Ho Stephanie KL, Leung Lai Ting, Luk Ho-ming, Lo Ivan FM
Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China
Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, China
Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. Apple peel intestinal atresia, a rare form of small bowel atresia involving the proximal jejunum near the ligament of Treitz, occurs in some individuals. Intestinal atresia in individuals with Strømme syndrome can involve the duodenum, jejunum, or multiple segments.
DIAGNOSIS/TESTING: The diagnosis of Strømme syndrome is established in a proband with characteristic features and biallelic pathogenic variants identified by molecular genetic testing.
Individualized care by a multidisciplinary team; surgical treatment of gastrointestinal atresia; developmental and educational support; standard treatment for ocular anomalies, vision issues, renal anomalies, and cardiac anomalies; social work involvement and care coordination as needed. Assess growth, feeding, and development at each visit. Follow up for ophthalmologic manifestations and vision issues as recommended by ophthalmologist and low-vision clinic.
Strømme syndrome is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.
斯特勒姆综合征是一种临床症状多变的疾病，主要特征为小肠闭锁（包括苹果皮样小肠闭锁）、小头畸形、发育迟缓及/或智力残疾、脑结构异常，以及眼部、泌尿生殖系统和心脏异常。在受影响个体中观察到的临床表现高度可变，范围从中孕期致死，到涉及纤毛病相关特征的多系统受累，再到伴有发育迟缓的非综合征性小头畸形。苹果皮样小肠闭锁是小肠闭锁的一种罕见形式，累及Treitz韧带附近的近端空肠，部分个体中会出现。患有斯特勒姆综合征的个体的肠道闭锁可累及十二指肠、空肠或多个节段。
诊断/检测：斯特勒姆综合征的诊断基于先证者具有特征性表现且通过分子基因检测鉴定出双等位基因致病变异。
由多学科团队提供个体化护理；对胃肠道闭锁进行手术治疗；提供发育和教育支持；对眼部异常、视力问题、肾脏异常和心脏异常进行标准治疗；根据需要让社会工作者参与并进行护理协调。每次就诊时评估生长、喂养和发育情况。按照眼科医生和低视力诊所的建议，对眼科表现和视力问题进行随访。
斯特勒姆综合征以常染色体隐性方式遗传。如果已知父母双方均为致病变异的杂合子，受影响个体的每个同胞在受孕时有25%的几率受到影响，50%的几率为无症状携带者，25%的几率未受影响且不是携带者。一旦在受影响的家庭成员中鉴定出致病变异，就可以对有风险的亲属进行携带者检测以及进行产前/植入前基因检测。
