Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy
Arch. endocrinol. metab. (Online)
;
63(1): 79-83, Jan.-Feb. 2019. tab, graf
Article
in English
| LILACS
| ID: biblio-989300
ABSTRACT
SUMMARY Thyroid carcinoma (TC) is rare in children, particularly in those aged < 10 years. Several studies have demonstrated a correlation between neoplasms and hyperinsulinemia and insulin resistance, which are often associated with a higher risk for and/or aggressiveness of the neoplasm. Congenital generalized lipodystrophy (CGL) with autosomal recessive inheritance is a rare disease and is characterized by the lack of adipose tissue, severe insulin resistance, and early metabolic disturbances. Here, we reported a rare case of a type 2 CGL in a girl who presented with a papillary TC (PTC) at the age of 7 years. She had no family history of TC or previous exposure to ionizing radiation. She had a generalized lack of subcutaneous fat, including the palmar and plantar regions, muscle hypertrophy, intense acanthosis nigricans, hepatomegaly, hypertriglyceridemia, severe insulin resistance, and hypoleptinemia. A genetic analysis revealed a mutation in the BSCL2 gene (p.Thr109Asnfs* 5). Ultrasound revealed a hypoechoic solid nodule measuring 1.8 × 1.0 × 1.0 cm, and fine needle aspiration biopsy suggested malignancy. Total thyroidectomy was performed, and a histopathological examination confirmed PTC with vascular invasion and parathyroid lymph node metastasis (pT3N1Mx stage). This is the first report to describe a case of differentiated TC in a child with CGL. Severe insulin resistance that is generally observed in patients with CGL early in life, especially in those with type 2 CGL, may be associated with this uncommon presentation of aggressive PTC during childhood.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Thyroid Neoplasms
/
Lipodystrophy, Congenital Generalized
/
Thyroid Cancer, Papillary
Type of study:
Diagnostic study
Limits:
Child
/
Female
/
Humans
Language:
English
Journal:
Arch. endocrinol. metab. (Online)
Journal subject:
Endocrinology
/
Metabolism
Year:
2019
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal do Ceará/BR
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