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Genetics and Metabolism

Neurofibromatosis type I: points to be considered by general pediatricians

Eungu Kang, Hee Mang Yoon, Beom Hee Lee

Clin Exp Pediatr. 2021;64(4):149-156. Published online July 15, 2020

Web of Science 12 Crossref 13

Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients...

DOI: https://doi.org/10.3345/cep.2020.00871

Case Report

Neurofibromatosis Type 1 with Cerebellar Piloytic Astrocytoma

In-Sang Jeon, Jung Sun Kim, Ji Hye Kim, Na Rae Kim

Clin Exp Pediatr. 2004;47(4):458-461. Published online April 15, 2004

Neurofibromatosis type 1(NF1) is one of the most common inherited disorders, clinically characterized by caf -au-lait spots, Lisch nodules and neurofibromas. In addition, the affected individuals usually develop benign and malignant tumors of the nervous system. One of the most common tumors is the optic nerve glioma. NF1-associated glioma, however, rarely occurs in the cerebellum. Recently, we experienced a NF1-associated...

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