[Genetic syndromes that mimic congenital infections: report of 2 cases]

Area of Science:

• Medical Genetics
• Pediatric Neurology
• Infectious Diseases

Background:

• Genetic syndromes mimicking congenital infections require prompt recognition due to recurrence risks.
• Congenital cytomegalovirus (CMV) infection is a common cause of congenital abnormalities.
• Differentiating genetic disorders from congenital infections is crucial for accurate diagnosis and management.

Observation:

• A male infant presented with intrauterine growth retardation, microcephaly, intracranial calcifications, white matter abnormalities, microphtalmy, bilateral cataract, and hearing loss.
• Congenital CMV infection was suspected, but serologic markers were inconclusive (IgG+/IgM-).
• The infant's half-sister exhibited a similar phenotype, suggesting a genetic etiology over infection.

Findings:

• The described family presents a distinct phenotype with suspected autosomal dominant inheritance, severe ophthalmological abnormalities, and unusual brain imaging.
• This presentation differs from previously reported cases of pseudo-Torch syndrome, which are typically autosomal recessive.
• The findings challenge the initial suspicion of congenital CMV infection, supporting a novel genetic syndrome.

Implications:

• Accurate diagnosis of genetic syndromes that mimic congenital infections is vital to prevent unnecessary treatments and inform genetic counseling.
• Recognition of this distinct genetic disorder can aid in identifying other affected families and understanding its inheritance pattern.
• Further research is needed to elucidate the specific genetic mutation and underlying mechanisms of this rare condition.