Laalaoua Yousra, Bentebbaa Fatimzahra, Assarrar Imane, Bouichrat Nisrine, Rouf Siham, Latrech Hanane
Department of Endocrinology-Diabetology and Nutrition, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco.
Laboratory of Epidemiology, Clinical Research and Public Health, Faculty of Medicine and Pharmacy, University of Mohammed First, Oujda, Morocco.
Pediatr Endocrinol Diabetes Metab. 2025;31(1):35-40. doi: 10.5114/pedm.2025.148399.
Ring chromosome 18 is a rare chromosomal disorder, and its association with Prader-Willi syndrome (PWS) is an extremely unusual condition. We described the clinical and biological profile of this association and highlighted the management of this case through GH therapy. To the best of our knowledge, this is the first reported association in the literature.
This report discusses a case of a 9-year-old child diagnosed with both PWS and ring 18 syndrome at the age of 3 years. The diagnosis of Prader-Willi syndrome with ring chromosome 18 was established using CGH ARRAY technique. It showed the absence of expression of paternal chromosome 15 in the 15q11-q13 region, and a karyotype showing ring chromosome 18 according to the formula: 46. XX (37)/46. XX r(18) (p11.3 ;q23) (27).
Our case contributes to a better understanding of the clinical presentation of complex aberrations of chromosome 18 and that of PWS. The main common clinical features of this association were a moderate dysmorphic syndrome, hypotonia, grade II obesity with severe OSA, mild cognitive deficit with learning difficulties, and a discreet scoliosis. Diagnosis and management of this complex disorder require a multidisciplinary approach. The primary focus for those patients is to enhance their quality of life and prevent any potential complications.
18号环状染色体是一种罕见的染色体疾病，其与普拉德-威利综合征（PWS）的关联极为罕见。我们描述了这种关联的临床和生物学特征，并强调了通过生长激素（GH）治疗对该病例的管理。据我们所知，这是文献中首次报道的关联。
本报告讨论了一名9岁儿童的病例，该儿童在3岁时被诊断为患有PWS和18号环状染色体综合征。采用比较基因组杂交阵列（CGH ARRAY）技术确诊为伴有18号环状染色体的普拉德-威利综合征。结果显示15号染色体父源在15q11-q13区域无表达，核型显示环状18号染色体，核型公式为：46,XX(37)/46,XX r(18)(p11.3;q23)(27)。
我们的病例有助于更好地理解18号染色体复杂畸变以及PWS的临床表现。这种关联的主要常见临床特征为中度畸形综合征、肌张力低下、伴有严重阻塞性睡眠呼吸暂停（OSA）的II级肥胖、伴有学习困难的轻度认知缺陷以及轻度脊柱侧弯。诊断和管理这种复杂疾病需要多学科方法。这些患者的主要关注点是提高他们的生活质量并预防任何潜在并发症。
