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首页> 外文期刊>BMC Medical Genetics >Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report
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Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report

机译：Sjogren-Larsson综合征青少年神经变性：十年随访病例报告

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Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has yet to be reported. We describe a young woman with spastic diplegia and intellectual disability who began to show progressive neurological deterioration from 12?years of age, with the onset of dystonia and tremor. She was initially diagnosed with spastic cerebral palsy and periventricular leukomalacia based on brain magnetic resonance imaging. Follow-up brain imaging from 13?years of age did not reveal apparent changes, though abnormal electroencephalographic findings occurred in parallel with her decline in motor function. By 19?years of age, she had developed dysphagia and became completely dependent on others for most activities of daily living. Ultimately, whole-exome sequencing revealed a heterozygous compound mutation in the ALDH3A2 gene that corresponds to Sjogren-Larsson syndrome: an exon 9 deletion (1291-1292delAA) from the mother and an exon 5 splicing mutation (798?+?1delG) from the father. Neuroregression has been reported in preschool children after seizures requiring treatment, though our patient did not experience any immediate causal events. This report summarizes the clinical, radiologic, and electrophysiological findings observed over a decade concurrent with neurological deterioration after the onset of dystonia and tremor at the age of developmental ceiling in Sjogren-Larsson syndrome. In addition to the influence of additive variants or other environmental factors, accumulation of metabolites due to defective fatty aldehyde dehydrogenase is a potential pathomechanism of neurodegeneration in this patient. Neurological deterioration may be a presentation that is unnoticed in Sjogren-Larsson syndrome due to the rarity of the disease. This report highlights a unique clinical feature of Sjogren-Larsson syndrome with progressive neurodegeneration associated with dystonia and tremor.
机译：Sjogren-Larsson综合征是一种遗传性神经皮肤综合征，本质上是非进行性的。尽管在需要抗癫痫治疗的癫痫发作学龄前儿童中已有神经退缩的报道，但尚未报道青少年发作的肌张力障碍导致神经变性而没有任何直接的因果关系。我们描述了一名患有痉挛性截瘫和智力残疾的年轻妇女，从12岁开始出现肌张力障碍和震颤，开始表现出进行性神经功能恶化。根据脑磁共振成像，她最初被诊断为痉挛性脑瘫和脑室周围白细胞软化。尽管脑电图异常与运动功能下降同时发生，但13岁以后的脑部影像学检查并未发现明显变化。到19岁时，她已出现吞咽困难，并在日常生活中完全依赖他人。最终，全外显子测序揭示了ALDH3A2基因中的杂合复合突变，与Sjogren-Larsson综合征相对应：母亲的外显子9缺失（1291-1292delAA）和来自母亲的外显子5剪接突变（798？+？1delG）。父亲。据报道，癫痫发作需要治疗后，学龄前儿童发生了神经退化，尽管我们的患者没有立即发生因果事件。该报告总结了在Sjogren-Larsson综合征发育障碍的肌张力障碍和震颤发作后的十年中观察到的临床，放射学和电生理学发现，并伴有神经功能恶化。除了添加剂变体或其他环境因素的影响外，由于脂肪醛脱氢酶缺陷引起的代谢物蓄积也是该患者神经退行性变的潜在机制。由于该病的罕见性，神经系统恶化可能是Sjogren-Larsson综合征未引起注意的表现。该报告强调了Sjogren-Larsson综合征的独特临床特征，该疾病具有与肌张力障碍和震颤有关的进行性神经变性。

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