OBJECTIVE: 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. DESIGN: A prospective follow-up study. Setting. A multidisciplinary neurofibromatosis clinic. PATIENTS: A total of 122 children diagnosed with NF1 according to diagnostic criteria set by the National Institutes of Health. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVE: 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. DESIGN: A prospective follow-up study. Setting. A multidisciplinary neurofibromatosis clinic. PATIENTS: A total of 122 children diagnosed with NF1 according to diagnostic criteria set by the National Institutes of Health. RESULTS: 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. CONCLUSIONS: 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.
Authors: Sripriya Raman; Adda Grimberg; Steven G Waguespack; Bradley S Miller; Charles A Sklar; Lillian R Meacham; Briana C Patterson Journal: J Clin Endocrinol Metab Date: 2015-04-03 Impact factor: 5.958
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Authors: Keun Hee Choi; Seung Joon Chung; Min Jae Kang; Ju Young Yoon; Ji Eun Lee; Young Ah Lee; Choong Ho Shin; Sei Won Yang Journal: Ann Pediatr Endocrinol Metab Date: 2013-12-31
Authors: Karolina Kobus; Daniela Hartl; Claus Eric Ott; Monika Osswald; Angela Huebner; Maja von der Hagen; Denise Emmerich; Jirko Kühnisch; Hans Morreau; Frederik J Hes; Victor F Mautner; Anja Harder; Sigrid Tinschert; Stefan Mundlos; Mateusz Kolanczyk Journal: PLoS One Date: 2015-03-16 Impact factor: 3.240