MRI findings in a patient with partial monosomy 10p

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Partial monosomy 10p is a rare chromosomal disorder.
• It is typically characterized by distinctive facial features, congenital heart defects, urinary tract abnormalities, and developmental delays.

Observation:

• This report details a patient with documented partial monosomy 10p.
• The patient presented with seizures not linked to hypocalcaemia.
• Magnetic resonance imaging revealed cortical atrophy and decreased white matter volume.

Findings:

• This is the first documented instance of seizures unrelated to hypocalcaemia in partial monosomy 10p.
• Neuroradiographic abnormalities, including cortical atrophy and reduced white matter, were observed.
• These findings provide novel insights into the neurological manifestations of this condition.

Implications:

• The observed neuroradiographic abnormalities may help elucidate the causes of developmental delay and ventriculomegaly in partial monosomy 10p.
• This study contributes to a better understanding of the neurological underpinnings of rare chromosomal disorders.
• Further research into these imaging findings could guide future diagnostic and therapeutic strategies.