Loddenkemper Tobias, Grote Kerstin, Evers Stefan, Oelerich Michael, Stögbauer Florian
Department of Neurology, Westfälische Wilhelms-Universität, Münster, Germany.
J Neurol. 2002 May;249(5):584-95. doi: 10.1007/s004150200068.
Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Neurological complications are thought to be occasional manifestations of the disorder. This report illustrates the neurological manifestations by a pedigree of two ODDD patients with spastic paraparesis, cerebral white matter hyperintensity and basal ganglia hypointensity. A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype. A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition.
眼牙指发育不全（ODDD）（MIM 164200）是一种罕见的常染色体显性遗传性疾病，影响面部、眼睛、四肢和牙列的发育。神经并发症被认为是该疾病的偶发表现。本报告通过一个患有痉挛性截瘫、脑白质高信号和基底节低信号的ODDD患者家系说明了其神经学表现。还对关于ODDD的英文、法文、德文和意大利文文献进行了系统综述，以总结该疾病的神经学表现。先前描述的243例ODDD病例呈现出一系列神经学表现，包括MRI上的痉挛（25例）、皮质下白质病变（9例）和基底节改变（6例）。其他发现包括凝视麻痹和斜视（28例）、膀胱和肠道功能障碍（21例）、视力丧失（20例）和失明（4例）、听力丧失（15例）、共济失调（11例）、眼球震颤（9例）、肌肉无力（5例）和感觉异常（3例）。神经学表现，包括与MRI改变相关的痉挛，是ODDD表型中一个未被充分认识的特征。一份关于ODDD神经学表现的临床指南可能有助于对患有这种疾病的患者进行评估。
