A Stepwise Approach to Macrocephaly: Clinical Clues to the Rare Diagnosis of PTEN Hamartoma Tumor Syndrome

Authors

• Nidhi A. Gupta, Division of Medical Genetics, Northwell Health Physician Partners, Great Neck, New York.
• Natasha Shur, Division of Genetics and Metabolism, Children's National Hospital.
• Seth I. Berger, Division of Genetics and Metabolism, Children's National Hospital.

Document Type

Journal Article

Publication Date

4-1-2026

Journal

Pediatric annals

Volume

55

Issue

4

DOI

10.3928/19382359-20260309-02

Abstract

Macrocephaly, defined as a large head size, has a very broad differential and sometimes can be challenging to differentiate as benign versus indicative of pathology. In this review, we outline a stepwise approach to improving diagnosis of neurogenetic disorders versus other causes using the example of PTEN (phosphatase and TENsin homolog) Hamartoma Tumor Syndrome (PHTS). PHTS is a multiple hamartoma syndrome with medical management implications including the need for tumor surveillance, but often cases are not diagnosed until later in adulthood. Our review emphasizes the utility of using head circumference z scores in combination with other features as a triage tool for genetic identification of disorders such as PHTS.

APA Citation

Gupta, Nidhi A.; Shur, Natasha; and Berger, Seth I., "A Stepwise Approach to Macrocephaly: Clinical Clues to the Rare Diagnosis of PTEN Hamartoma Tumor Syndrome" (2026). GW Authored Works. Paper 9146.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/9146

Department

Pediatrics