Introduction:
Why Subtle Signs Like Petechiae and HSM Matter
Congenital infections can present with a wide spectrum of clinical findings—from severe neurodevelopmental issues to being entirely asymptomatic. Among these, cytomegalovirus (CMV) is the most common congenital viral infection worldwide. In many cases, infants may appear well but harbor underlying pathology that, if left undiagnosed, may lead to long-term complications. This case report showcases how early recognition of subtle signs like generalized petechiae and hepatosplenomegaly (HSM) led to the diagnosis of congenital CMV, and why timely intervention is crucial.
Case Presentation: The Curious Case of Baby Rabbani
A 4-month-old female infant, Baby presented with a non-febrile petechial rash noted over the trunk and limbs. The child was alert, active, feeding well, and developmentally age-appropriate. There were no reported seizures, vomiting, jaundice, or other systemic symptoms.
Key clinical findings:
- Generalized petechiae
- Mild hepatomegaly (5 cm span)
- Palpable spleen tip
- No fever or irritability
- Normal weight and growth parameters
Given the presence of hematologic findings in an otherwise well infant, a TORCH profile was advised to rule out congenital infections.
Diagnostic Workup: The Role of TORCH Screening
The TORCH panel (Toxoplasmosis, Other [syphilis], Rubella, Cytomegalovirus, and Herpes simplex virus) is a standard screening tool in neonatology and pediatric practice when congenital infections are suspected.
TORCH Results:
- CMV IgG: 4.99 AU/mL (Reference: <2) – Positive
- CMV IgM: 4.99 AU/mL (Reference: <2) – Positive
- Rubella IgG: 21.60 IU/mL – Positive
- Rubella IgM: <2 IU/mL – Negative
- Toxoplasma IgG/IgM: Negative
- HSV 1 and 2: IgG negative; IgM equivocal
The simultaneous presence of both CMV IgM and IgG suggested a recent or congenital CMV infection. Additional evaluation with CMV DNA PCR in urine and blood was advised to confirm the diagnosis.
Diagnosis and Interpretation
The diagnosis of congenital CMV infection was made based on clinical presentation and positive TORCH profile. CMV PCR from urine confirmed active viral replication. Cranial ultrasound was normal, and there was no evidence of intracranial calcification or hydrocephalus.
Why CMV?
CMV is a common intrauterine infection with a prevalence of 0.5–2% of all live births. While some infants are severely affected at birth, others, like in this case, may present with subtle findings like petechiae, hepatosplenomegaly, or thrombocytopenia without systemic illness.
Management: Timely Action for Long-Term Protection
After confirmation of viremia, the child was referred to a pediatric infectious disease specialist. Oral valganciclovir therapy was initiated to reduce the risk of progressive hearing loss and neurodevelopmental complications.
Follow-up plan:
- Monthly liver function tests during antiviral therapy
- Regular audiology and vision screening
- Developmental assessment every 3 months
Literature Review and Evidence-Based Discussion
A landmark study by Kimberlin et al. (2015) found that treating symptomatic congenital CMV with valganciclovir for 6 months improved hearing and developmental outcomes. Moreover, Rawlinson et al. (2017) emphasized the importance of early identification, especially in infants with mild or isolated symptoms.
CMV infection can cause sensorineural hearing loss in up to 50% of symptomatic infants. However, treatment is most effective when initiated early, preferably within the first month of life, although older infants with confirmed congenital infection and symptoms may still benefit.
Takeaway: Why Pediatricians Must Stay Alert
Subtle signs like petechiae and mild HSM in an otherwise well infant should never be ignored. The case of Baby Rabbani reinforces the value of TORCH screening in such scenarios. Prompt diagnosis of congenital CMV and early intervention can significantly improve quality of life and prevent long-term complications.
Clinical Pearls:
- Always consider congenital infections in infants with unexplained hematologic findings.
- TORCH screen is a useful diagnostic starting point, but CMV PCR is confirmatory.
- Early antiviral therapy with valganciclovir can improve hearing and neurodevelopmental outcomes.
- Regular follow-up with audiology and developmental teams is essential.
