Alfadhli Fatima, Alrehaili Layan, Bindekhayel Joud N, Alzamil Laila, Alrehaili Abdulrahman, Hussain Zahera
Pediatric Department, Maternity and Children Hospital, Madinah, SAU.
College of Medicine, Al Imam Mohammad Ibn Saud Islamic University, Riyadh, SAU.
Cureus. 2024 Aug 9;16(8):e66495. doi: 10.7759/cureus.66495. eCollection 2024 Aug.
This case report presents the clinical manifestation and diagnostic testing of a 12-year-old male diagnosed with systemic infantile hyalinosis (SIH) at the Maternity and Children Hospital in Madinah in 2012. The patient presented with typical SIH symptoms, including painful joint contractures, hyperpigmented knuckles, gingival hypertrophy, subcutaneous nodules, and recurrent infections. Whole exome sequencing (WES) analysis identified a homozygous mutation in the ANTXR2 gene, which is a deletion in exon 13 (c.1074delT; p.A359HfsX50), confirming the diagnosis. Notably, this patient's survival beyond the typical age expectancy of SIH, which is usually within the first few years of life, challenges the usual prognosis associated with this disease. This case emphasizes the importance of early diagnosis through clinical suspicion confirmed by genetic analysis and highlights the variability in disease presentation and prognosis.
本病例报告介绍了一名12岁男性的临床表现及诊断检测情况。该男性于2012年在麦地那妇幼医院被诊断为全身性婴儿透明变性（SIH）。患者出现典型的SIH症状，包括疼痛性关节挛缩、指关节色素沉着、牙龈肥大、皮下结节和反复感染。全外显子组测序（WES）分析在ANTXR2基因中鉴定出一个纯合突变，该突变位于外显子13，为缺失（c.1074delT；p.A359HfsX50），从而确诊。值得注意的是，该患者存活时间超过了SIH通常的预期年龄，SIH通常在生命的头几年内发病，这对该病通常的预后提出了挑战。本病例强调了通过临床怀疑并经基因分析证实进行早期诊断的重要性，并突出了疾病表现和预后的变异性。
