Multiple Endocrine Neoplasia Type 2b (MEN2B) in a 9-Year-Old Female

Kao, Solon; Capua, Christopher J.; Abdelsayed, Rafik

doi:10.1016/j.joms.2018.03.042

Cited by 3 publications

(1 citation statement)

References 16 publications

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“…In the recently published German GPOH-MET registry study, the relatively late appearance of mucosal neuromas/neurofibromas (mean age 10.1 year) did not significantly precede symptoms of MTC [ 12 ]. However, this feature should be a trigger for further diagnostic work-up and can lead to MEN2B diagnosis [ 33 – 35 ]. The characteristic wide maxillary midline diastema is a non-specific feature as a midline diastema is a normal stage of dental development with a prevalence of 25–40% in children with a mixed dentition [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series

et al. 2021

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Background Medullary thyroid carcinoma (MTC) in childhood is rare and has an unfavorable prognosis. To improve outcome, early diagnosis is essential. In patients with multiple endocrine neoplasia type 2B (MEN2B), MTC can occur already before the age of 1 year. Recognition of non-endocrine features of MEN2B may lead to timely diagnosis. Purpose To describe how early recognition of non-endocrine features can lead to a timely diagnosis of MEN2B as well as the effect of recognition of premonitory symptoms on prognosis. Methods A retrospective case series from the University Medical Center Utrecht/Wilhelmina Children’s Hospital, a Dutch national expertise center for MEN patients. All eight MEN2B patients in follow-up between 1976 and 2020 were included and medical records reviewed. Results Intestinal ganglioneuromatosis (IGN) as the cause of gastrointestinal (GI) symptoms was detected in seven patients. In three of them within months after birth. This led to early diagnosis of MEN2B, which allowed subsequent curative thyroid surgery. On the contrary, a MEN2B diagnosis later in childhood—in three patients (also) triggered by oral neuromas/neurofibromas—led to recurrent, persistent, and/or progressive MTC in five patients. Conclusions Neonatal GI manifestations offer the most important window of opportunity for early detection of MEN2B. By accurate evaluation of rectal biopsies in patients with early onset severe constipation, IGN can be timely detected, while ruling out Hirschsprung’s disease. MEN2B gene analysis should follow detection of IGN and—when confirmed—should prompt possibly still curative thyroid surgery.

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