Pediatric neurology
-
Pediatric neurology · Feb 2012
Case ReportsHashimoto encephalopathy causing drug-resistant status epilepticus treated with plasmapheresis.
Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. ⋯ A diagnosis of Hashimoto encephalopathy was considered. Our patient responded to plasmapheresis instead of corticosteroid treatment. This case report is the first, to the best of our knowledge, of plasmapheresis because of Hashimoto encephalopathy in a child.
-
Pediatric neurology · Feb 2012
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.
Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e., glycine receptor α and β subunits, collybistin, gephyrin, and glycine transporter 2. We clinically and genetically characterized two large, unrelated consanguineous families with hyperekplexia. ⋯ This mutation was absent in 400 randomly selected chromosomes in the same population. In conclusion, a novel p. W170S mutation in the extracellular ligand binding domain of glycine receptor α1 subunit was detected in patients with hyperekplexia and mild mental retardation.
-
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.
-
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.
-
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.