University Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
University Children's Hospital, Unit of Special Laboratory Diagnostics, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Front Endocrinol (Lausanne). 2021 Jun 15;12:581134. doi: 10.3389/fendo.2021.581134. eCollection 2021.
A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive cone-rod type retinal dystrophy diagnosed at the age of four months that progressed in the 1 decade of life. Severe obesity, insulin resistance with hyperinsulinism, and impaired glucose tolerance developed alongside other components of the metabolic syndrome - dyslipidemia, arterial hypertension, and obstructive hypopnea in sleep. At the age of 14 years, primary amenorrhea persists. The patient is managed by regular nutritional advice, metformin, antihypertensive medication, and non-invasive respiratory support during sleep. Differential diagnosis of this rare entity is discussed in extend.
一位父母为近亲的白种女孩，表现为早发严重肥胖和视网膜营养不良。基因中一个新的纯合基因截断变异（c.1897C>T），证实了 MORMS（OMIM #610156）的诊断。在本综合征中发现的一个新的临床特征是进行性的 Cone-Rod 型视网膜营养不良，在四个月大时被诊断出来，并在生命的十年中进展。严重肥胖、伴有高胰岛素血症的胰岛素抵抗和葡萄糖耐量受损，与代谢综合征的其他成分一起发展，包括血脂异常、动脉高血压和睡眠中的阻塞性低通气。14 岁时，原发性闭经持续存在。该患者通过定期营养建议、二甲双胍、降压药物和睡眠期间的无创呼吸支持进行治疗。对这一罕见疾病进行了详细的鉴别诊断。
