Multifocal desmoplastic medulloblastoma in an African-American child with nevoid basal cell carcinoma (Gorlin) syndrome: Case report

Philip S. Smucker, Jodi Smith

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The authors present the case of a 2.5-year-old African-American boy with desmoplastic medulloblastoma (MB) and nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, an autosomal dominant disorder resulting from mutations in the patched (PTCH) gene that predisposes to neoplasias (including basal cell carcinomas [BCCs] and MB) and to widespread congenital malformations. The diagnosis of NBCCS was suspected based on the clinical examination, patient and family medical histories, and histopathological characteristics of the tumor. Radiotherapy was withheld. The diagnosis of NBCCS was confirmed by DNA testing, which revealed a novel mutation in the PTCH gene. This is the first report of an African-American child with MB diagnosed with NBCCS prior to radiotherapy. Although only a small number of patients with MB have NBCCS, the diagnosis must be considered because radiotherapy in such patients can lead to the formation of BCCs and other intracranial neoplasms within the irradiated field. This case emphasizes the importance of obtaining thorough family and patient medical histories and of carefully examining the patient and close relatives for signs of NBCCS to avoid the potentially devastating consequences of missing this diagnosis.

Original languageEnglish
Pages (from-to)315-320
Number of pages6
JournalJournal of Neurosurgery
Volume105 PEDIATRICS
Issue numberSUPPL. 4
DOIs
StatePublished - Oct 2006

Fingerprint

Basal Cell Nevus Syndrome
Medulloblastoma
African Americans
Medical History Taking
Radiotherapy
Basal Cell Carcinoma
Mutation
Brain Neoplasms
Genes
Neoplasms
DNA

Keywords

  • Desmoplastic medulloblastoma
  • Gorlin syndrome
  • Nevoid basal cell carcinoma syndrome
  • Pediatric neurosurgery
  • PTCH
  • Sonic hedgehog protein

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Multifocal desmoplastic medulloblastoma in an African-American child with nevoid basal cell carcinoma (Gorlin) syndrome : Case report. / Smucker, Philip S.; Smith, Jodi.

In: Journal of Neurosurgery, Vol. 105 PEDIATRICS, No. SUPPL. 4, 10.2006, p. 315-320.

Research output: Contribution to journalArticle

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