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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Adeline Vanderver1, Davide Tonduti, Ilana Kahn
1Department of Neurology, Children's National Medical Center, Washington, District of Columbia.
Abstract:
We describe an MRI phenotype seen in a series of patients with mutations in PTEN who have clinical features consistent with PTEN hamartoma tumor syndrome (PHTS). Retrospective review of clinical data and MRI was performed in 23 subjects evaluated in four different tertiary care centers with clinical programs in inherited disorders of the white matter. Patients were referred due to abnormal MRI features and abnormal PTEN sequencing was identified. All subjects had significant macrocephaly (on average >4 SD above the mean), developmental delay with or without autism spectrum disorder and uniform MRI features of enlarged perivascular spaces and multifocal periventricular white matter abnormalities. The phenotype of PHTS may include MRI abnormalities such as multifocal periventricular white matter abnormalities and enlarged perivascular spaces. These neuroimaging findings, in association with macrocephaly and developmental delay, should prompt consideration of PTEN as a diagnostic possibility.
Insights
Patients with PTEN hamartoma tumor syndrome (PHTS) often show specific MRI findings. These include macrocephaly, developmental delay, enlarged perivascular spaces, and white matter abnormalities, suggesting PTEN gene testing.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- PTEN hamartoma tumor syndrome (PHTS) is a genetic disorder associated with tumor development.
- Clinical presentation of PHTS can be variable, often including neurological manifestations.
- Identifying specific phenotypes aids in early diagnosis and management.
Purpose of the Study:
- To describe the characteristic MRI findings in patients with PTEN mutations and PHTS.
- To correlate neuroimaging features with clinical and genetic data.
- To highlight the diagnostic utility of MRI in suspected PHTS cases.
Main Methods:
- Retrospective review of clinical data and MRI scans from 23 patients.
- Patients were identified through tertiary care centers specializing in white matter disorders.
- Genetic sequencing confirmed PTEN mutations in all subjects.
Main Results:
- All patients exhibited significant macrocephaly (average >4 SD above mean).
- Common findings included developmental delay, autism spectrum disorder, enlarged perivascular spaces, and multifocal periventricular white matter abnormalities.
- These MRI features were consistent across the patient cohort.
Conclusions:
- The MRI phenotype in PHTS patients includes macrocephaly, white matter abnormalities, and enlarged perivascular spaces.
- These neuroimaging findings, coupled with developmental delay, suggest PTEN as a key diagnostic consideration.
- MRI can serve as a valuable tool in the diagnostic pathway for PHTS.
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