Cnossen M H, Stam E N, Cooiman L C, Simonsz H J, Stroink H, Oranje A P, Halley D J, de Goede-Bolder A, Niermeijer M F, de Muinck Keizer-Schrama S M
Department of Pediatrics, University Hospital Sophia/Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
Pediatrics. 1997 Oct;100(4):667-70. doi: 10.1542/peds.100.4.667.
To establish the prevalence of endocrinologic disorders in children with neurofibromatosis type 1 (NF1) and the relationship between these disorders and cerebral abnormalities on magnetic resonance imaging.
A prospective follow-up study. Setting. A multidisciplinary neurofibromatosis clinic.
A total of 122 children diagnosed with NF1 according to diagnostic criteria set by the National Institutes of Health.
Central precocious puberty (CPP) was diagnosed in 3 children and growth hormone deficiency (GHD) in 3 children. Optic pathway gliomas were observed in 15 children; in 9 of the 15 cases, the optic chiasm was involved. Of the 3 children with CPP, only 1 showed a chiasma glioma on magnetic resonance imaging. In 1 case with GHD, an optic chiasm glioma was detected on neuroimaging. Two of the 9 children with an optic chiasm glioma presented with CPP or GHD.
It has been suggested that CPP in children with NF1 is found exclusively in the presence of a chiasma glioma. We conclude that chiasma glioma may not be obligatory in children with NF1 and CPP or GHD. Moreover, we report a prevalence of GHD in children with NF1 of 2.5%, which has not been established earlier.
确定1型神经纤维瘤病（NF1）患儿内分泌紊乱的患病率，以及这些紊乱与磁共振成像显示的脑部异常之间的关系。
一项前瞻性随访研究。地点：一个多学科神经纤维瘤病诊所。
根据美国国立卫生研究院制定的诊断标准，共纳入122例诊断为NF1的患儿。
3例患儿诊断为中枢性性早熟（CPP），3例患儿诊断为生长激素缺乏症（GHD）。15例患儿观察到视神经通路胶质瘤；15例中的9例，视交叉受累。3例CPP患儿中，仅1例磁共振成像显示视交叉胶质瘤。1例GHD患儿神经影像学检查发现视交叉胶质瘤。9例视交叉胶质瘤患儿中有2例出现CPP或GHD。
有人提出，NF1患儿的CPP仅在存在视交叉胶质瘤时出现。我们的结论是，视交叉胶质瘤对于NF1合并CPP或GHD的患儿可能并非必需。此外，我们报告NF1患儿中GHD的患病率为2.5%，此前尚未确定。
