Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center.
Neurosciences (Riyadh)
; 25(5): 375-379, 2020 Oct.
Article
en En
| MEDLINE
| ID: mdl-33459286
ABSTRACT
OBJECTIVE:
To identify the clinical and neuroradiological features of neurofibromatosis type 1 and the risk of malignancy in a pediatric age group.METHODS:
This observational retrospective cohort study was conducted at King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia, for the patients with neurofibromatosis type 1 who were seen and had follow up from January 2000 to January 2019.RESULTS:
A total of 50 children were included. Approximately 90% of patients presented with cafe-au-lait macules, and 34% had skin-fold freckling. Moreover, 42% of the participants had a first-degree relative with neurofibromatosis type 1, and about a quarter presented with associated epilepsy. About 90% of the neuroradiological features were consistent with those of neurofibromatosis type 1. About 52% of the patients had one or multiple types of tumors, and 34% presented with optic pathway glioma.CONCLUSION:
This study described clinical spectrum of neurofibromatosis type 1 among children. It showed also a higher percentage of tumors than previous studies.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Neurofibromatosis 1
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
País/Región como asunto:
Asia
Idioma:
En
Año:
2020
Tipo del documento:
Article