Gastrointestinal Manifestations of Neurofibromatosis in Childhood

Abstract

Von Recklinghausen's neurofibromatosis (VRN) is a familial disorder characterised by a generalized neuroectodermal dysplasia--symptomatic involvement of the gastrointestinal tract is rare. We report on our experience with two children who had proven gastrointestinal neurofibromas and highlight the need for careful assessment in children with VRN who develop abdominal pain.

Long-term outcome after removal of spinal neurofibroma

“…One patient died of a malignant neurofibrosarcoma and one of intestinal occlusion, possibly as a consequence of intestinal neurofibromatosis. 12 The observed excess in mortality among non-NF1 patients probably reflects the poor neurological condition of some of the patients.…”

Intestinal mesenteric involvement with plexiform neurofibroma in neurofibromatosis type 1

“…These vague clinical presentation findings have led many clinicians to attribute these symptoms to other more common causes, and consequently diagnosis may be delayed. In this review, five cases presented with abdominal symptoms, including mild abdominal pain and distension, and occasionally, nausea and vomiting 6–8 . In contrast, there were four (45%) patients that were truly asymptomatic 2,4,5,9 .…”

“…1 However, the majority of small mesenteric PNF are asymptomatic. When they are large, patients tend to present more often with only intermittent abdominal pain, which is nonspecifi c. 6 Interestingly, we postulate that panmesenteric involvement can lead to progressive vascular and lymphatic obstruction, resulting in bowel edema, loss of protein rich chyle into the bowel lumen causing hypoproteinemia, and impaired absorption. Supporting this, we noted mesenteric venous dilation, multiple lymph adenopathies and intestinal edema at laparotomy.…”

“…This literature review allows us to analyze nine children (including ours) having mesenteric PNF associated with NF1 (Table 1). 2,4–9 The average age at diagnosis of nine patients was 9.2 years, ranging from 6 to 15 years, and five patients were diagnosed at less than 10 years. The low mean of ages is the result of early diagnosis of asymptomatic cases.…”

Pathology of Pediatric Gastrointestinal and Liver Disease

“…Neurofi bromas may affect the gastrointestinal tract in children, both as sporadic forms and also in association with NF1 (Beck et al 1986 ;Frawley et al 1997 ;Kataria et al 1997 ;Losty et al 1993 ;Matsuki et al 1997 ). Their histologic appearance is similar to neurofi bromas found elsewhere.…”