medwireNews: Tongue lesions, gastrointestinal problems and musculoskeletal complaints are the most common symptoms for which children are investigated in the years leading up to a multiple endocrine neoplasia type 2B (MEN2B) diagnosis, say researchers.

“An index of suspicion for MEN2B should be maintained when evaluating patients with a combination of relatively common pediatric issues”, they write in The Journal of Pediatrics.

Angeliki Makri (National Institutes of Health, Bethesda, Maryland, USA) and colleagues studied 38 patients with MEN2B. These 21 males and 17 females were diagnosed at an average age of 10.6 years, but most had been investigated around 5 years previously for a MEN2B-related symptom that was not attributed to the condition at the time.

The most common preceding complaints were gastrointestinal, with 12 patients referred for severe diarrhoea and/or constipation, or failure to thrive. And seven patients were evaluated for musculoskeletal issues, including persistent bone pain, hip/knee dislocations and repeated bone fractures following minor injuries. Two patients were investigated for both gastrointestinal and musculoskeletal problems.

A further five patients had been referred for tongue lesions, and were diagnosed with geographic tongue, tongue papillomatosis or behavioural/benign lesions.

“Because 90% of patients carry de novo mutations, diagnosis of MEN2B may not be made until late childhood or adolescence, when MTC [medullary thyroid cancer] has already developed and even metastasized”, say the researchers.

“Improved awareness of the early nonendocrine signs of MEN2B could lead to earlier diagnosis and intervention in these patients.”

Indeed, 17 of the patients had a MEN2B diagnosis made only after being investigated for a neck mass caused by MTC, three because of respiratory difficulties caused by intrathoracic tumour invasion and one after being diagnosed with a pheochromocytoma (catecholamine-producing tumour).

Altogether, 22 patients were finally diagnosed on the basis of endocrine manifestations and 13 because of other manifestations. The latter included oral neuromas, corneal nerve abnormalities, and persistent diarrhoea.

By Eleanor McDermid

J Pediatr 2018; doi:10.1016/j.jpeds.2018.08.022

medwireNews is an independent medical news service provided by Springer Healthcare. © 2018 Springer Healthcare part of the Springer Nature group