Multiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.
Constipation
Ganglioneuromatosis
Megacolon
Multiple endocrine neoplasia type 2B
Volvulus
Journal
Clinical journal of gastroenterology
ISSN: 1865-7265
Titre abrégé: Clin J Gastroenterol
Pays: Japan
ID NLM: 101477246
Informations de publication
Date de publication:
16 May 2024
16 May 2024
Historique:
received:
28
11
2023
accepted:
02
05
2024
medline:
16
5
2024
pubmed:
16
5
2024
entrez:
16
5
2024
Statut:
aheadofprint
Résumé
Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B. The patient complained of constipation since he was 2 years old and slowly progressive abdominal distension at school age. At 14 years of age, he presented with remarkable megacolon mimicking Hirschsprung's disease and complicated with small intestinal volvulus. The volvulus was successfully repaired, and the particularly dilated transverse colon was resected following a rectal biopsy. Histopathological evaluation of the resected transverse colon revealed to be compatible with ganglioneuromatosis. After emergency surgery, the patient was diagnosed with multiple endocrine neoplasia type 2B with medullary thyroid carcinoma, and a de novo variant of RET was confirmed. Gastroenterologists should consider it when treating patients with constipation, especially those with megacolon. Therefore, timely diagnosis may lead to appropriate treatment of medullary thyroid carcinoma and improve mortality.
Identifiants
pubmed: 38753051
doi: 10.1007/s12328-024-01979-y
pii: 10.1007/s12328-024-01979-y
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
Références
Schimke RN, Hartmann WH, Prout TE, et al. Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. N Engl J Med. 1968;279:1–7.
doi: 10.1056/NEJM196807042790101
pubmed: 4968712
Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. Int RET Mutat Consort Anal JAMA. 1996;276:1575–9.
Marini F, Falchetti A, Del Monte F, et al. Multiple endocrine neoplasia type 2. Orphanet J Rare Dis. 2006;14(1):45.
doi: 10.1186/1750-1172-1-45
Wells SA Jr, Asa SL, Dralle H, et al. Revised American thyroid association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015;25:567–610.
doi: 10.1089/thy.2014.0335
pubmed: 25810047
pmcid: 4490627
Brauckhoff M, Machens A, Hess S, et al. Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: an exploratory analysis. Surgery. 2008;144:1044–50.
doi: 10.1016/j.surg.2008.08.028
pubmed: 19041016
Smith VV, Eng C, Milla PJ. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment. Gut. 1999;45:143–6.
doi: 10.1136/gut.45.1.143
pubmed: 10369718
pmcid: 1727575
Cohen MS, Phay JE, Albinson C, et al. Gastrointestinal manifestations of multiple endocrine neoplasia type 2. Ann Surg. 2002;235:648–54.
doi: 10.1097/00000658-200205000-00006
pubmed: 11981210
pmcid: 1422490
Carney JA, Go VL, Sizemore GW, et al. Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med. 1976;295:1287–91.
doi: 10.1056/NEJM197612022952304
pubmed: 980061
Machens A, Lorenz K, Sekulla C, et al. Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millenium. Eur J Endocrinol. 2013;168:307–14.
doi: 10.1530/EJE-12-0919
pubmed: 23211574
Brauckhoff M, Machens A, Lorenz K, et al. Surgical curability of medullary thyroid cancer in multiple endocrine neoplasia 2B: a changing perspective. Ann Surg. 2014;259:800–6.
doi: 10.1097/SLA.0b013e3182a6f43a
pubmed: 23979292
Brauckhoff M, Gimm O, Weiss CL, et al. Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease. World J Surg. 2004;28:1305–11.
doi: 10.1007/s00268-004-7637-4
pubmed: 15517484
Nagaoka R, Sugitani I, Sanada M, et al. The reality of multiple endocrine neoplasia Type 2B diagnosis: awareness of unique physical appearance is important. J Nippon Med Sch. 2018;85:178–82.
doi: 10.1272/jnms.JNMS.2018_85-26
pubmed: 30135345
Gfroerer S, Theilen TM, Fiegel H, et al. Identification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy. J Pediatr Surg. 2017;52:1161–5.
doi: 10.1016/j.jpedsurg.2016.10.054
pubmed: 27899172
Goncharova M, Grey J, Druce M. Impact of gastrointestinal symptoms on quality of life in MEN2. Clin Endocrinol (Oxf). 2021;94:606–15.
doi: 10.1111/cen.14366
pubmed: 33171530
Gibbons D, Camilleri M, Nelson AD, et al. Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B. United Eur Gastroenterol J. 2016;4:449–54.
doi: 10.1177/2050640615611630
Matsushita R, Sakurai A, Minamitani K, et al. Extra-endocrine phenotypes at infancy in multiple endocrine neoplasia type 2B: a case series of six Japanese patients. Clin Pediatr Endocrinol. 2021;30:195–200.
doi: 10.1297/cpe.30.195
pubmed: 34629742
pmcid: 8481076
Muto M, Matsufuji H, Taguchi T, et al. Japanese clinical practice guidelines for allied disorders of Hirschsprung’s disease, 2017. Pediatr Int. 2018;60:400–10.
doi: 10.1111/ped.13559
pubmed: 29878629
Hutson JM, Farmer PJ, Peck CJ, et al. Multiple endocrine neoplasia 2B: differential increase in enteric nerve subgroups in muscle and mucosa. World J Gastrointest Pathophysiol. 2017;8:142–9.
doi: 10.4291/wjgp.v8.i3.142
pubmed: 28868184
pmcid: 5561435
Evans CA, Nesbitt IM, Walker J, et al. MEN 2B syndrome should be part of the working diagnosis of constipation of the newborn. Histopathology. 2008;52:646–8.
doi: 10.1111/j.1365-2559.2008.02984.x
pubmed: 18312348
Coyle D, Friedmacher F, Puri P. The association between Hirschsprung’s disease and multiple endocrine neoplasia type 2a: a systematic review. Pediatr Surg Int. 2014;30:751–6.
doi: 10.1007/s00383-014-3538-2
pubmed: 24972642
van den Broek MFM, Rijks EBG, Nikkels PGJ, et al. Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series. Endocrine. 2021;72:905–14.
doi: 10.1007/s12020-021-02607-2
pubmed: 33474713
pmcid: 8159807
de Krijger RR, Brooks A, van der Harst E, et al. Constipation as the presenting symptom in de novo multiple endocrine neoplasia type 2B. Pediatrics. 1998;102:405–8.
doi: 10.1542/peds.102.2.405
pubmed: 9714654
Taguchi T, Kobayashi H, Kanamori Y, et al. Isolated intestinal neuronal dysplasia type B (IND-B) in Japan: results from a nationwide survey. Pediatr Surg Int. 2014;30:815–22.
doi: 10.1007/s00383-014-3542-6
pubmed: 25052255
Meier-Ruge WA, Ammann K, Bruder E, et al. Updated results on intestinal neuronal dysplasia (IND B). Eur J Pediatr Surg. 2004;14:384–91.
doi: 10.1055/s-2004-821120
pubmed: 15630639
Cruz SR, Colwell JA. Pheochromocytoma and ileus. JAMA. 1972;219:1050–1.
doi: 10.1001/jama.1972.03190340056012
pubmed: 5066761