Pandey Amita, Phadke Shubha R, Gupta Neerja, Phadke R V
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Indian J Pediatr. 2004 Mar;71(3):203-9. doi: 10.1007/BF02724269.
To determine the diagnostic yield of neuroimaging in a cohort of children with mental retardation of unknown origin.
Neuroimaging was performed in a total of 47 patients with developmental delay/mental retardation, where no etiologic diagnosis could be made following clinical examination and preliminary investigations.
Thirty (63.82%) children had abnormal neuroimaging findings of which 19 (42.42%) were specific abnormalities useful in arriving at etiological diagnosis. Positive outcome of neuroimaging increased with the severity of mental retardation and in presence of microcephaly and neurologic deficits other than mental retardation.
Neuroimaging should be the standard clinical practice for a child with global developmental delay where no cause is apparent after examination and relevant investigations.
确定神经影像学检查对一组病因不明的智力发育迟缓儿童的诊断价值。
对47例发育迟缓/智力发育迟缓患者进行了神经影像学检查，这些患者在临床检查和初步检查后仍无法做出病因诊断。
30例（63.82%）儿童有异常神经影像学表现，其中19例（42.42%）为有助于病因诊断的特异性异常表现。神经影像学检查的阳性结果随着智力发育迟缓的严重程度以及小头畸形和智力发育迟缓以外的神经功能缺损的出现而增加。
对于全面发育迟缓且在检查和相关检查后仍无明显病因的儿童，神经影像学检查应成为标准的临床操作。
