Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series

Background Medullary thyroid carcinoma (MTC) in childhood is rare and has an unfavorable prognosis. To improve outcome, early diagnosis is essential. In patients with multiple endocrine neoplasia type 2B (MEN2B), MTC can occur already before the age of 1 year. Recognition of non-endocrine features of MEN2B may lead to timely diagnosis. Purpose To describe how early recognition of non-endocrine features can lead to a timely diagnosis of MEN2B as well as the effect of recognition of premonitory symptoms on prognosis. Methods A retrospective case series from the University Medical Center Utrecht/Wilhelmina Children’s Hospital, a Dutch national expertise center for MEN patients. All eight MEN2B patients in follow-up between 1976 and 2020 were included and medical records reviewed. Results Intestinal ganglioneuromatosis (IGN) as the cause of gastrointestinal (GI) symptoms was detected in seven patients. In three of them within months after birth. This led to early diagnosis of MEN2B, which allowed subsequent curative thyroid surgery. On the contrary, a MEN2B diagnosis later in childhood—in three patients (also) triggered by oral neuromas/neurofibromas—led to recurrent, persistent, and/or progressive MTC in five patients. Conclusions Neonatal GI manifestations offer the most important window of opportunity for early detection of MEN2B. By accurate evaluation of rectal biopsies in patients with early onset severe constipation, IGN can be timely detected, while ruling out Hirschsprung’s disease. MEN2B gene analysis should follow detection of IGN and—when confirmed—should prompt possibly still curative thyroid surgery.

A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception

Ganglioneuromas are benign neurogenic neoplasms commonly seen in children which are originating from neural crest cells of sympathetic ganglia or adrenal medulla. Rarely, they may arise from the visceral organs like intestine. Diffuse intestinal ganglioneuromatosis is a rare disease, caused due to abnormal proliferation of ganglion cells, nerve fibres and schwann cells in the wall of intestine. Author hereby present a case of diffuse intestinal ganglioneuromatosis in an 18-month-old male child who presented with symptoms of small bowel obstruction. Resected segment of ileocecal junction revealed ulcero-nodular areas which on microscopy showed diffuse hyperplasia of nerve bundles and ganglion cells with immunohistochemistry confirmation. Intestinal ganglioneuromatosis is a rare condition having syndromic association with MEN-2B, Neurofibromatosis-1 and Cowden syndrome. As this disease has a low clinical suspicion, very nonspecific symptoms and radiological findings, histopathological examination becomes mainstay in diagnosis. Further workup is essential to rule out presence of associated syndromes.Surgical excision is the ultimate treatment with screening for genetic abnormalities.

Una patología muy infrecuente: ganglioneuromatosis intestinal. Reporte de un caso

Intestinal ganglioneuromatosis is an unusual pathology, especially in adults. It is associated with multiple endocrine neoplasia type IIb and Von Recklinghausen´s neurofibromatosis. Histologically, it is characterized by hyperplasia of the intramural plexuses of the gastrointestinal tract and enteric nerve fibres. Clinical manifestations include abdominal pain, distension and changes in bowel habits. We report the case of a 38-year-old patient, with a multiple endocrine neoplasia syndrome type IIb, presenting with repeated partial or complete intestinal obstruction that requires partial colectomy. Pathology of the resected colon revealed intestinal ganglioneuromatosis.

Duodenal ganglioneuromatosis causing common bile duct obstruction in a dog

A 3-year-old intact female labrador retriever dog was presented for anorexia, weight loss and vomiting. Abdominal ultrasonography revealed a mass of the descending duodenum involving the major duodenal papilla with loss of the normal intestinal wall layering. The distal part of the common bile duct was circumferentially thickened obliterating its lumen and causing extrahepatic biliary obstruction. Exploratory laparotomy was undertaken, total descending duodenum excision with gastrojejunostomy, cholecystojejunostomy and pancreaticojejunostomy procedures were performed. The dog died 3 days postoperatively. Histopathological and immunohistochemistry examinations of the specimens from the duodenectomy demonstrated multinodular to diffuse intestinal ganglioneuromatosis. This is the first reported case of an intestinal ganglioneuromatosis, a rare hyperplastic proliferation of ganglion cells and nerves of the enteric autonomic nervous system, involving the duodenum and causing extrahepatic biliary obstruction.

Constipation with megacolon in a 36-year-old man: a rare presentation of MEN2B from Sri Lanka

Diffuse intestinal ganglioneuromatosis is a rare condition associated with MEN2B. It is also seen in conditions like neurofibromatosis type 1 and Cowden syndrome. This is a report of a patient who underwent total colectomy with end ileostomy creation for a megacolon. He was diagnosed to have diffuse ganglioneuromatosis on histological examination of the resected segment of colon. The definitive management of diffuse ganglioneuromatosis is to resect and anastomose.

Isolated intestinal ganglioneuromatosis - A rare entity

Intestinal ganglioneuromatosis are rare benign tumour of ganglionic cell origin, most of them associated with neurofi bromatosis type I and multiple endocrine neoplasia type IIB. They are benign tumours with rare malignant transformation, have a varied clinical presentation and long indolent course. Surgical resection is the only modality of treatment and diagnosis is based on histopathological examination and immunohistochemistry. We report a case, 55 year old male who was diagnosed as a case of isolated intestinal ganglioneuromatosis, i.e no association with neurofibromatosis type I and multiple endocrine neoplasia type IIB. He is on regular follow up with normal daily activities and no evidence of recurrence.Journal of Kathmandu Medical College, Vol. 5, No. 4, Issue 18, Oct.-Dec., 2016, Page: 131-135