[Two sibling patients with non-Fukuyama type congenital muscular dystrophy with low serum selenium levels--therapeutic effects of oral selenium administration].
We report a pair of siblings with non-Fukuyama type, merosin-positive congenital muscular dystrophy, born to unrelated parents. Patient 1 was a 16-year-old girl with myopathy, cardiomyopathy, severe mental retardation and epilepsy. Patient 2 was a younger brother of patient 1, a 10-year-old boy with myopathy, severe mental retardation and epilepsy. Their serum selenium levels were decreased to 25 micrograms/l and 55 micrograms/l, respectively (normal 97-147 micrograms/l). Their muscle biopsy findings were similar to those seen in selenium deficient myopathy, showing abnormal mitochondrial distribution and giant mitochondria. After oral administration of selenium for 3 months, their gait disturbance apparently improved, which was confirmed by a gait analysis system. Why their gait improved remain unclear, but a defect in selenium metabolism may play a role in the development of congenital muscular dystrophy and mental retardation.
Kurihara
M
M
Department of Pediatrics, Kanagawa Rehabilitation Center.
Kumagai
K
K
Nakae
Y
Y
Nishino
I
I
Nonaka
I
I
D000284:Administration, Oral; D000293:Adolescent; D002648:Child; D005192:Family Health; D005260:Female; D005684:Gait; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D009136:Muscular Dystrophies / Q000188:drug therapy / Q000235:genetics*; D012643:Selenium / Q000008:administration & dosage* / Q000172:deficiency; D016896:Treatment Outcome
D012643:Selenium