Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2019, Article ID 6845836, 4 pages
https://doi.org/10.1155/2019/6845836
Case Report

Pallister-Hall Syndrome Presenting in Adolescence

1Rutgers-Robert Wood Johnson Medical School, 675 Hoes Lane, Piscataway Township, NJ 08854, USA
2Division of Pediatric Hematology and Oncology, Rutgers-Robert Wood Johnson Medical School, Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08901, USA
3Department of Neurosurgery, Rutgers-Robert Wood Johnson Medical School, Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08901, USA
4Division of Pediatric Endocrinology, Rutgers-Robert Wood Johnson Medical School, 89 French Street 2nd Floor, New Brunswick, NJ 08901, USA

Correspondence should be addressed to Ian Marshall; ude.sregtur.smjwr@aiahsram

Received 7 November 2018; Accepted 20 January 2019; Published 18 March 2019

Academic Editor: Mohnish Suri

Copyright © 2019 Aria Mahtabfar et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant inheritance due to GLI3 gene mutations classically characterized by the presence of a hypothalamic hamartoma and polydactyly. Additional diagnostic criteria include bifid epiglottis, imperforate anus, small nails, hypopituitarism, growth hormone deficiency, and genital hypoplasia. It is typically diagnosed in infancy and early childhood, presenting with seizures and/or precocious puberty due to the hypothalamic hamartoma, and with limb anomalies due to central polydactyly. Our patient had presented with polysyndactyly at birth. However, as this is not uncommon in infants and is usually as part of the sporadic, isolated form of polydactyly, no further work up was done. He then presented at age 16 years with a headache and subjective visual changes, with brain imaging revealing a hypothalamic hamartoma. He did not have a history of seizures or central precocious puberty. Genotyping revealed a pathogenic variant affecting the GLI3 gene. We encourage all clinicians to consider PHS or an associated syndrome with a clinical finding of polydactyly. Further, as the natural history continues to reveal itself, this patient’s presentation provides important new data to the broad phenotypic spectrum of PHS.