[Two sibling patients with non-Fukuyama type congenital muscular dystrophy with low serum selenium levels--therapeutic effects of oral selenium administration].

Abstract

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.

• Authors: M Kurihara, K Kumagai, Y Nakae, I Nishino, I Nonaka
• Journal: No to hattatsu = Brain and development (No To Hattatsu) Vol. 32 Issue 4 Pg. 346-51 (Jul 2000) ISSN: 0029-0831 [Print] Japan
• PMID: 10916376 (Publication Type: English Abstract, Journal Article)

Chemical References

• Selenium

Topics

• Administration, Oral
• Adolescent
• Child
• Family Health
• Female
• Gait
• Humans
• Intellectual Disability (etiology)
• Male
• Muscular Dystrophies (drug therapy, genetics)
• Selenium (administration & dosage, deficiency)
• Treatment Outcome