软骨毛发发育不全（一种发育不全谱系障碍）患者随访中广泛的颅内钙化——一个偶然发现？
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?
作者信息
Garcia-Tarodo S, Bottani A, Merlini L, Kaelin A, Schwitzgebel V M, Parvex P, Dayer R, Lascombes P, Korff C M
机构信息
Pediatric Neurology, Children's Hospital, Geneva University Hospitals, Geneva, Switzerland.
Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
出版信息
Eur J Paediatr Neurol. 2015 May;19(3):367-71. doi: 10.1016/j.ejpn.2014.12.016. Epub 2015 Jan 3.
BACKGROUND/PURPOSE: Intracranial calcifications have been identified in many neurological disorders. To our knowledge, however, such findings have not been described in cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders (CHH-AD), a group of conditions characterized by a wide spectrum of clinical manifestations.
METHODS/RESULTS: We report a 22-year old female patient, diagnosed with this disorder during her first year of life, and in whom bilateral intracranial calcifications (frontal lobes, basal ganglia, cerebellar dentate nuclei) were discovered by brain MRI at the age of 17 years.
CONCLUSION
The etiology of this finding remains unclear. Some causes of such deposits can be of a reversible nature, thus prompting early recognition although their consequences on clinical outcome remain mostly unknown.
背景/目的：颅内钙化在许多神经系统疾病中都有发现。然而，据我们所知，在软骨毛发发育不全-发育不全性发育异常谱系障碍（CHH-AD）中尚未描述过此类发现，这是一组具有广泛临床表现的疾病。
方法/结果：我们报告一名22岁女性患者，在其1岁时被诊断出患有这种疾病，17岁时通过脑部MRI发现双侧颅内钙化（额叶、基底神经节、小脑齿状核）。
结论
这一发现的病因尚不清楚。此类沉积物的一些原因可能是可逆的，因此尽管其对临床结果的影响大多未知，但仍需早期识别。
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