{Reference Type}: Case Reports
{Title}: Concurrent medulloblastoma and cardiac fibroma: a rare presentation of Gorlin-Goltz syndrome.
{Author}: Alanazi R;Alkhaibary A;Alfaqawwy W;AlSufiani F;Ahmad N;Aljared T;
{Journal}: Childs Nerv Syst
{Volume}: 39
{Issue}: 9
{Year}: 2023 09 9
{Factor}: 1.532
{DOI}: 10.1007/s00381-023-05970-9
{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.<BR>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.<BR>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.