Zellweger-like Syndrome

Abstract

Zellweger-like syndrome (ZLS) is a very rare disorder which has only been described in a few patients. The clinical and biochemical findings are typical of Zellweger syndrome. The children show profound hypotonia and severe epileptic convulsions from birth onwards. There is the characteristic facial dysmorphia with a large fontanelle, frontal bossing, shallow supraorbital ridges, a low nasal bridge and hypertelorism. Hepatomegaly is present. The neurological condition is poor. The children lie virtually motionless and have weak or absent Moro reflex, sucking and swallowing reflexes. Ocular findings include retinopathy and nystagmus. The patients described died within a few months.