Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?

Plamper, Michaela; Born, Mark; Gohlke, Bettina; Schreiner, Felix; Schulte, Sandra; Splittstößer, Vera; Woelfle, Joachim

doi:10.3390/cells9071668

Open AccessArticle

Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?

by

Michaela Plamper

^1,*,†,

Mark Born

^2,†

,

Bettina Gohlke

¹

,

Felix Schreiner

¹,

Sandra Schulte

¹,

Vera Splittstößer

¹ and

Joachim Woelfle

^1,3

¹

Children’s Hospital, Department of Pediatric Endocrinology and Diabetology, University of Bonn, Venusberg-Campus 1, 53127 Bonn, Germany

²

Department of Radiology, Pediatric Radiology, University Hospital Bonn, Venusberg-Campus 1, 53127 Bonn, Germany

³

Children’s Hospital, University of Erlangen, Loschgestrasse 115, 91054 Erlangen, Germany

^*

Author to whom correspondence should be addressed.

^†

These authors contributed equal to this work.

Cells 2020, 9(7), 1668; https://doi.org/10.3390/cells9071668

Submission received: 13 June 2020 / Revised: 6 July 2020 / Accepted: 8 July 2020 / Published: 10 July 2020

(This article belongs to the Special Issue The PTEN Tumor Suppressor and Its Role in Tumor Pathogenesis)

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Abstract

Background: PTEN Hamartoma Tumor Syndrome (PHTS) is caused by germline autosomal-dominant mutations of the tumor suppressor gene PTEN. Subjects harbour an increased risk for tumor development, with thyroid carcinoma occurring in young children. Establishing a diagnosis is challenging, since not all children fulfill diagnostic criteria established for adults. Macrocephaly is a common feature in childhood, with cerebral MRI being part of its diagnostic workup. We asked whether distinct cMRI features might facilitate an earlier diagnosis. Methods: We retrospectively studied radiological and clinical data of pediatric patients who were presented in our hospital between 2013 and 2019 in whom PTEN gene mutations were identified. Results: We included 27 pediatric patients (18 male) in the analysis. All patients were macrocephalic. Of these, 19 patients had received at least one cMRI scan. In 18 subjects variations were detected: enlarged perivascular spaces (EPVS; in 18), white matter abnormalities (in seven) and less frequently additional pathologies. Intellectual ability was variable. Most patients exhibited developmental delay in motor skills, but normal intelligence. Conclusion: cMRI elucidates EPVS and white matter abnormalities in a high prevalence in children with PHTS and might therefore aid as a diagnostic feature to establish an earlier diagnosis of PHTS in childhood.

Keywords: PTEN; PHTS; children; cMRI; enlarged perivascular spaces; Virchow–Robin spaces; white matter abnormalities; macrocephaly

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MDPI and ACS Style

Plamper, M.; Born, M.; Gohlke, B.; Schreiner, F.; Schulte, S.; Splittstößer, V.; Woelfle, J. Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children? Cells 2020, 9, 1668. https://doi.org/10.3390/cells9071668

AMA Style

Plamper M, Born M, Gohlke B, Schreiner F, Schulte S, Splittstößer V, Woelfle J. Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children? Cells. 2020; 9(7):1668. https://doi.org/10.3390/cells9071668

Chicago/Turabian Style

Plamper, Michaela, Mark Born, Bettina Gohlke, Felix Schreiner, Sandra Schulte, Vera Splittstößer, and Joachim Woelfle. 2020. "Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?" Cells 9, no. 7: 1668. https://doi.org/10.3390/cells9071668

APA Style

Plamper, M., Born, M., Gohlke, B., Schreiner, F., Schulte, S., Splittstößer, V., & Woelfle, J. (2020). Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children? Cells, 9(7), 1668. https://doi.org/10.3390/cells9071668

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Cerebral MRI and Clinical Findings in Children with PTEN Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?

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