College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Ar Rimayah, 14611, Riyadh, SA, 11426, Saudi Arabia.
King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
Childs Nerv Syst. 2023 Sep;39(9):2499-2504. doi: 10.1007/s00381-023-05970-9. Epub 2023 May 9.
Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of medulloblastoma and cardiac fibroma in Gorlin-Goltz syndrome is extremely rare. The present article discusses a patient diagnosed with Gorlin-Goltz syndrome and concurrent medulloblastoma and cardiac fibroma.
A 19-month-old boy transferred to our hospital after a radiological finding of posterior fossa lesion and hydrocephalus. A pericardial mass was noted after persistent arrhythmias. Both tumors were excised for definitive management. The histopathological sections were diagnostic of desmoplastic nodular medulloblastoma, WHO grade 4 and cardiac fibroma. Molecular and genetic investigations confirmed a pathogenic variant of PTCH1 gene, suggestive of autosomal dominant Gorlin-Goltz syndrome.
Co-occurrence of medulloblastoma and cardiac fibroma is extremely rare and poses a management dilemma. Genetic counseling and antenatal screening are of utmost importance to early detect and manage patients with Gorlin-Goltz syndrome.
基底细胞痣综合征是一种罕见的常染色体显性遗传疾病，由 PTCH1 基因突变引起，具有多种临床表现。基底细胞痣综合征同时并发髓母细胞瘤和心脏纤维瘤极为罕见。本文讨论了一名诊断为基底细胞痣综合征并同时并发髓母细胞瘤和心脏纤维瘤的患者。
一名 19 个月大的男孩，因后颅窝病变和脑积水的影像学发现而转入我院。持续心律失常后发现心包肿块。为明确诊断，均行肿瘤切除术。组织病理学切片诊断为弥漫性结节性髓母细胞瘤，WHO 分级 4 级和心脏纤维瘤。分子和遗传学研究证实存在 PTCH1 基因突变，提示常染色体显性遗传基底细胞痣综合征。
髓母细胞瘤和心脏纤维瘤同时并发极为罕见，给治疗带来了困境。遗传咨询和产前筛查对于早期发现和管理基底细胞痣综合征患者至关重要。
