Neurofibromatosis type I and intestinal neuronal dysplasia type B in a child: report of one case.
Constipation is a common gastrointestinal complication in type I neurofibromatosis (NF-1). We present a 4-year-8-month-old boy with NF-1 bothered by chronic episodic constipation and diarrhea since early childhood. Rectal suction biopsy confirmed the diagnosis of intestinal neuronal dysplasia. To our knowledge, this is the first Chinese child reported to have such association.
Wu
Jia-Feng
JF
Department of Pediatrics, National Taiwan University Hospital, 7, Chung-Shan S. Rd., Taipei, Taiwan.
Chen
Huey-Ling
HL
Peng
Steven Shinn-Ferng
SS
Yu
Tsui-Wen
TW
Lee
Wang-Tso
WT
Chang
Mei-Hwei
MH
D002675:Child, Preschool; D003248:Constipation / Q000150:complications; D003967:Diarrhea / Q000150:complications; D017615:Enteric Nervous System / Q000002:abnormalities*; D006801:Humans; D007422:Intestines / Q000294:innervation*; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications*