脑-肺-甲状腺综合征:盐酸哌甲酯治疗下的临床反应

Barbara Bianchi, C. Gil, L. Vagnini, J. Fonseca
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摘要

简介:“脑-肺-甲状腺综合征”是由编码甲状腺转录因子1的NKX2-1基因突变引起的,其临床表现多种多样:舞蹈症、呼吸系统疾病和甲状腺功能减退。病例报告:男性患者,10岁,非近亲父母的儿子,正在治疗亚临床甲状腺功能减退与左甲状腺素,在4岁时被转介调查低张力。没有出生时出现呼吸问题的报告。张力过低(中枢和神经肌肉)的检查包括肌肉活检均正常。肌张力过低有进行性改善,但患者出现舞蹈动作。鉴于这一新的临床发现,我们针对NKX2-1基因进行了遗传分子研究,确认了“脑-肺-甲状腺综合征”的诊断。患者开始使用盐酸哌甲酯治疗,舞蹈动作明显改善。讨论:与NKX2-1基因相关的表现可能包括遗传性良性舞蹈病(HBC)、先天性甲状腺功能减退症和新生儿呼吸系统疾病。一般来说,舞蹈病开始于儿童早期,在患者生命的第一年(最常见),在童年后期甚至青春期,并发展到第二个十年,之后保持静止或(很少)消退。最近,在该基因突变的患者中使用哌醋甲酯被证明是一种可能的治疗方法,可以控制这种罕见疾病患者的舞蹈运动和改善运动协调。
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Brain-lung-thyroid syndrome: clinical response under methylphenidate hydrochloride therapy
INTRODUCTION: The “brain-lung-thyroid syndrome” is caused by mutations in the NKX2-1 gene, which encodes the thyroid transcription factor 1, and is characterized by widely diverse clinical manifestations: choreic movements, respiratory disorders and hypothyroidism. CASE REPORT: Male patient, 10 years old, son of non-consanguineous parents, being treated for subclinical hypothyroidism with levothyroxine, was referred at 4 years of age for investigation of hypotonia. There were no reports of breathing problems at birth. Investigation for hypotonia (central and neuromuscular) including muscle biopsy was normal. There was a progressive improvement in hypotonia, but the patient developed choreic movements. In view of the new clinical finding, a genetic-molecular study was carried out directed towards the NKX2-1 gene, confirming the diagnosis of “brain-lung-thyroid syndrome”. The patient started treatment with methylphenidate hydrochloride with evident improvement in choreic movements. DISCUSSION: Manifestations related to the NKX2-1 gene may include hereditary benign chorea (HBC), congenital hypothyroidism and neonatal respiratory disorders. Generally, chorea begins in early childhood, in the patient’s first year of life (most common), in later childhood or even adolescence, and progresses into the second decade after which it remains static or (rarely) resolves. Recently, the use of methylphenidate in patients with a mutation in this gene proved to be a possible therapeutic approach to control choreic movements and improve motor coordination in patients affected by this rare disease.
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