Concurrent medulloblastoma and cardiac fibroma: a rare presentation of Gorlin-Goltz syndrome.
Childs Nerv Syst
; 39(9): 2499-2504, 2023 09.
Article
en En
| MEDLINE
| ID: mdl-37160435
ABSTRACT
BACKGROUND:
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. CASE PRESENTATION 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.CONCLUSION:
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.Palabras clave
Texto completo:
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Base de datos:
MEDLINE
Asunto principal:
Síndrome del Nevo Basocelular
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Neoplasias Cerebelosas
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Fibroma
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Meduloblastoma
Idioma:
En
Revista:
Childs Nerv Syst
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2023
Tipo del documento:
Article