Pediatric neurology
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Limb-girdle muscular dystrophies comprise a rare heterogeneous group of genetic muscular dystrophies, involving 15 autosomal recessive subtypes and seven autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy. ⋯ Muscle biopsies are useful for histopathologic and immunolabeling studies, and DNA analysis is the gold standard to establish the specific form of muscular dystrophy. A definitive diagnosis among various subtypes is challenging, and the data presented here provide neuromuscular clinicians with additional information to help attain that goal.
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Pediatric neurology · Jan 2012
Case ReportsHenoch-Schönlein purpura with posterior reversible encephalopathy syndrome.
We describe atypical Henoch-Schönlein purpura with posterior reversible encephalopathy syndrome in a normotensive 11-year-old girl. Her Henoch-Schönlein purpura was atypical because she initially presented with abdominal pain and vomiting and neurologic complications, rather than with the classic rash of Henoch-Schönlein Purpura. ⋯ Her abnormal findings resolved with supportive therapy. We discuss the association of posterior reversible encephalopathy syndrome with Henoch-Schönlein purpura in three previously reported cases.
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Pediatric neurology · Jan 2012
Case ReportsMultiple involvement of the central nervous system in Rosai-Dorfman disease.
Rosai-Dorfman disease is a rare, benign, idiopathic histio-proliferative disorder. Only 5% of cases involve the central nervous system. We describe a 10-year-old girl with pain in her lower limbs and back. ⋯ Disease progression after surgical resection is uncommon. Surgical treatment is not recommended until clear disease progression is detected, or focal disease causes neurologic compression. This disease must be included in the differential diagnosis of lesions that mimic meningioma.