Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency

Contains fulltext : 22222.PDF (publisher's version ) (Open Access

[Myelitis transversa caused by neuroschistosomiasis]

Item does not contain fulltextBACKGROUND: Neuroschistosomiasis is a severe complication of an infection with Schistosoma; this infection can lead to myelitis transversa. Acute myelitis transversa is a rare disorder of the spinal cord, which can present with muscular weakness, sensory disturbance and intestinal or bladder dysfunction. CASE DESCRIPTION: A 17-year-old refugee from Eritrea, who had been in the Netherlands for 3 weeks, suffered from back pain and progressive weakness of both legs for one week. Both the clinical presentation and the MRI images were consistent with myelitis transversa. Schistosomamansoni eggs were found in the faeces, and antibodies to Schistosoma eggs and worms were found in both liquor and serum, leading to a diagnosis of neuroschistosomiasis. The patient recovered completely following treatment with praziquantel and prednisone. CONCLUSION: Schistosomiasis is a commonly occurring parasitic disease in sub-Saharan Africa, which can lead to myelitis transversa if it spreads to the spinal cord. Early detection and treatment are necessary to prevent lasting damage. A good geographical case history is essential for this process

Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation

Functional Genomics of Muscle, Nerve and Brain Disorder