A 10-YEAR-OLD GIRL underwent reduction cheiloplasty and excision of tongue nodules. The development of progressively patulous lips and thickening of the tongue began at age 6 years. Following surgery, a right neck mass was discovered. Thyroid scan revealed an enlarged gland with a cold area in the upper two thirds of the right lobe. A right thyroidectomy was performed. Her medical history included abdominal distension and the onset of severe constipation at age 4 years, which responded to medical treatment. On physical examination thick lips and an enlarged, nodular tongue were present (Figure 1 and Figure 2). A firm, visibly enlarged goiter was palpable in the left thyroid gland. An ultrasound study demonstrated an enlarged left lobe of the thyroid with 2 hypoechoic nodules and bilateral, enlarged cervical lymph nodes. Her serum calcitonin level was 299 pmol/L (reference, <26.6 pmol/L). A total thyroidectomy was performed with modified radical neck dissection. Pathologic interpretation of the removed tissue revealed medullary thyroid carcinoma (MTC) with metastases to the cervical lymph nodes. A review of the tongue biopsy specimen was consistent with mucosal neuromas. DNA sequencing analysis of exon 16 of the RET proto-oncogene from peripheral blood cells showed a germline M918T mutation (Figure 3).
Thank you for submitting a comment on this article. It will be reviewed by JAMA Pediatrics editors. You will be notified when your comment has been published. Comments should not exceed 500 words of text and 10 references.
Do not submit personal medical questions or information that could identify a specific patient, questions about a particular case, or general inquiries to an author. Only content that has not been published, posted, or submitted elsewhere should be submitted. By submitting this Comment, you and any coauthors transfer copyright to the journal if your Comment is posted.
* = Required Field
Disclosure of Any Conflicts of Interest*
Indicate all relevant conflicts of interest of each author below, including all relevant financial interests, activities, and relationships within the past 3 years including, but not limited to, employment, affiliation, grants or funding, consultancies, honoraria or payment, speakers’ bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued. If all authors have none, check "No potential conflicts or relevant financial interests" in the box below. Please also indicate any funding received in support of this work. The information will be posted with your response.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 3
Customize your page view by dragging & repositioning the boxes below.
The Rational Clinical Examination
Evidence Summary and Review 2
The Rational Clinical Examination
Location of Paracentesis and Ultrasound Guidance
All results at
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.