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Review Article
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
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...
Original Article
Neurofibromatosis type 1: a single center's experience in Korea
Min Jeong Kim, Chong Kun Cheon
Clin Exp Pediatr. 2014;57(9):410-415.   Published online September 30, 2014

Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1.


A total of 42 patients, 14 females and 28 males, were enrolled...

Case Report
Gastric neurofibroma in von Recklinghausen disease : a cause of upper gastrointestinal bleeding
Bo Sang Kwon, Jeong Ok Shim, Jeong Kee Seo, Hye Ran Yang, Jae Sung Ko, Seong Eun Jung, Woo Sun Kim, Gyeong Hoon Kang
Clin Exp Pediatr. 2006;49(2):203-207.   Published online February 15, 2006
Neurofibromatosis type 1 (von Recklinghausen disease, NF1) involves the central and peripheral nervous systems as well as the skin, bone, endocrine, gastrointestinal and vascular systems. The gastrointestinal neurofibroma associated with NF1 has been infrequently reported. We report our experience with a 15-year-old boy who had a gastric plexiform neurofibroma with upper gastrointestinal bleeding and underwent a tumorectomy because of massive...
A Case of Neurofibromatosis Combined with Ectopic Kidney
Eugene Yang, Bo Hyun Kim, Joon Soo Lee
Clin Exp Pediatr. 2005;48(4):448-452.   Published online April 15, 2005
Neurofibromatosis(NF) is an autosomal dominant disorder, probably of neural crest origin that affects all three germinal layers. It is a group of heterogeneous multisystemic neurocutaneous disorders involving both neuroectodermal and mesenchymal derivatives. Type 1(von Recklinghausen disease) is the most common neurocutaneous disorder among the eight subtypes. Previous reports showed various involvements in the renal organ. Renovascular hypertension is the most...
A Case of Moyamoya Disease with Neurofibromatosis Type I
Mi A Lee, Joo Pil Eum, Hae Young Lee, Byung Ho Cha
Clin Exp Pediatr. 2005;48(1):93-96.   Published online January 15, 2005
Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, bony displasia, and intertriginous freckling. One of the more serious aspect of the disease relates to the arterial involvement. Vascular changes in neurofibromatosis may occur in any arterial tree...
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...
A Case of Neurofibromatosis with Multiple Neurofibromas on Mesentery
Pil Geung Hwang, Sun Young Park, Tae Gyu Whang, Soon Yong Lee
Clin Exp Pediatr. 1997;40(2):270-273.   Published online February 15, 1997
Neurofibromatos is originally described by von-Recklinhausen in 1882, is often depicted as a chronic progressive hereditary disease characterized by pigmentation of the skin, cutaneus lesions, and numerous tumors developing in association with elements of both the central and peripheral nervous tissue. Mesenteric involvements in neurofibromatosis are very rare in childrens. We experienced a case of neurofibromatosis with multiple neurofibromas on mesentery in...
Original Article
A case of atypical neurofibromatosis type 1.
Eun Joo Choi, Young Hyuk Lee, Min Hee Kim, Kyo Sun Kim
Clin Exp Pediatr. 1991;34(7):1034-1039.   Published online July 31, 1991
Almost of all patients with neurofibromatosis type I show caf6-au-lait macules on their skin. These macules are thought to be early sign of neurofibromatosis in childhood. We experienced a case of neurofibromatosis type I in a 10-year-old-boy who did not have caf6-au-lait macules, but progressive psychomotor retardation, short attention span, hyperactivity and megalencephaly. The brain C-T findings showed diffuse cerebromalacia and ventriculomegaly. We confirmed the...
Clinical Study on 19 Cases of Neurocutaneous Syndrome in Children.
S H Lee, S J Kim, H D Cha, H S Kim, T C Kwon, C M Kang
Clin Exp Pediatr. 1988;31(3):355-361.   Published online March 31, 1988
The clinical study on 19 cases of neurocutaneous syndrome which were diagnosed at Pediatric Department of Dong San hospital, Keimyung University for last 10 years from Mar. 1975 to Feb. 1985 were performed and following results were obtained. Out of 19 cases, 11 cases were neurofibromatosis, 4 were Tuberous sclerosis and 4 were Sturge- Weber syndrome. 9 cases were male and 10 cases were...
A Case of Juvenile Chronic Myelogenous Leukemia Associated with Juvenile Xanthogranuloma.
Eun Yong Lee, Jin Tae Kim, Young Sook Hong, Soon Kyun Kim, Hyun Keum Lee
Clin Exp Pediatr. 1987;30(11):1299-1304.   Published online November 30, 1987
We experienced a case of juvenile chronic myelogenous leukemia associated with juvenile xanthogranuloma and neurofibromatosis. This 1-year 6-month-old male patient had multipe cafg-au-lait spots, numerous nontender, yellowish, dome-shaped papules and nodules, hepatosplenomegaly, and pneumonia. Hematologic & bone marrow examinations, chromosomal study, and skin biopsy were performed for diagnosis. A brief review of the related literatures was added.
A Case of Neurofibromatosis with Renal Artery Aneurysm.
H J Park, Y H Park, Y T Kim, K C Sohn
Clin Exp Pediatr. 1987;30(2):212-217.   Published online February 28, 1987
A case of neurofibromatosis accompanied with renal artery aneurysm in a 14-year-old male was reported. Hypertension of the renovascular origin was improved after left nephrectomy. A brief review of literatures was presented.
Case Report
A Case of Neurofibromatosis associated with Pseudoarthrosis of the Ulna.
Ju Yeong Seo, Woo Yeong Chung, Soon Yong Lee, Kil Hyun Kim, Yeon Soon Kim
Clin Exp Pediatr. 1984;27(5):516-520.   Published online May 31, 1984
We experienced a case of neurofibromatosis associated with pseudoarthrosis of the ulna in a 5-year-old boy. He had multiple cafe-au-lait spots, neurofibromas, and macrocranium with positive family history. A review of literatures was also presented briefly.
A Case of Neurofibromatosis.
In Kyung Sung, Sung Won Kang, Ik Jun Lee, Sung Hoon Cho
Clin Exp Pediatr. 1983;26(1):97-101.   Published online January 31, 1983
Neurofibromatosis, first described by Von Recklinghausen in 1882, is characterized by multiple areas of pigmentation in association with tissue overgrowth of nerve sheath and fibrous tissue elements. We experienced a case of neurofibromatosis with megalencephaly in a 12-years old boy. A brief review of the related literature is given.
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