Mucosal neuroma syndrome presenting in a neonate.
A case of multiple mucosal neuromata and a calcitonin-secreting medullary carcinoma of the thyroid is described. Unusual features were the neonatal presentation with large bowel obstruction and severe feeding difficulties associated with giant neuromata of the intestine; severe hypotonia; developmental delay; and the early recognition and treatment of an associated medullary carcinoma of the thyroid.
D002116:Calcitonin / Q000378:metabolism; D002277:Carcinoma / Q000175:diagnosis* / Q000378:metabolism; D002675:Child, Preschool; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D009092:Mucous Membrane / Q000473:pathology; D009123:Muscle Hypotonia / Q000175:diagnosis; D009463:Neuroma / Q000175:diagnosis* / Q000473:pathology; D012004:Rectal Neoplasms / Q000175:diagnosis* / Q000473:pathology; D012007:Rectum / Q000473:pathology; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000378:metabolism
D002116:Calcitonin