2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-An apparently new brain MRI finding in Sotos syndrome: Extensively dilated perivascular spaces

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A recent study conducted at Massachusetts General Hospital Medical Center revealed a new finding related to Sotos syndrome on neuroimaging. Sotos syndrome is a childhood overgrowth disorder characterized by macrocephaly, large size, facial features, and varying degrees of intellectual disability. It is caused by a gene mutation on chromosome 5q35.<br /><br />The researchers reviewed the medical charts of three patients with Sotos syndrome and found that all three had diffuse perivascular space enlargement on neuroimaging. This finding is considered significant, as perivascular space enlargement is generally rare in children and usually associated with other specific disorders. The researchers believe that this is a new neuroimaging finding in Sotos syndrome.<br /><br />Furthermore, the study found that two of the patients had an associated decrease in white matter volume. This is notable because it contrasts with the typical hypotonia seen in Sotos syndrome and suggests that the perivascular space enlargement may be affecting the integrity of upper motor neurons.<br /><br />The neurological features of Sotos syndrome include hypotonia, language and motor delays, mild intellectual disability, and seizures. Neuroimaging findings commonly associated with Sotos syndrome include lateral ventricle dilation, thinning of the corpus callosum, and increased supratentorial or posterior fossa cerebrospinal fluid (CSF) spaces.<br /><br />Overall, the study highlights the importance of considering Sotos syndrome as a possible diagnosis in children with diffuse perivascular space enlargement on neuroimaging and symptoms of overgrowth or developmental delay. This study contributes to the understanding of the neurological complications and neuroimaging findings associated with Sotos syndrome.

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Presenting Author - Leah Wibecan, MD, MPH; Co-Author - Angela E. Lin, MD, FACMG; Co-Author - Karen Buch, MD; Co-Author - Otto Rapalino, MD; Co-Author - Frances A. High, MD, PhD; Co-Author - Ashley W. Wong, MS, CGC; Co-Author - Dorit Koren, MD; Co-Author - G Bradley Schaefer, MD; Co-Author - Danielle Pier, MD;

Meta Tag

Brain/Nervous System

Intellectual disability

Co-Author Angela E. Lin, MD, FACMG

Co-Author Karen Buch, MD

Co-Author Otto Rapalino, MD

Co-Author Frances A. High, MD, PhD

Co-Author Ashley W. Wong, MS, CGC

Co-Author Dorit Koren, MD

Co-Author G Bradley Schaefer, MD

Co-Author Danielle Pier, MD

Presenting Author Leah Wibecan, MD, MPH

Keywords

Massachusetts General Hospital Medical Center

Sotos syndrome

neuroimaging

gene mutation

chromosome 5q35

perivascular space enlargement

childhood overgrowth disorder

intellectual disability

white matter volume decrease

upper motor neurons