Rolando S, Celle M E, Scuderi M, Dani M G, Scarsi R M, Becchetti S
Divisione di Neuropsichiatria Infantile, Istituto G. Gaslini, Università degli Studi di Genova.
Minerva Pediatr. 1990 Apr;42(4):157-60.
The paper reports the case of a girl affected by progressive scoliosis and paralysis of the horizontal gaze, and reviews previously published cases. This is a rare and little known neurological entity transmitted by recessive autosomal inheritance. To all effects, this appears to be the first report of an Italian case. A correct early diagnosis is of considerable importance in view of appropriate genetic counselling.
该论文报告了一名患有进行性脊柱侧弯和水平凝视麻痹的女孩的病例,并回顾了此前发表的病例。这是一种通过常染色体隐性遗传传播的罕见且鲜为人知的神经学病症。实际上,这似乎是首例意大利病例报告。鉴于适当的遗传咨询,早期正确诊断至关重要。