Incidental Delayed Diagnosis of Isolated Diffuse Ganglioneuromatosis Caused the Death of a 6-Year-Old Boy: Case Report

Intestinal diffuse ganglioneuromatosis is a rare, benign, neoplastic condition characterized by disseminated proliferation of neural elements. It has an established association with several systemic disorders including: multiple endocrine neoplasia IIB (MEN IIB) and von Recklinghausen’s disease. However, isolated GNs are very rare and sporadic. We report a case of a 6-year-old patient was referred to the emergency department due to a colon perforation during endoscopy. He then underwent sigmoidectomy and the pathologic studies revealed prominent signs of diffuse ganglioneuromatosis. Unfortunately, the patient died the day after because of the late diagnosis and treatment. Such presentation emphasizes the importance of considering diffuse ganglioneuromatosis, among other causes, in patients with intractable GI symptoms despite medical treatment.

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Multiple endocrine neoplasia type 2A syndrome with atypical biological behavior a case report and review of the literature

10.26226/morressier.5b4709846f4cb30010951b54 ◽

2018 ◽

Author(s):

Pedro Heitor ◽

Davide Gigliano

Keyword(s):

Case Report ◽

Multiple Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Type ◽

Biological Behavior ◽

Review Of The Literature ◽

Endocrine Neoplasia ◽

Endocrine Neoplasia Type

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Molecular diagnosis and treatment of multiple endocrine neoplasia type 2B in Ethnic Han Chinese

Endocrine Metabolic & Immune Disorders - Drug Targets ◽

10.2174/1871530320666200910112230 ◽

2020 ◽

Vol 20 ◽

Author(s):

Zhe-Wei Zhang ◽

Xiao Guo ◽

Xiao-Ping Qi

Keyword(s):

Multiple Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Type ◽

Histopathological Examination ◽

Diagnosis And Treatment ◽

De Novo Mutation ◽

Neck Lymph Node ◽

Serum Calcitonin ◽

Endocrine Neoplasia ◽

Endocrine Neoplasia Type ◽

Men 2B

Background: Multiple endocrine neoplasia type 2B (MEN 2B) is mainly caused by M918T RET germline mutation, and characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO) and non-endocrine features. However, the diagnosis and treatment are usually delayed. Materials & Methods: This study reports 5 Chinese pedigrees with 5 individuals harboring germline RET-M918T, and systematically reviewed previous Chinese literatures. Results: All 5 patients initially presented MTC, but none had biochemically cured postoperatively. 2 also presented bilateral PHEO after adrenal-sparing surgery, 1 needed steroid replacement. Further, totally 32 MEN 2B patients from literatures were clustered with 28 available for analysis. 26 (92.8%) were diagnosed by endocrine-related symptoms; the remaining 2 (7.2%) due to RET testing and oral symptoms respectively. 25 patients underwent thyroidectomy with/without neck lymph node dissection at mean age of (23.3 ± 10.4) years. Histopathological examination revealed MTC (100%). Of them, 17 had definite TNM stage, with 1 in stage Ⅲ and others in Ⅳ. Other information of MEN 2B-related symptoms included penetrance of PHEO (60.7%), constipation (32.1%), Hirschsprung disease (25%), alacrima (17.8%), mucosal ganglioneuroma (96.4%) and marfanoid habitus (71.4%). 19 patients were verified harboring RET-M918T (c.2753T>C), of whom 15 (78.9%) were de novo mutation. The other 9 were clinically diagnosed as MEN 2B. Discussion & Conclusion : The initial diagnosis of MEN 2B is relatively later, and diagnosed by non-endocrine components is extremely lower. Recognition of MEN 2B and its non-endocrine-related components is still the utmost requirement for a Chinese physician. Combined RET screening and serum calcitonin detection can facilitate early diagnosis.

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