Department of Pediatrics, University Hospital Brno, Brno, Czech Republic.
Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2021 Nov;165(4):454-457. doi: 10.5507/bp.2021.027. Epub 2021 May 18.
Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms.
We present a 5 w/o female manifesting tonic-clonic seizures. Laboratory tests detected severe hypomagnesemia and hypocalcemia. The molecular genetic analysis revealed two novel mutations within the TRPM6 gene c.3308dupC (p.Pro1104Thrfs28) (p.P1104Tfs28) and c.3958C>T (p.Gln1302*) (p.Q1302*) and the patient was successfully treated with Mg supplementation.
Ion disbalance should be taken into account in the differential diagnosis of infantile seizures. Accurate diagnosis of HSH together with appropriate treatment are crucial to prevent irreversible neurological outcomes.
原发性低镁血症伴继发性低钙血症（HSH）是一种罕见的遗传性疾病。功能失调的瞬时受体电位 melastatin 6 导致肠道镁吸收受损，导致血清水平降低，同时伴有低钙血症。最初表现的典型症状是全身性癫痫发作、手足搐搦和/或肌肉痉挛。
我们介绍了一位 5 周大的女性，表现为强直阵挛性癫痫发作。实验室检测发现严重的低镁血症和低钙血症。分子遗传学分析显示 TRPM6 基因内存在两个新的突变 c.3308dupC（p.Pro1104Thrfs28）（p.P1104Tfs28）和 c.3958C>T（p.Gln1302*）（p.Q1302*），患者成功接受了镁补充治疗。
离子失衡应纳入婴儿癫痫发作的鉴别诊断。准确诊断 HSH 并进行适当治疗对于预防不可逆转的神经结局至关重要。
