A case report of Kabuki make-up syndrome with cytomegalovirus infection

Area of Science:

• Genetics
• Pediatrics
• Infectious Diseases

Background:

• Kabuki make-up syndrome (KS) is a rare genetic disorder characterized by distinctive facial features and developmental delay.
• Individuals with KS often exhibit increased susceptibility to infections.
• Cytomegalovirus (CMV) infection is a common opportunistic infection in immunocompromised individuals.

Observation:

• An 8-month-old male infant diagnosed with KS presented with developmental delay.
• The infant had a history of intractable stridor and liver dysfunction due to CMV infection at 2 months old.
• The patient was recently diagnosed with acute idiopathic thrombocytopenic purpura (ITP).

Findings:

• A correlation was observed between the number of CMV DNA copies and the patient's platelet count.
• Elevated CMV DNA levels were speculated to precede the onset of ITP in this KS patient.
• This suggests a potential mechanism linking persistent CMV infection to ITP in KS.

Implications:

• This case highlights the importance of monitoring for opportunistic infections like CMV in infants with KS.
• Understanding the interplay between KS, CMV, and ITP may lead to improved diagnostic and therapeutic strategies.
• Further research is warranted to elucidate the precise mechanisms underlying CMV-associated ITP in KS.