Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature

Lucia De Martino; Carmela Russo; Delfina Bifano; Lucia Quaglietta; Pietro Spennato; Giuseppe Cinalli

doi:10.1007/s00381-024-06426-4

Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature

Childs Nerv Syst. 2024 Aug;40(8):2619-2623. doi: 10.1007/s00381-024-06426-4. Epub 2024 Apr 30.

Authors

Lucia De Martino¹, Carmela Russo², Delfina Bifano³, Lucia Quaglietta⁴, Pietro Spennato⁵, Giuseppe Cinalli⁵

Affiliations

¹ Neurooncology Unit, Department of Pediatric Oncology, Santobono-Pausilipon Children's Hospital, Naples, Italy. [email protected].
² Neuroradiology Unit, Department of Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
³ Patology Unit, Department of Pathology, Santobono-Pausilipon Children's Hospital, Naples, Italy.
⁴ Neurooncology Unit, Department of Pediatric Oncology, Santobono-Pausilipon Children's Hospital, Naples, Italy.
⁵ Pediatric Neurosurgery Unit, Department of Pediatric Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.

PMID: 38689102
DOI: 10.1007/s00381-024-06426-4

Abstract

Pallister-Killian syndrome (PKS; OMIM #601803) is a rare genetic disorder typically characterized by developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Here, we report a 27-month-old girl with a prenatal diagnosis of PKS and a histopathological diagnosis of pineocytoma.

Keywords: Brain tumors; Genetic; Pallister–Killian syndrome; Pineocytoma.

Publication types

Case Reports
Review

MeSH terms

Child, Preschool
Chromosome Disorders* / genetics
Chromosomes, Human, Pair 12 / genetics
Female
Humans
Pineal Gland / diagnostic imaging
Pineal Gland / pathology
Pinealoma* / diagnostic imaging
Pinealoma* / genetics

Supplementary concepts

Pallister Killian syndrome