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Neurofibromatosis in childhood: a review of 25 cases
Insights
Neurofibromatosis in children can present with less common symptoms like hydrocephalus and failure to thrive. These early signs are crucial for timely diagnosis and intervention in pediatric neurofibromatosis cases.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
Background:
- Neurofibromatosis is a genetic disorder affecting nerve tissue growth.
- Early identification of diverse clinical manifestations is essential for management.
Observation:
- This study reports on the initial symptoms and signs in 25 pediatric patients with neurofibromatosis.
- Two previously underrecognized associations were identified.
Findings:
- Four children presented with hydrocephalus secondary to aqueductal stricture.
- Four children exhibited failure to thrive in infancy, a non-specific but relevant association.
Implications:
- Hydrocephalus and failure to thrive can be presenting features of pediatric neurofibromatosis.
- Recognizing these varied signs aids in earlier diagnosis and improved patient outcomes.
Abstract:
The initial symptoms and signs of neurofibromatosis in 25 children are reported, and the literature is briefly reviewed. Two little known associations of neurofibromatosis are revealed. Four children showed hydrocephalus related to stricture of the aqueduct of Sylvius. Four other children presented with failure to thrive in infancy which was regarded in retrospect as a non-specific association of neurofibromatosis. It is emphasized that such manifestations may be the presenting features of neurofibromatosis in children.