A Case of Nemaline Myopathy

Childhood onset nemaline myopathy, first described in 1963 by Shy, et al and Conen, et al, is rare congenital myopathy, characterized by nonprogressive or slowly progressive muscle weakness associated with rod-like structures in muscle fibers, often with dysmorphic features. This myopathy was confirmed by muscle biopsy. The light microscopic features noted generally small round fibers that showed variation in size and occasional internal nuclei and characteristic rod bodies that could be demonstrated in the longitudinal sections stained with modified Gomori trichrome stain. Electromicroscopically there were accumulations of numerous irregular electron dense materials scattered between the myofibrils, particularly under the sarcolemma and enlargement and streamimg of the Z disk. We report a case of childhood onset nemaline myopathy in Korea in a 7 year- old boy who had nonprogressive muscle weakness of the limbs with a waddling gait.

A Case of Wernicke's Encephalopathy which Occurred During Chemotherapy in a Child with Acute Myeloblastic Leukemia

Wernicke,s encephalopathy(WE), a neurological disorder caused by thiamine deficiency, is characterized by the triad of ocular symptoms, ataxia, and mental confusion. More than 90% of the cases are observed in chronic alcoholics. Other conditions less frequently associated with WE are anorexia nervosa, prolonged parenteral nutrition, hemodialysis, uremia, hyperemesis gravidarum, gastroplasty for morbid obesity, and acquired immunodeficiency syndrome(AIDS). One of the rare diseases associated with WE is tumors of the lymphoid-hemopoietic systems. We experienced a case of WE in a 15-year-old girl presented with bilateral horizontal nystagmus, bilateral abducens nerve palsy, mental confusion, disorientation, and ataxia after suffering anorexia, persistent vomiting, and watery diarrhea for 30 days following chemotherapy for acute myeloblastic leukemia. The serum thiamine level was 13.4 ng/mL(normal : 18.4-53.1). Brain MR T2-weighted image revealed a high signal intensity lesions bilaterally at the medial thalamus, pons, tectum, mammilary body, lateral wall of third ventricle, and putamen. Bilateral abducens nerve palsy, ataxia, and mental confusion improved dramatically following thiamine 100 mg/day replacement for 4 days. After two monthly follow-up, she was left with a residual fine bilateral horizontal nystagmus. We confirmed this case by clinical symptoms, brain MR findings, low thiamine level, and clinical response following thiamine replacement, and report with a brief review of the literature.