Chittem Lakshmanarao, Bhattacharjee Suchanda, Ranganath Prajnya
Department of Neurosurgery, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad, Andhra Pradesh, India.
Department of Medical Genetics, Nizam's Institute of Medical Sciences, Panjagutta, Hyderabad, Andhra Pradesh, India.
J Pediatr Neurosci. 2014 Jan;9(1):33-5. doi: 10.4103/1817-1745.131480.
We are reporting a rare case of I-cell disease presenting with craniosynostosis. An 11-month-old child presented with abnormal head shape, developmental delay and bent bones. We planned for corrective surgery for craniosynostosis, but on genetic analysis I-cell disease was confirmed. After explaining the prognosis of I-cell disease, parents denied surgery. This case report emphasizes the fact that syndromic evaluation of craniosynostosis is very much essential before proceeding for corrective surgery.
我们报告一例罕见的以颅缝早闭为表现的I型细胞病。一名11个月大的儿童出现头部形状异常、发育迟缓及骨骼弯曲。我们计划对颅缝早闭进行矫正手术，但基因分析确诊为I型细胞病。在向家长解释I型细胞病的预后后，家长拒绝了手术。本病例报告强调了在进行矫正手术前对颅缝早闭进行综合征评估非常必要这一事实。
