Ciofu C, Laky D, Craiu I, Abousaad O
Institute for Care of Mother and Child, Alfred Rusescu, Bucharest, Romania.
Rom J Morphol Embryol. 1993 Jan-Jun;39(1-2):71-3.
The authors present a rare case of a male infant aged 5 1/2 months with muscular contractures, hypotonia and areflexia. Two male siblings died with the same clinical picture. The microscopic findings of several spinal cord specimens are typical for Werding-Hoffman amylotrophia spinalis. The microscopical aspects are suggestive for neurogenic atrophy of muscular fibres with interstitial myositic process. It is proposed to include the present case in X-linked form of infantile spinal muscular atrophy.
作者报告了一例罕见的5个半月大男婴，患有肌肉挛缩、肌张力减退和反射消失。该男婴的两个兄弟也死于相同的临床表现。多个脊髓标本的显微镜检查结果符合韦丁 - 霍夫曼脊髓性肌萎缩症的典型表现。显微镜下所见提示为伴有间质肌炎过程的肌纤维神经性萎缩。建议将本病例纳入X连锁型婴儿脊髓性肌萎缩症。
