Evidence map›Paper›PMID 38753051›Full record

ArticleClinical journal of gastroenterology2024

Multiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.

Yusuke Sakai, Yoshiko Nakayama, Shingo Kurasawa, Tomomitsu Sado, Sawako Kato, Nao Hidaka, Shigeru Takamizawa, Katsumi Yoshizawa, Koichiro Yoshimaru, Tomoaki Taguchi

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical journal of gastroenterology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Yusuke SakaiDepartment of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, Japan.
Yoshiko NakayamaDepartment of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, Japan. ynaka@shinshu-u.ac.jp.ORCID http://orcid.org/0000-0003-1992-6834
Shingo KurasawaDepartment of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, Japan.
Tomomitsu SadoDepartment of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, Japan.
Sawako KatoDepartment of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, Japan.
Nao HidakaDepartment of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, Japan.
Shigeru TakamizawaDepartment of Surgery, Nagano Children's Hospital, 3100 Toyoshina, Azumino, Nagano, Japan.
Katsumi YoshizawaDepartment of Surgery, Nagano Children's Hospital, 3100 Toyoshina, Azumino, Nagano, Japan.
Koichiro YoshimaruDepartment of Pediatric Surgery, Reproductive and Developmental Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka, Japan.
Tomoaki TaguchiDepartment of Pediatric Surgery, Reproductive and Developmental Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Intestinal VolvulusMegacolonMultiple Endocrine Neoplasia Type 2bThyroid NeoplasmsAdolescentCarcinoma, NeuroendocrineConstipationGanglioneuromaHumansIntestine, SmallMaleProto-Oncogene Proteins c-retProto-Oncogene Proteins c-retRET protein, humanConstipationGanglioneuromatosisMegacolonMultiple endocrine neoplasia type 2BVolvulus

Identifiers

PMID38753051
PMCPMC11284186

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.