Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1.
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.


METHODS
A prospective follow-up study. Setting. A multidisciplinary neurofibromatosis clinic.


METHODS
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.
Cnossen
M H
MH
Department of Pediatrics, University Hospital Sophia/Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
Stam
E N
EN
Cooiman
L C
LC
Simonsz
H J
HJ
Stroink
H
H
Oranje
A P
AP
Halley
D J
DJ
de Goede-Bolder
A
A
Niermeijer
M F
MF
de Muinck Keizer-Schrama
S M
SM
D001921:Brain / Q000473:pathology; D002648:Child; D003390:Cranial Nerve Neoplasms / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D005500:Follow-Up Studies; D005910:Glioma / Q000175:diagnosis / Q000209:etiology*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000209:etiology*; D011629:Puberty, Precocious / Q000209:etiology*
D019382:Human Growth Hormone