Lehman R A, Reeves J D, Wilson W B, Wesenberg R L
Ann Neurol. 1977 Nov;2(5):378-84. doi: 10.1002/ana.410020506.
Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved.
本文报告了7例婴儿骨硬化症病例。其中5例可进行详细的临床检查，2例进行回顾性研究，包括尸检切片。对这些患者的神经功能缺损进行了回顾。通过发育迟缓、眼部异常、反射改变以及影像学和尸检结果，提示中枢神经系统实质受累。我们的几位患者以及文献报道的一些患者存在脑萎缩，这可能是许多此类患者出现脑室扩大的原因。虽然可能存在脑积水，但尚不清楚其是否常见，或者是否可在无颅内出血的情况下发生。大头围并非由颅骨增厚或脑积水所致。尽管我们的患者身材矮小，但垂体功能似乎正常。手术减压可能会稳定颅神经功能，尤其是在视神经受累时。
