[Neurofibromatosis type I--the pediatric endocrinologist's point of view]
Dominika Januś1, Małgorzata Wójcik, Anna Kalicka-Kasperczyk
1Klinika Endokrynologii Dzieci i Młodziezy, Katedry Pediatrii, Polsko-Amerykański Instytut Pediatrii, Uniwersytet Jagielloński Collegium Medicum, Kraków. d.janus@wp.pl
Insights
Neurofibromatosis type I (NF-I) patients frequently experience growth disorders, including short and tall stature. Early endocrine consultation is recommended for all NF-I patients due to the high incidence of these conditions.
Area of Science:
- Pediatric Endocrinology
- Clinical Genetics
- Neuro-oncology
Context:
- Neurofibromatosis type I (NF-I) is a genetic disorder with diverse clinical manifestations.
- Endocrine and central nervous system (CNS) complications are significant concerns in NF-I management.
- This study analyzes endocrine disorders in pediatric NF-I patients at a specialized center.
Purpose:
- To retrospectively analyze the spectrum of endocrine disorders in patients with NF-I.
- To identify the prevalence of growth disturbances and precocious puberty in this cohort.
- To evaluate the association between endocrine abnormalities and CNS findings in NF-I.
Summary:
- Growth disorders, specifically short and tall stature, were common in NF-I patients.
- Tall stature was frequently associated with central precocious puberty (PD), often linked to optic pathway gliomas.
- Organic CNS disorders were identified in a majority of the patients, highlighting the systemic impact of NF-I.
Impact:
- Findings underscore the high prevalence of endocrine and somatic development disorders in NF-I.
- The study supports the recommendation for routine endocrine evaluation in all NF-I patients.
- This research contributes to a better understanding of NF-I's multifaceted nature and informs clinical management strategies.
Aim Of The Study:
A retrospective analysis of endocrine disorders in patients with neurofibromatosis type I consulted in the Children's University Hospital of Krakow in the period 2007-2010.
Material And Methods:
The analysis included 60 patients (33 girls, and 27 boys) aged 1.2-32 years, mean 11.6 years. The patients were followed up by many health care professionals: neurologists (EEG), neurosurgeons (CT, MRI), ophthalmologists, psychologists, ENT specialists, anthropologists (the assessment of body height and weight), geneticists, endocrinologists and gynecologists (the assessment of puberty according to Tanner scale, diagnostics of short stature, precocious puberty), and cardiologists (echo-cardiography).
Results:
In the analyzed group of 60 patients, 46 were consulted by geneticists, 20 by endocrinologists, 19 by neurologists and cardiologists. The imaging of the central nervous system (CNS) was performed in 37 patients. Twenty-two patients presented with familial NF-I, 13 with sporadic NF-I, and in 25 patients, the family history was unavailable. Growth disorders were present in 27.7% of patients (13/47) that were referred to the anthropometric assessment. Short stature (height < or = (-) 2 SD) was recognized in 9/47 of children (19.1%). Tall stature (> (+) 2 SD) was recognized in 4/47 of patients (8.5%). All of the patients with tall stature presented with central precocious puberty (PD). Precocious puberty was also recognized in two children with normal stature. In all cases of PD, optic chiasm gliomas were recognized. Generally, organic CSN disorders were detected in 24 patients (63.2%). MRI revealed optic chiasm gliomas in 8 patients, 4 presented with gliomas of one or two optic nerves, 10 presented with hyperintensive areas on T2-weighted images, without enhancement after contrast injection, that may suggest the diagnosis of hamartoma of the CNS, and 2 with hydrocephaly.
Conclusions:
1. The most common disorders of the somatic development revealed in NF-I patients are growth disorders: short stature and tall stature caused by central precocious puberty. 2. In view of the incidence of endocrine disorders in patients with NF-I, the authors suggest an endocrine consultation in each case of NF-I.
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