Solitary thyroid nodule as presenting symptom of XXXX caused by a novel splice-site mutation in intron 8 of the @entity6361 gene.

@entity1 @entity1375 @entity5 @entity18260 @entity1955 @entity72698 @entity600 @entity15902 @entity1274 @entity6361
Thyroid nodules are a rare occurrence in @entity1 but represent an important clinical problem because of the possibility of @entity5 . We report the case of a 4-year-old @entity1 with @entity1274 , who presented with a painless mass in the right anterior cervical region. Cervical ultrasound demonstrated a solid nodule (1.4 x 2.5 x 1.7 cm) in the right thyroid lobe. Thyroid function tests revealed @entity1375 (free T4 1.0 ng/dl; TSH 57 mIU/l) with no detectable thyroid antibodies. A 99mTc thyroid scan showed a generalised slightly increased tracer retention (4.6%) with an enlarged right lobe, without distinct nodules. A fine-needle aspiration biopsy revealed normal follicular cells. The @entity1 was treated with @entity1955 which resulted in a complete clinical and sonographical disappearance of the nodule. A CT scan of temporal bones revealed a bilaterally @entity15902 with Mondini @entity600 . The combination of all these symptoms suggested the diagnosis of @entity18260 ( @entity18260 ), a disorder characterised by congenital @entity1274 and a variable degree of thyromegaly due to mutations in the @entity6361 /PDSgene. DNA analysis disclosed a so far unreported homozygous splice site mutation ( @entity72698 ) in intron 8 of the @entity6361 gene confirming this diagnosis. CONCLUSION: a solitary thyroid nodule may therefore be another presenting symptom of thyroid involvement in @entity18260
