Smith-magenis综合症。阿拉伯人口中独特的新生儿表现

N. Nimeri
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摘要

Smith-Magenis综合征(SMS)是一种罕见的多系统遗传疾病,由染色体17p11.2上的RAI1杂合缺失或杂合致病变异引起。以智力缺陷、睡眠障碍、短头畸形、中脸发育不全、前凸、声音沙哑、言语迟缓伴或不伴听力损失、精神运动和生长迟缓、皮肤特征和行为问题为特征。我们报告的病例是一个足月新生儿在产前诊断为多囊性发育不良左肾和单侧脑室肿大。由于对称的IUGR和畸形特征,怀疑遗传疾病。染色体微阵列证实了史密斯-马格尼斯综合征的诊断。脑部核磁共振证实有迪迪-沃克谱畸形。腹部超声示左肾多囊性发育不良。史密斯-马格尼斯综合征通常在儿童时期被诊断出来,对其在新生儿中的表现知之甚少,特别是在阿拉伯人口中。我们的患者表现为颅内出血、癫痫发作、血小板减少、进食困难、低血糖和急性肾损伤;这一切在出院前都解决了。
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Smith–magenis syndrome. A unique neonatal presentation among the Arab population
Smith–Magenis Syndrome (SMS) is a rare multisystem genetic disorder caused by a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome 17p11.2. characterized by the variable intellectual deficit, sleep disturbance, brachycephaly, midface hypoplasia, prognathism, hoarse voice, speech delay with or without hearing loss, psychomotor and growth retardation, cutaneous features, and behaviour problems. Our reported case is a term newborn diagnosed antenatally in the feto-maternal unit to have large multi-cystic dysplastic left kidney and unilateral cerebralventriculomegaly. The genetic disorder was suspected due to symmetric IUGR and dysmorphic features. Chromosomal micro-array confirmed the diagnosis of Smith-Magenis Syndrome.MRI brain confirmed Dandy-Walker spectrum malformation. Ultrasound abdomen showed left multi-cystic dysplastic kidney. Smith-Magenis Syndrome is usually diagnosed in childhood and little is known about its presentation in neonates especially in the Arab population. Our patient presented with Intra-cranial haemorrhage, seizures, thrombocytopenia, feeding difficulty, hypoglycemia and acute kidney injury; which all resolve before discharge.
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