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PSEUDO-TORCH- A rare mutation causing global development delay, microcephaly and extensive band like brain calcification

CASE REPORT

Pseudo-TORCH 1 syndrome is an inherited autosomal recessive disorder that clinically and radiologically mimic congenital TORCH infection. We report a case of three and half years old child who was a product of consanguineous marriage, 6th in order of 6 siblings with three sibling deaths in early neonatal period. He presented with early infantile seizures requiring polytherapy, progressive microcephaly below 3rd centile, facial dysmorphism with tower shaped skull, high-arched palate, low-set ears, and sloping forehead alongwith global developmental delay. Considering previous neonatal deaths, his detailed neonatal metabolic screening was done that came negative. There were symmetrical band like intra-parenchymal calcification as well as in pons and thalami. MRI brain revealed pachygyria and agenesis of corpus callosum. Systemic examination and investigation showed no visceromegaly, heart defect, cataract or thrombocytopenia. Serological testing for infectious agents including Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex was negative. His Whole exome sequencing revealed OCLN gene mutation consistent with Pseudo-TORCH syndrome-1. Our index family had 4 deaths including the index patient. This emphasizes that a genetic diagnosis is mandatory in such cases in order to prevent morbidity and mortality.
Keywords: Calcifications, Microcephaly, Pseudo-TORCH, Whole exome sequencing.

Javeria Alvi
University of Child Health Sciences & The Children's Hospital
Pakistan

Tipu Sultan
University of Child Health Sciences & The Children's Hospital
Pakistan

Mahrukh Sultan

Pakistan

Saher Ahdi
University of Child Health Sciences & The Children's Hospital
Pakistan

 

 


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