Abstract：
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.
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.
摘要：
背景：Gorlin-Goltz综合征是一种由PTCH1基因突变引起的罕见常染色体显性疾病，临床表现多样。Gorlin-Goltz综合征中髓母细胞瘤和心脏纤维瘤的同时发生极为罕见。本文讨论了一名诊断为Gorlin-Goltz综合征并并发髓母细胞瘤和心脏纤维瘤的患者。
方法：一名19个月大的男孩在放射学发现后颅窝病变和脑积水后转移到我们医院。持续性心律失常后发现心包肿块。切除两个肿瘤以进行明确的治疗。组织病理学切片诊断为纤维增生性结节性髓母细胞瘤，WHO4级和心脏纤维瘤。分子和遗传研究证实了PTCH1基因的致病性变异，提示常染色体显性遗传Gorlin-Goltz综合征。
结论：髓母细胞瘤和心脏纤维瘤的同时发生极为罕见，并且造成了治疗上的困境。遗传咨询和产前筛查对于早期发现和管理Gorlin-Goltz综合征患者至关重要。
方法：一名19个月大的男孩在放射学发现后颅窝病变和脑积水后转移到我们医院。持续性心律失常后发现心包肿块。切除两个肿瘤以进行明确的治疗。组织病理学切片诊断为纤维增生性结节性髓母细胞瘤，WHO4级和心脏纤维瘤。分子和遗传研究证实了PTCH1基因的致病性变异，提示常染色体显性遗传Gorlin-Goltz综合征。
结论：髓母细胞瘤和心脏纤维瘤的同时发生极为罕见，并且造成了治疗上的困境。遗传咨询和产前筛查对于早期发现和管理Gorlin-Goltz综合征患者至关重要。
