Neurosurgical aspects of childhood hypophosphatasia
Neurosurgical aspects of childhood hypophosphatasia
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DOI：
10.1007/s00381-008-0708-3
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发表时间：
2009-02-01
影响因子：
1.4
通讯作者：
Girschick, H.
中科院分区：
文献类型：
--
作者：
Collmann, H.;Mornet, E.;Girschick, H.
低磷酸酶症（Hypophosphatasia，HPP; MIM 241510）是一种罕见的隐性遗传性骨代谢异常。它是由编码组织非特异性碱性磷酸酶的基因突变引起的。除了骨矿化、生长障碍和乳牙过早脱落的问题外，婴儿和儿童型HPP与颅缝过早融合有关，我们报告了7例患有婴儿和儿童HPP的儿童，他们表现为颅缝早闭，其中4例由于颅内高压而需要神经外科干预。在其中一个病例中，严重的硬脑膜钙化在手术过程中造成了意想不到的问题。继发性异位的小脑扁桃体被检测到在7例中的5例，并导致hydrochloringomyelias. As颅缝经常涉及在婴儿和儿童HPP，一个多学科的方法，临床护理是必要的，包括长期的神经外科监测。
Hypophosphatasia (HPP; MIM241510) is a rare inborn error of bone metabolism of recessive inheritance. It is caused by mutations in the gene encoding the tissue-nonspecific alkaline phosphatase. Apart from problems in bone mineralization, growth failure, and premature loss of decidual teeth, the infantile and the childhood types of HPP are associated with premature fusion of cranial sutures.We report on seven children affected with infantile and childhood HPP who presented with craniosynostosis.Neurosurgical intervention was necessary in four of them because of intracranial hypertension. In one of these, severe dural calcification posed an unexpected problem during surgery. Secondary ectopia of the cerebellar tonsils were detected in five of the seven patients and caused hydrosyringomyelia in one of them.Since cranial sutures are frequently involved in infantile and childhood HPP, a multidisciplinary approach for the clinical care is necessary, including long-term neurosurgical surveillance.