Mathieu J, Bédard F, Prévost C, Langevin P
Clinique des maladies neuro-musculaires, Hôpital de Chicoutimi, PQ, Canada.
Can J Neurol Sci. 1990 May;17(2):103-8.
In 1971, Andermann and Andermann described an autosomal recessive syndrome found within the Charlevoix and the Saguenay populations (Quebec, Canada) characterized by agenesis of the corpus callosum (ACC) associated with motor and sensory neuropathy, mental retardation and dysmorphic features. A study of CT in 64 patients demonstrated a total ACC in 37 cases (57.8%), partial ACC in 6 cases (9.4%) and the presence of the corpus callosum in 21 cases (32.8%). The latter was confirmed by MRI in 3 cases. CT of patients without ACC revealed a high frequency of developmental or degenerative midline anomalies, particularly interhemispheric fissure enlargement and posterior fossa atrophy. The clinical presentation and the natural course of the neuropathy, the intellectual impairment and the behavioural manifestations are identical amongst individuals with or without ACC. Individuals with or without ACC are found within the same family and often within the same sibship. These observations support the hypothesis of a single genetic syndrome in which the constant manifestation is the motor and sensory neuropathy.
1971年，安德曼夫妇描述了在加拿大魁北克省沙勒沃伊和萨格奈人群中发现的一种常染色体隐性综合征，其特征为胼胝体发育不全（ACC），伴有运动和感觉神经病变、智力迟钝及畸形特征。对64例患者的CT研究显示，37例（57.8%）为完全性ACC，6例（9.4%）为部分性ACC，21例（32.8%）存在胼胝体。其中3例经MRI证实。无ACC患者的CT显示发育性或退行性中线异常的发生率较高，尤其是半球间裂增宽和后颅窝萎缩。有或无ACC个体的神经病变、智力障碍及行为表现的临床表现和自然病程相同。有或无ACC个体出现在同一个家庭中，且常出现在同一同胞关系中。这些观察结果支持单一基因综合征的假说，其中持续表现为运动和感觉神经病变。
