Papavasiliou Antigone, Foska Katerina, Ioannou John, Nagel Mato
Department of Pediatric Neurology, Pendeli Children's Hospital, Athens, Greece.
Laboratory for Molecular Diagnostics, Weisswasser, Germany.
SAGE Open Med Case Rep. 2017 Jul 27;5:2050313X17723549. doi: 10.1177/2050313X17723549. eCollection 2017.
Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families.
A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual disability and epilepsy, imitating cerebral palsy, presented with additional findings of renal tubulopathy, sensorineural deafness and normal neuroimaging leading to the diagnosis of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. The patient was heterozygous for two mutations: a missense mutation (p.R65C) that is already published and a not yet published duplication (p.F119GfsX25) that creates a premature truncation of the protein. Both mutations are likely damaging. Parental testing has not been performed, and therefore, we do not know for certain whether the mutations are on different alleles. This young man presents some clinical and laboratory features that differ from previously reported patients with epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
The necessity of accurate diagnosis through genetic testing in patients with static motor disorders resembling cerebral palsy phenotypes, atypical clinical features and noncontributory neuroimaging is emphasized.
癫痫、共济失调、感音神经性耳聋、肾小管病综合征是一种多器官疾病，与编码Kir4.1钾通道的基因中的常染色体隐性突变有关。该病多见于近亲结婚的非欧洲家庭。
一名非近亲出生的欧洲男性，患有早发性、静止性共济失调运动障碍、智力残疾和癫痫，临床表现类似脑瘫，还伴有肾小管病、感音神经性耳聋，神经影像学检查正常，最终诊断为癫痫、共济失调、感音神经性耳聋、肾小管病综合征。该患者两个基因发生杂合突变：一个是已发表的错义突变（p.R65C），另一个是尚未发表的重复突变（p.F119GfsX25），该突变导致蛋白质过早截短。这两个突变可能具有损害性。未对其父母进行检测，因此，我们无法确定这两个突变是否位于不同的等位基因上。该青年男性的一些临床和实验室特征与先前报道的癫痫、共济失调、感音神经性耳聋、肾小管病综合征患者有所不同。
强调对于表现出类似脑瘫表型的静止性运动障碍、非典型临床特征且神经影像学检查无异常的患者，通过基因检测进行准确诊断的必要性。
