A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit.
A boy had the clinical features of congenital muscular dystrophy with a very mild mental deficit. A muscle biopsy at one year of age showed the typical findings of Fukuyama-type congenital muscular dystrophy, including selective loss of immunoreactions for alpha dystroglycan. Magnetic resonance imaging showed no findings suggestive of migration disorders. The diagnosis of Fukuyama-type congenital muscular dystrophy was confirmed by a molecular assay at 8 years of age, and his haplotype analysis was heterozygous. At 9 years of age, his FIQ on the Wechsler Scale for Children revealed 69, while his IQ on the Tanaka Binnet scale of intelligence was 97. In this report the relationship between mild clinical condition of the studied case and its genotype is discussed.
Department of Pediatrics, Tohoku University School of Medicine, Seiryo-machi 1-1, Sendai 980-8574, Japan. naomi-h@zc4.so-net.ne.jp
Naomi
N
Hino-Fukuyo
Kazuhiro
K
Haginoya
Yukiko K
YK
Hayashi
Ichizo
I
Nishino
Terumi
T
Murakami
Ikuya
I
Nonaka
Kaoru
K
Togashi
Souichiro
S
Tanaka
Masaru
M
Takayanagi
Hiroyuki
H
Yokoyama
Osamu
O
Sakamoto
Toshiaki
T
Abe
Tatsushi
T
Toda
Kazuie
K
Iinuma
D001706:Biopsy; D002648:Child; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D007361:Intelligence Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D015792:Retinal Dysplasia / Q000150:complications / Q000175:diagnosis; D014888:Wechsler Scales
C113587:FKTN protein, human; D008565:Membrane Proteins