Guillén-Navarro E, Wallerstein R, Moran E, Chu M L, Grant A
Human Genetics Program, New York University Medical Center, NY 10016, USA.
Clin Neurol Neurosurg. 1998 Mar;100(1):64-7. doi: 10.1016/s0303-8467(97)00123-6.
A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spasticity and atrophy starting at 4 years of age, atretic ear canals with hearing dysfunction and diffuse patchy cutaneous hypopigmented areas. Clinical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. Sensation, autonomic and cerebellar functions were not disturbed. Neuroimaging studies were normal. Laboratory findings did not support a diagnosis of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmitted presumably in an autosomal recessive pattern.
一名16岁的西班牙裔男孩，其父母为近亲结婚。该男孩有白内障病史，4岁起出现进行性下肢痉挛和萎缩，耳道闭锁伴听力功能障碍，以及弥漫性斑片状皮肤色素减退区。临床检查显示痉挛性截瘫的典型体征，包括肌张力增加、反射亢进、肌肉萎缩和挛缩。感觉、自主神经和小脑功能未受影响。神经影像学检查正常。实验室检查结果不支持代谢紊乱或传染病的诊断。这被认为是一种复杂型遗传性痉挛性截瘫（HSP）的新形式，可能以常染色体隐性模式遗传。
