Abdominal Migraine in Children With Neurofibromatosis Type 1: A Case Series and Review of Gastrointestinal Involvement in NF1

Heuschkel, Robert; Kim, Sarah; Korf, Bruce R.; Schneider, Gretchen; Bousvaros, Athos

doi:10.1097/00005176-200108000-00010

Cited by 15 publications

(11 citation statements)

References 35 publications

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“…35 The latter 2 disorders have significant associations with inherited syndromes, namely, Cowden syndrome (ganglioneuromatous polyposis), 16,21,34 and MEN 2B or NF1 (ganglioneuromatosis). 6,12,15,29,33,35 As none of the patients in this study had more than 1 neural polyp at the time of evaluation of the index polyp, or upon follow-up, these disorders would not be diagnostic considerations. Solitary polypoid ganglioneuromas are the most common form of colorectal ganglioneuromas and are sporadic, not associated with inherited syndromes.…”

Section: Discussionmentioning

confidence: 91%

“…11,33,36 In contrast, involvement of the gastrointestinal (GI) tract is rare. Neural lesions of the colon are a heterogeneous group of disorders, which may present as masses (such as schwannomas and neurofibromas), 7,15,17,25,30,32 or, more commonly, as small colorectal polyps. The latter seem to be detected with increasing frequency, as colonoscopic screening for colorectal cancer becomes more widely used.…”

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confidence: 99%

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Mucosal Schwann Cell “Hamartoma”

Gibson¹,

Hornick²

2009

American Journal of Surgical Pathology

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Colorectal polyps containing S-100-positive neural proliferations in the lamina propria that lack ganglion cells have been variously referred to as "neuromas" or "neurofibromas." However, these lesions have not been systematically examined, and whether they are associated with type 1 neurofibromatosis (NF1) or other inherited syndromes is unknown. The aim of this study was to evaluate the clinicopathologic and immunohistochemical features of these lesions, in comparison to colorectal neurofibromas from known NF1 patients. Morphologically similar lesions from 26 patients (mean age, 62 y; range, 46 to 88 y; male/female ratio, 10/16) were retrieved from surgical pathology and consult files. Clinical and endoscopic data were obtained, and immunohistochemistry for S-100 protein, glial fibrillary acidic protein, neurofilament protein (NFP), epithelial membrane antigen, claudin-1, CD34, smooth muscle actin, and KIT was performed. The findings were compared with those in mucosal biopsies of 5 submucosal neurofibromas from NF1 patients. All 26 polyps were sessile, ranging from 1 to 6 mm in size (mean, 2.5 mm). Most arose in the distal colon (15 rectosigmoid, 7 descending, 2 transverse, and 2 ascending), and were incidentally found at screening colonoscopy. After a mean follow-up of 6.5 years (range, 3 mo to 17.5 y), none of the patients developed other neural polyps, and none had evidence of NF1 or other inherited syndromes. Histologically, the lamina propria of the polyps contained a diffuse cellular proliferation of uniform bland spindle cells with elongated, tapering nuclei, abundant, dense eosinophilic cytoplasm, and indistinct cell borders, entrapping adjacent crypts. No nuclear atypia, pleomorphism, mitotic activity, or associated ganglion cells were observed. All showed strong staining for S-100 protein in essentially 100% of cells. NFP highlighted rare axons in 7 lesions. All other markers were negative. The 5 neurofibromas showed similar histologic features, but were generally less uniformly cellular, showed some intralesional heterogeneity, and showed less extensive staining for S-100 protein; all contained scattered NFP-positive axons. In summary, solitary colorectal polyps containing pure Schwann cell proliferations in the lamina propria are not associated with NF1. Distinguishing these lesions from NF1-associated neurofibromas is difficult based on histologic features; the presence of an underlying submucosal nodule or mass should be excluded endoscopically, and immunohistochemistry should be performed. Although their nature is uncertain, we propose the interim designation "mucosal Schwann cell 'hamartoma'" to avoid confusion with the neural lesions that have significant associations with inherited syndromes.

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Section: Discussionmentioning

confidence: 91%

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confidence: 99%

Mucosal Schwann Cell “Hamartoma”

Gibson¹,

Hornick²

2009

American Journal of Surgical Pathology

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“…In a previous pilot study, we found that children with NF1 had abnormally large rectal diameters and a higher proportion than expected had prolonged colonic transit time [6]. A retrospective assessment of 126 children concluded that an abdominal migraine could be a significant cause of abdominal pain in children with NF1 [7]. For the present study, we hypothesized that adult patients with NF1 have an increased prevalence of gastrointestinal symptoms.…”

Section: Introductionmentioning

confidence: 77%

Constipation in adults with neurofibromatosis type 1

Ejerskov

Krogh

Østergaard

et al. 2017

Orphanet J Rare Dis

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BackgroundNeurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times are common in children with NF1. The aim of the present study was to investigate and compare the prevalence of gastrointestinal symptoms in adult patients with NF1 to their unaffected relatives serving as the control group. Patients with NF1 were recruited from one of two Danish National Centres of Expertise for NF1 and their unaffected relatives were invited to participate as controls. Gastrointestinal symptoms were assessed with a web-based, self-administered, validated, Rome® III diagnostic questionnaire. Logistic regression was used to estimate the prevalence of functional dyspepsia, IBS and functional constipation in each group and the groups were compared using their odds ratios.ResultsThe response rates for patients and controls were 66.4% and 82.4%, respectively. We compared 175 patients, median age 34.2 (IQR = 20.1) and 91 of their unaffected relatives, median age 42.0 (IQR = 12). The overall likelihood of fulfilling the diagnostic criteria for functional constipation, irritable bowel syndrome or functional dyspepsia was 33.1% among patients vs. 14.3% among controls, (odds ratio (OR): 2.97; 95% CI: 1.56–5.66) and after adjustment for age and gender (OR: 3.06; 95% CI: 1.62–5.79). The likelihood of functional constipation was higher among patients (OR: 3.80; 95% CI: 1.27–11.31), and this was still true after adjustment (OR: 3.49; 95% CI: 1.14–10.64). The likelihood of irritable bowel syndrome (OR: 2.29; 95% CI: 0.98–5.33) was evident after adjustment (OR: 2.46; 95% CI: 1.10–5.47), whereas there was no difference in the likelihood of functional dyspepsia (OR: 2.35; 95% CI: 0.67–8.32) after adjustment (OR:2.25; 95% CI: 0.70–7.17).ConclusionsOverall, having symptoms usually attributed to either functional dyspepsia, IBS or functional constipation is more common in adults with NF1 compared to unaffected relatives. Of the three, the likelihood of constipation is markedly higher. The high prevalence of constipation indicates that it is not functional but part of the NF1 disorder.

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“…Abdominal migraine has been reported as a cause of episodic abdominal pain in children with NF1 and may be more common than anatomic causes of abdominal pain. 68 Treatment with migraine medications, such as propranolol and cyproheptadine, can be helpful. Plexiform neurofibromas involving the mesentery or retroperitoneum are only rarely a source of abdominal pain, vomiting, and abdominal mass.…”

Section: Gastrointestinalmentioning

confidence: 99%

Health Supervision for Children With Neurofibromatosis Type 1

et al. 2019

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Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary manifestations emerge. Although NF1 is associated with marked clinical variability, most children affected follow patterns of growth and development within the normal range. Some features of NF1 can be present at birth, but most manifestations emerge with age, necessitating periodic monitoring to address ongoing health and developmental needs and minimize the risk of serious medical complications. In this report, we provide a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of NF1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the health and quality of life of a child affected. Health Supervision for Children With Neurofibromatosis Type 1http://pediatrics.aappublications.org/content/143/5/e20190660 located on the World Wide Web at:The online version of this article, along with updated information and services, is by the

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Abdominal Migraine in Children With Neurofibromatosis Type 1: A Case Series and Review of Gastrointestinal Involvement in NF1

Cited by 15 publications

References 35 publications

Mucosal Schwann Cell “Hamartoma”

Mucosal Schwann Cell “Hamartoma”

Constipation in adults with neurofibromatosis type 1

Health Supervision for Children With Neurofibromatosis Type 1

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