A JAPANESE CMD CASE WITH DIFFUSE WHITE MATTER HYPERLUCENCY ON CT AND NORMAL MENTALITY : A 16 YEAR FOLLOW-UP STUDY
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概要
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先天性筋ジストロフィー(CMD)という語は,生下時または生後数ヵ月以内に筋力低下を示し,筋生検ではジストロフィー変化を示す乳児に対し広く用いられてきた.本邦では知能障害を伴う福山型CMDが知られ症例も多い.欧米例は,一般に知能障害は伴わず,筋症状だけを示すと考えられてきた.Nogenが知能は正常であるがCT上白質の瀰漫性の低吸収域を呈するCMD例を報告し,続いて同様の症例が報告され,知能障害は伴わないが中枢神経系に異常のあるCMDの存在が注目を浴びるようになった.1994年にこれらと臨床像が一致する例でメロシンの欠損が認められ,遺伝子座は6q2に存在することが判明した.我々は,生下時より著明な筋力低下を呈し,知能正常,瀰漫性白質低吸収域を呈するCMD例を経験し1981年CMDII型として報告した.さらに,知能正常,生後まもなく筋力低下を示し,筋生検ではジストロフィー変化を呈する同様な例を3例経験した.いずれも生後3ヵ月以前に発症し,定頚が7ヵ月以降と遅れていた.しかしながら,1例を除き坐位保持は1歳未満で獲得しており,いざり這いも可能となった.仮性肥大を認めず,顔筋罹患は軽度に止まり,年長時には顔が細長く見える.1例は, 22歳まで経過観察したが,4歳時および19歳時の頭部CTではいずれも瀰漫性白質低吸収域を認め,両所見に差は認めなかった.最高運動機能はいざり這いで,2歳6ヵ月より11歳まで可能であった.同様の本邦報告例は散見されるが,16年間という長期経過を観察可能であった例は他になく,本邦および欧米例の文献展望を加え,本症の位置付け,分類上の今後の問題点などを検討報告した.A 22y7m old male with non-Fukuyama type congenital muscular dystrophy (non-FCMD), suffering from profound muscle weakness, pes equinovarus since early infancy, with entirely normal mentality despite diffuse white matter hyperlucency on computed tomography without ventricular dilatation, who had been examined at four and 20 years of age with essentially no change during the 16 year interval, is reported. Congenital muscular dystrophy was diagnosed at 8m based on an elevated serum creatine kinase (CK) value and the results of electromyography and muscle biopsy. He never became ambulant but did attain head control, the ability to maintain a sitting posture and sliding on his buttocks. Maximum motor ability was maintained until age 11y. Involvement of the facial musculature and multiple joint contractures developed. He experienced convulsions induced by a fever. Leukocyte lysosomal enzymes were all within normal limits. Cerebrospinal fluid was negative for demyelinating antibodies. Motor nerve conduction velocities examined at 4y2m were within normal limits. Genetic analysis of the FCMD gene locus revealed the patient to have the same haplotype, in terms of the centromere side of mfd220, as one of his healthy elder brothers with normal CK values. In addition, we have reviewed the literature on non-FCMD with similar findings and present two other similar cases in our experience.
- 1996-03-25