Zellweger syndrome

Case contributed by Hani M. 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
This study is a stack
Axial
T1
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Sagittal
T1
This study is a stack
Axial
T2
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Coronal
T2
This study is a stack
Coronal
FLAIR
This study is a stack
Axial
Gradient Echo
This study is a stack
Axial
DWI
This study is a stack
Axial
T1 IR
This study is a stack
Axial
ADC
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Info

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

x-ray
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Info

Zellweger syndrome.

ultrasound
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Info

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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