Nijim Yousif, Adawi Amin, Bisharat Bishara, Bowirrat Abdalla
From the Head of Pediatric and Neonatal Department (YN); Pediatric and Neonatal Department, EMMS Nazareth-The Nazareth Hospital, Nazareth (AA); Director of EMMS Nazareth Hospital, Galilee Medical School - Bar Ilan University (BB); and Clinical Neuroscience and Population Genetics-EMMS, Nazareth Hospital, Nazareth, Israel (AB).
Medicine (Baltimore). 2016 Jan;95(3):e2362. doi: 10.1097/MD.0000000000002362.
Smith-Magenis syndrome (SMS0) is a complex and rare genetic multisystem disorder characterized by a variable pattern of cognitive deficits accompanied by a1 distinctive behavioral phenotype. SMS is characterized by subtle facial dysmorphology, short stature, sleep disturbances, and neurobehavioral abnormalities. Little is known about the manifestation of his unique case among Arab population and its strategic treatment.This study comes to present a case of SMS in an Arab newborn male who was born in spontaneous delivery on June 29, 2015, with tachypnea, tracheomalacia, and mild hypotonia. The newborn was admitted on the Neonatal Intensive Care Unit (NICU), and various laboratory examinations and clinical examinations were performed.Throughout his hospitalization, feeding difficulties appeared and thus a peripheral venous catheter was inserted in the left leg.After 22 days of follow-up and hospitalizations, the patient status improved and he was discharged with recommendations to be in follow up in pediatric outpatient clinic.However, notwithstanding the different investigations, intermittent tachypnea continued at a rate of 72 to 77 breaths/min. Search for diagnosis begin intensively owing to persistence of tachypnia, mild hypotonia, feeding difficulties, sleep disturbances, and mild dysmorphic facial features. Suspicions of genetic abnormalities were considered and blood samples were sent for chromosome analysis and for fluorescent in situ hybridization (FISH) testing.The genetic results revealed the following: cytogenetic findings: 46, XY, del(17)(p11.2) and the FISH results: del(17)(p11.2p11.2) (D17S29). The chromosome diagnosis revealed an interstitial deletion of 17p11.2 and the diagnosis of the SMS was confirmed.Accurate clinical diagnosis, therapeutic assessments and a holistic management plans, including multidiscipline therapeutic strategies, periodic neuro-developmental assessments, and an early intervention programs, are recommended.However, cytogenetic analysis or FISH using an RAI1-specific probe is the most frequently used technique for DS. Sleep and behavioral disturbances treatment include a combination of the daytime dose of acebutolol with an evening oral dose of melatonin. Melatonin as chronobiotic, antioxidant, and analgesic agent showed to be effective in different primary sleep disorders and in those associated with neurobehavioral disorders. Based on the beneficial effect of melatonin, it will be useful to use serum levels of melatonin as a follow-up test.
史密斯-马吉尼斯综合征（SMS）是一种复杂且罕见的遗传性多系统疾病，其特征为认知缺陷的可变模式，并伴有独特的行为表型。SMS的特点包括细微的面部畸形、身材矮小、睡眠障碍和神经行为异常。关于该独特病例在阿拉伯人群中的表现及其策略性治疗知之甚少。本研究旨在呈现一例阿拉伯新生儿男性的SMS病例，该患儿于2015年6月29日顺产出生，伴有呼吸急促、气管软化和轻度肌张力减退。新生儿入住新生儿重症监护病房（NICU），并进行了各种实验室检查和临床检查。在其住院期间，出现了喂养困难，因此在左腿插入了外周静脉导管。经过22天的随访和住院治疗，患者状况有所改善并出院，建议在儿科门诊进行随访。然而，尽管进行了不同的检查，间歇性呼吸急促仍以每分钟72至77次的频率持续。由于呼吸急促、轻度肌张力减退、喂养困难、睡眠障碍和轻度面部畸形特征的持续存在，开始深入寻找诊断。考虑到遗传异常的可能性，采集血样进行染色体分析和荧光原位杂交（FISH）检测。遗传结果显示如下：细胞遗传学结果：46, XY, del(17)(p11.2)，FISH结果：del(17)(p11.2p11.2) (D17S29)。染色体诊断显示17p11.2存在间质性缺失，SMS诊断得以证实。建议进行准确的临床诊断、治疗评估和全面的管理计划，包括多学科治疗策略、定期神经发育评估和早期干预项目。然而，使用RAI1特异性探针进行细胞遗传学分析或FISH是诊断SMS最常用的技术。睡眠和行为障碍的治疗包括白天服用醋丁洛尔剂量与晚上口服褪黑素相结合。褪黑素作为一种生物钟调节剂、抗氧化剂和镇痛剂，在不同的原发性睡眠障碍以及与神经行为障碍相关的睡眠障碍中显示出有效性。基于褪黑素的有益作用，将血清褪黑素水平用作随访检测将是有用的。
