Sher Carron, Bistritzer Tzvi, Reisler Gad, Reish Orit
Genetic Institute, Assaf-Harofeh Medical Center Zrifin, Israel.
J Pediatr Endocrinol Metab. 2002 Jan;15(1):105-7. doi: 10.1515/jpem.2002.15.1.105.
We report a 1 year-old female patient with severe hypotonia who has congenital hypothyroidism and Prader-Willi syndrome (PWS). At birth she was found to have congenital hypothyroidism caused by an ectopic sublingual thyroid gland and was commenced on thyroid replacement therapy. She continued to have severe motor delay and therefore further diagnostic evaluation was performed. PWS was confirmed by DNA and fluorescence in situ hybridization (FISH) analysis. This report emphasizes the need to further investigate patients who are found to have congenital hypothyroidism and do not improve adequately on treatment.
我们报告了一名1岁患有严重肌张力减退的女性患者，她患有先天性甲状腺功能减退症和普拉德-威利综合征（PWS）。出生时，她被发现患有由异位舌下甲状腺引起的先天性甲状腺功能减退症，并开始接受甲状腺替代治疗。她持续存在严重的运动发育迟缓，因此进行了进一步的诊断评估。通过DNA和荧光原位杂交（FISH）分析确诊为PWS。本报告强调了对那些被发现患有先天性甲状腺功能减退症且治疗后改善不充分的患者进行进一步调查的必要性。
