Uma causa muito rara de espasmos infantis

Margarida Silva Fonseca, Clara Vieira, R. Chorão, A. Bandeira, Inês Carrilho
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Abstract

Psychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky hair disease diagnosis. The typical electroclinical evolution in this syndrome has rarely been previously reported.A 22-month-old boy, born at 35 weeks, was admitted to the hospital by the age of two months due to epileptic seizures. Physical examination revealed dysmorphic facial features, pectus excavatum, and inguinal hernias. Antiepileptic drugs were initiated and one month later the patient was readmitted with recurrent epileptic seizures. Transfer to a hospital with Pediatric Neurology support was required, where light-toned and pleated skin, sparse hair, failure to thrive, and axial hypotonia were remarked. Initial investigation with general metabolic, neuroimaging, ophthalmological, and microarray study revealed no changes. Electroencephalograms were markedly abnormal, initially with focal changes and later with hypsarrhythmia. Considering the patient’s phenotype, copper serum level was analysed, with null value. Molecular study confirmed Menkes kinky hair disease and copper histidine therapy was initiated. Menkes kinky hair disease should be considered in infants with global developmental delay, severe hypotonia, refractory epilepsy, and typical hair and skin changes occurring early in life. However, neonatal diagnosis is hampered by age-unspecific signs and symptoms. Despite being a rare and fatal entity, timely diagnosis allowing early therapy institution and avoiding unnecessary additional tests and prompt genetic counseling are of utmost importance.
儿童痉挛的罕见原因
与癫痫相关的精神运动发育倒退或延迟是一个诊断挑战。诊断方法应考虑年龄组、癫痫综合征、身体和神经数据以及器官和/或系统的参与。本文报道了一个幼儿的病例,其头发发育、癫痫发作的演变和脑电图检查结果是诊断Menkes扭结性头发病的关键。该综合征的典型临床电进化以前很少报道。一名22个月大的男孩,出生35周,在两个月大时因癫痫发作入院。体格检查显示面部畸形、漏斗胸和腹股沟疝。开始服用抗癫痫药物,一个月后,患者因反复癫痫发作再次入院。需要转移到有儿科神经病学支持的医院,在那里观察到浅色和褶皱的皮肤、稀疏的头发、发育不良和轴性肌张力减退。对一般代谢、神经影像学、眼科和微阵列研究的初步调查显示没有变化。脑电图明显异常,最初有局灶性改变,后来有节律性睡眠不足。考虑到患者的表型,对铜血清水平进行了分析,结果为零。分子研究证实了Menkes扭结性毛发病和组氨酸铜疗法的启动。患有全面发育迟缓、严重肌张力减退、难治性癫痫以及早期发生的典型头发和皮肤变化的婴儿应考虑患有Menkes扭结性头发病。然而,新生儿的诊断受到年龄不明确的体征和症状的阻碍。尽管这是一种罕见且致命的实体,但及时诊断、允许早期治疗机构、避免不必要的额外检测和及时的基因咨询至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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