Poretti-Boltshauser syndrome

Case contributed by Marco Luciano Charry

Presentation

Patient with long standing history of migraine type headache with aura manifested as photophobia, vertigo and hemiplegia attributed to a hemiplegic migraine until MRI was ordered.

Patient Data

Age: 50 years
Gender: Male
MRI

Brain

MRI shows diffuse abnormal cerebellar foliation with multiple cortical-subcortical cysts and thin splayed SCP (molar tooth-like sign).  Also, elongated, and squarelike fourth ventricle.

CT

Brain

Although the cerebellum is clearly abnormal the findings are much harder to appreciate on CT. 

Case Discussion

Poretti-Boltshauser syndrome is an autosomal recessive clinical-radiological pathology, given by the mutation in the LAMA-1 gene, which presents with multiple symptoms and with varying severity of them.
The most frequent signs and symptoms are myopia, retinal dystrophy, alteration in eye movements, occasionally late motor development, and variable alterations in cognitive function.
Poretti-Bolshauser syndrome is characterized by abnormal cerebellar foliation and the presence of cerebellar cortico-subcortical cysts of different sizes, as well as atrophy of the superior cerebellar peduncles (molar tooth-like sign), and enlargement and squarelike fourth ventricle.

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Case information

rID: 74206
Published: 16th Feb 2020
Last edited: 2nd Aug 2021
Inclusion in quiz mode: Excluded

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