagnosis?

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Craig Chen said...


This is Zellweger syndrome, also known as cerebrohepatorenal syndrome, a peroxisome biosynthesis disorder characterized by craniofacial dysmorphism and profound neurologic abnormalities.

Source: UpToDate.

Alex said...

stippled epiphysis ddx: WHACK (warfarin, hans zellweger, alcohol syndrome, chondrodysplasia punctata, vit K def). zellweger would account for the facial stuff though.