Expanding the clinical, genetic and geographic landscape of HIDEA syndrome: Southern Indian cases with a novel mutation and a review of literature

Introduction

HIDEA (hypotonia, intellectual disability, dysautonomia, epilepsy and abnormalities of the eye) syndrome is a rare autosomal recessive neurodevelopmental disorder caused by biallelic mutations in the P4HTM gene located on chromosome 3. It is characterised by a constellation of features including hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy and ocular abnormalities. Since its initial description in 2014 in Finnish patients, cases have been reported globally, with increasing recognition in diverse populations across Europe, the Middle East and Asia. To date, fewer than 50 cases have been documented worldwide, underscoring its rarity.

Case series

This report describes the clinical and genetic findings of three children from Southern India with confirmed HIDEA syndrome—the first genetically confirmed case series from the region.

Conclusion

In countries with high prevalence of consanguinity, it is essential for paediatricians to recognise the mulitisystem manifestations of this syndrome to facilitate early diagnosis, managmenent and appropriate genetic counselling.