Shakiba Marjan, Nezhad Bieglari Habibe, Alaee Mohammad Reza
Assistant Professor of Pediatric Endocrinology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Pediatrician.
Iran J Child Neurol. 2012 Fall;6(4):51-4.
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs.
已经认识到几种伴有手指异常和中枢神经系统受累的综合征，如眼齿指发育不良（ODDD）、莫尔综合征和朱伯特综合征。我们报告了一名因怀疑代谢紊乱的神经学体征而转诊至我们这里的患者。该病例为一名22岁女性，其问题始于4年前，出现记忆力减退、共济失调、步态异常和复视，且病情进展缓慢。她咨询了许多神经科医生，并因怀疑血管炎而接受治疗，但未发现有反应。她身材严重矮小，第一、二、三指中节和远节指骨发育不全，手指弯曲，脚趾异常，牙釉质异常且牙齿缺失。她没有ODDD的典型面容和眼科异常。我们的患者可能是ODDD的一种变异型或一种伴有躯体和神经体征的新综合征。
