Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease)

Abstract

Gastrointestinal involvement in von Recklinghausen's disease occurs in three principal forms: hyperplasia of the submucosal and myenteric nerve plexuses and mucosal ganglioneuromatosis which leads to disordered gut motility; gastrointestinal stromal tumours showing varying degrees of neural or smooth muscle differentiation; and a distinctive glandular, somatostatin-rich carcinoid of the periampullary region of the duodenum that contains psammoma bodies and which may be associated with phaeochromocytoma. This review describes the histopathological features of these lesions and discusses potential pitfalls in their differential diagnosis. Their accurate identification has significant implications for clinical management and may even provide the first pointer to the diagnosis of neurofibromatosis.

Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development

“…Indeed, rus has been implicated in fiber outgrowth from both neuronal cell lines (Guerrero et al, 1986;Hagag et al, 1986;Noda et al, 1985) and from primary neurons (Borasio et al, 1989). Overgrowth of nerve fibers in the enteric nervous system (Fuller and Williams, 1991) has been described in NF1 patients. Thus, the regulation of axonal growth may be impaired in some NF1 patients.…”

GISTs múltiplos em neurofibromatose tipo 1: diagnóstico incidental em paciente com abdome agudo

“…Tem-se observado também que a associação de GIST e neurofibromatose tipo 1 aparece com maior frequência no jejuno e no íleo, outra característica observada no caso relatado, enquanto que os casos esporádicos são observados Gists múltiplos em neurofibromatose tipo 1: diagnóstico incidental em paciente com abdome agudo com maior frequência no estômago (60%)9. Em uma série de 15 pacientes com GIST e neurofibromatose tipo 1, todos apresentavam lesões no intestino delgado e em outra série de 45 pacientes, apenas um indivíduo apresentava lesões no estômago 5 . Outra característica peculiar é que os GISTs associados à neurofibromatose tipo 1 tendem a ser múltiplos e multicêntricos 10 .…”

“…Os indivíduos portadores apresentam risco aumentado de desenvolver neoplasias malignas em geral, incluindo tumores carcinóides, feocromocitoma e GISTs 14 . Em uma série de necropsias em pacientes com neurofibromatose tipo 1, foi detectada a presença de GISTs incidentais em um terço dos indivíduos 5 . No entanto, a verdadeira incidência dos GISTs e a possibilidade destes tumores se tornarem clinicamente significantes não é conhecida.…”

Health Supervision for Children With Neurofibromatosis

“…Evaluation for gastrointestinal complications should be pursued in the presence of unexplained anemia or weight loss, abdominal bloating, sudden or persistent abdominal pain, chronic diarrhea, signs of malabsorption, gastrointestinal bleeding, or recurrent emesis. 29,30 Seizures occur in 6% to 7% of cases. 12 Although electroencephalographic abnormalities are commonly reported, electroencephalography is not routinely recommended.…”