Acta Scientific Paediatrics (ISSN: 2581-883X)

Case Report Volume 5 Issue 6

Infantile Macrocephaly and Autism Spectrum Disorder Diagnosed with PTEN Hamartoma Tumor Syndrome: A Case Report

Liliana Sá1*, Ana Rebelo1, Ana B Ferreira1, Ana Rita Soares2, Catarina Matos de Figueiredo1, Virgínia Monteiro1 and Joana Monteiro1

1Pediatrics and Neonatology Department, Centro Hospitalar de Entre-o-Douro e Vouga, Portugal
2Medical Genetics Department, Medical Genetics Center Dr. Jacinto Magalhães, Centro Hospitalar Universitário do Porto. Portugal.

*Corresponding Author: Liliana Sá, Pediatrics and Neonatology Department, Centro Hospitalar de Entre-o-Douro e Vouga, Portugal.

Received: April 14, 2022; Published: May 26, 2022


Introduction: Loss of function of the PTEN tumor suppressor gene, due to heterozygous mutation, gives rise to a wide variety of disorders, including macrocephaly/autism syndrome, PTEN hamartoma tumor syndrome, and Cowden syndrome, characterized by high risk of developing thyroid and breast cancer at young age.

Case Report: A 2-years-old male infant with simple macrocephaly was referred to the Developmental clinic due to global developmental delay, with special impairment in speech. On physical examination, he had peculiar facies, with mild and nonspecific dysmorphia, and macrocrania with dolichocephaly. There were no stigmata of neurocutaneous disease. At the age of 5 years and 6 months, the heterozygous de novo variant c.302T > C (p- lle101Thr) in PTEN gene was identified, classified as probably pathogenic. Meanwhile, the patient was diagnosed with autism spectrum disorder with moderate developmental delay.

Discussion: The morbidity and mortality of this syndrome is associated with a higher incidence of cancers, most of them curable if early detected. The correct diagnosis, allowing the establishment of an adequate surveillance program, is therefore essential.

Keywords: Autism Spectrum Disorder; Global Development Delay; Macrocephaly; PTEN Hamartoma Tumor Syndrome; PTEN Macrocephaly/Autism Syndrome; PTEN Gene


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Citation: Liliana Sá.,et al. “Infantile Macrocephaly and Autism Spectrum Disorder Diagnosed with PTEN Hamartoma Tumor Syndrome: A Case Report”. Acta Scientific Paediatrics 5.6 (2022): 07-10.


Copyright: © 2022 Liliana Sá.,et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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