Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat)

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Infantile spasms (IS) are a severe epilepsy syndrome in infants.
• While various causes exist, chromosomal abnormalities are occasionally implicated.
• Early diagnosis and identification of etiology are crucial for management.

Observation:

• A 6-month-old boy presented with seizures at 5 months, characterized by head nods and limb flexion.
• The patient exhibited developmental delay since birth with recent deterioration.
• EEG revealed modified hypsarrhythmia, and MRI showed delayed myelination and widened extracellular space.

Findings:

• Karyotype analysis identified a de novo reciprocal translocation: 46, XY, der(9) t(7;9)(p15;p22).
• The patient's father carried the same asymptomatic translocation, indicating a familial inheritance pattern.
• This specific chromosomal abnormality is proposed as the likely cause of IS and severe developmental anomalies.

Implications:

• Chromosomal analysis should be considered in infantile spasms cases with unclear etiology.
• Identifying genetic causes like translocations can guide prognosis and genetic counseling.
• This case highlights the link between specific chromosomal abnormalities and severe neurodevelopmental disorders in infants.