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
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.
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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