Multiple endocrine neoplasia type 2B (MEN2B) diagnosis: a case report.

ABSTRACT:

Background

Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant syndrome characterized by medullary carcinoma of the early thyroid, pheochromocytoma, and non-endocrine manifestations, such as marfanoid habits and other skeletal abnormalities as well as mucosal neuromas and ganglioneuromatosis of the gastrointestinal tract.

Case description

A 10-year-old male began follow-up at our service at 3 years of age through pediatric gastroenterology due to intestinal constipation. The mother also reported that the child had painless lesions on the tip of the tongue since birth with progressive worsening. The patient simultaneously began follow-up with pediatric endocrinology due to low gains in weight and height, between which only isolated low weight was found,

SUBMITTER: Tuckumantel MS 

PROVIDER: S-EPMC11459408 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature