[Nemaline myopathy--a case report].
An 8-year-old Chinese girl who was noted to have feeding difficulty and poor weight gain since her infancy. Her motor development was delayed with sitting at 1-year-old and walking independently at 2-year-old. She visited our OPD when she was 8. Physically, she was thin and slender. Her height and weight were below the 10th and 3rd percentile. Her face was elongated with high arched palate. Neurologically, she had waddling gate with marked proximal muscle weakness. Her cranial nerves and sensation remained intact. Laboratory tests including blood routine, liver function, renal function, electrolytes, NCV and cardiac echo all were within normal limits. The EMG showed myopathic pattern. A fresh-frozen muscle biopsy stained with the modified Gomori trichrome, processed by histochemistry and electronmicroscopic examination showed typical nemaline rods with predominance of type 1 muscle fibers. She was then diagnosed to have nemaline myopathy.
Chen
C W
CW
Department of Pediatrics, Veterans General Hospital-Taichung.
Chi
C S
CS
Mak
S C
SC
Chu
H Y
HY
Ho
L
L
D002648:Child; D005260:Female; D006801:Humans; D009135:Muscular Diseases / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology