Kleine-Levin综合征(KLS)是一种罕见且使人衰弱的疾病,表现为周期性嗜睡,认知,精神和行为障碍。在缺乏生物标志物的情况下,可能难以诊断。已经描述了一个家族和七个KLS零星病例中的罕见LMOD3变体。在这里,我们报告了一个病人和她的家人,家族性,对存在LMOD3基因变异的嗜睡症(CDH)进行了评估。
该女性患者从成年早期开始出现反复发作的嗜睡症。在20多年的随访中,特发性睡眠过度的诊断,进行了与精神病有关的KLS和过度睡眠。家族史对周期性嗜睡和精神疾病呈阳性。病人,有症状的母亲和无症状的姐妹在LMOD3基因的552密码子携带脯氨酸替代组氨酸.先前在两名散发性KLS患者中报道了这种变异,其在普通人群中的频率低于0.02%。
我们报道了一名非典型KLS和阳性家族史患者的周期性睡眠过度与LMOD3基因多态性的相关性。需要进一步的研究来评估KLS中LMOD3变体的病理和预测价值。
Kleine-Levin syndrome (KLS) is a rare and debilitating disorder presenting with periodic hypersomnolence, cognitive, psychiatric and behavioral disturbances. In the absence of biomarkers it can be difficult to diagnose. Rare
LMOD3 variants in a family and in seven sporadic cases with KLS have been described. Here we report a patient and her family with an unclassified, familial, periodic central disorder of hypersomnolence (CDH) in whom the presence of a
LMOD3 gene variant was assessed.
The female patient presented since early adulthood with recurrent episodes of hypersomnolence. Over more than 20 years of follow-up the diagnoses of idiopathic hypersomnia, KLS and hypersomnia associated with a psychiatric condition were made. The family history is positive for periodic hypersomnolence and psychiatric conditions. The patient, her symptomatic mother and her asymptomatic sister carried a Proline for Histidine substitution at codon 552 of the
LMOD3-gene. This variant was previously reported in two sporadic KLS patients and its frequency in the general population is below 0.02%.
We report the association of periodic hypersomnia with a polymorphism of the
LMOD3-gene in a patient with atypical KLS and a positive family history. Further research is needed to assess the pathological and predictive value of
LMOD3 variants in KLS.