Diagnostic Challenge in a TORCH-negative Infant: A Case Report of Pseudo-TORCH Syndrome
Published: April 1, 2026 | DOI: https://doi.org/10.7860/JCDR/2026/84681.23112
Rutu Udapudi, J Jayakaviyah
1. Junior Resident, Department of Paediatrics, Sree Balaji Medical College and Hospital, Chromepet, Tamil Nadu, India.
2. Senior Resident, Department of Paediatrics, Sree Balaji Medical College and Hospital, Chromepet, Tamil Nadu, India.
Correspondence
Dr. J Jayakaviyah,
H. No. 729, Suprabhath, Shree Prabhudev Swamiji Marg, Ramteerth Nagar, Belagavi-590016, Karnataka, India.
E-mail: jayakaviyah@gmail.com
Pseudo-TORCH syndrome type 1 is a rare autosomal recessive neurodevelopmental disorder that clinically and radiologically resembles congenital TORCH infections despite its non-infectious aetiology. Accurate identification remains challenging due to early-onset neurological manifestations and phenotypic overlap with infectious causes. Recognising its distinguishing clinical features is essential for timely diagnosis and counselling. The present case involves a five-and-a-half years old girl born to third-degree consanguineous parents who developed seizures within four hours of life, followed by progressive microcephaly and profound global developmental delay. Developmental assessment at 66 months revealed a mean developmental age of 3.5 months (global Developmental Quotient˜5), signifying severe impairment across all domains. Clinical examination demonstrated spasticity, generalised hypertonia, involvement of cranial nerves III, IV, IX, and X, along with nystagmus and chorioretinitis. The child experienced focal-clonic seizures refractory to multiple anti-seizure medications, with only partial symptomatic improvement. A significant family history, including a sibling with Aicardi-Goutières syndrome and another pregnancy terminated for congenital anomalies, suggested autosomal recessive inheritance and highlighted genetic heterogeneity among pseudo-TORCH-like syndromes. Genetic testing confirmed pseudo-TORCH syndrome type 1. This case highlights the importance of considering genetic aetiologies in infants presenting with TORCH-like features, particularly in populations with consanguinity. Early diagnosis facilitates appropriate management, prognostication, and targeted genetic counselling for affected families.
[
FULL TEXT ] | [ PDF]
