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Zellweger syndrome

Case contributed by Hani Makky Al Salam
Diagnosis probable

Presentation

A neonate with hypotonia, and craniofacial dysmorphism. History of two siblings suspected with Zellweger syndrome had previously passed away.

Patient Data

Age: Neonate
Gender: Male
mri

Polymicrogyria at the perisylvian and perirolandic regions with germinolytic cysts seen at the head of the left caudate nucleus posteriorly.

x-ray

Zellweger syndrome.

ultrasound

Multiple small cysts are seen at the head of the left caudate nucleus.

Case Discussion

A neonate with hypotonia, and craniofacial dysmorphism. History of two siblings suspected with Zellweger syndrome had previously passed away.

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