Smółka Katarzyna, Perenc Lidia, Pelc Joanna, Smółka Leon, Szajnik Konrad
Department of Child Neurology and Pediatrics, Clinical Regional Hospital No2, 35-301 Rzeszów, Poland.
Institute of Health Sciences, University of Rzeszów, 35-959 Rzeszów, Poland.
J Clin Med. 2024 Oct 17;13(20):6180. doi: 10.3390/jcm13206180.
Myopathies encompass a wide range of diseases with diverse etiologies, courses, and prognoses, and can be either genetic or acquired in nature. One of the rare causes of acquired myopathies in children is hyperthyroidism. Ocular manifestations of hyperthyroidism include proptosis (exophthalmos) and widening of the palpebral fissure. Conversely, ptosis may indicate co-existing myasthenia or primary or secondary myopathy. : This study presents a case of a 2-year-old child exhibiting both ocular disorders-each in one eye-along with features of proximal myopathy associated with undiagnosed thyrotoxicosis. To our knowledge, this unique presentation of thyrotoxicosis in a young child has not been previously reported. After appropriate treatment for thyrotoxicosis, the child's ocular and muscular symptoms showed improvement. : Given that thyroid disorders can be a rare cause of both myopathy and ocular disorders in children, it is recommended that any child presenting with such symptoms undergo thyroid function screening tests.
肌病涵盖了病因、病程和预后各不相同的多种疾病，其本质上既可以是遗传性的，也可以是后天获得性的。儿童后天性肌病的罕见病因之一是甲状腺功能亢进。甲状腺功能亢进的眼部表现包括眼球突出（突眼）和睑裂增宽。相反，上睑下垂可能提示并存重症肌无力或原发性或继发性肌病。本研究报告了一例2岁儿童，其双眼分别出现这两种眼部疾病，同时伴有与未确诊的甲状腺毒症相关的近端肌病特征。据我们所知，幼儿甲状腺毒症的这种独特表现此前尚未见报道。在对甲状腺毒症进行适当治疗后，患儿的眼部和肌肉症状有所改善。鉴于甲状腺疾病可能是儿童肌病和眼部疾病的罕见病因，建议任何出现此类症状的儿童都要接受甲状腺功能筛查测试。
