lysosomal storage diseases/headache

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3 rezilta yo

Multiple suture synostosis, macrocephaly, and intracranial hypertension in a child with alpha-D-mannosidase deficiency. Case report.

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The authors present an unusual case in which increased intracranial pressure developed because of multiple-suture craniosynostosis and megaloencephaly in a child with a previously undiagnosed lysosomal storage disease, alpha-D-mannosidase deficiency. This 3-year-old boy presented with a history of

Aseptic meningitis and ischaemic stroke in Fabry disease.

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BACKGROUND Fabry disease (OMIM 301 500) is an X-linked lysosomal storage disease. Neurological symptoms in Fabry disease mainly include stroke, acroparesthesia, cranial nerve palsies and autonomic dysfunction. We report on aseptic meningitis in Fabry patients. METHODS Clinical analysis, brain

Fabry disease in patients with migraine with aura.

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Anderson-Fabry disease (AFD) is an X-linked recessive lysosomal disease caused by alpha-galactosidase A (alpha-gal) deficiency, causing progressive glycosphingolipid storage in various organ systems. Headache is a frequent symptom. Cerebral magnetic resonance imaging (MRI) often shows multiple white

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