Global Hypotonia, Areflexia and Severe Cognitive Impairment: A TECPR2-HSAN with Intellectual Disability Case Report

Abstract

TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2-HSAN with ID) is a rare and complex neurological disorder characterized by developmental delay, hypotonia, intellectual disability, ataxia, paraplegia and areflexia. Most patients experience autonomic dysfunction, central hypoventilation, and die before the third decade of life.
We report the case of a seven-year-old boy with dysmorphic features, axial hypotonia from birth, and global developmental delay progressing to lower-limb areflexia, severe intellectual disability, dysarthria and ataxia. He experienced nocturnal apneas and episodes of dysphagia and choking, some associated with aspiration pneumonia and decreased alertness. Extensive investigations were inconclusive until exome sequencing at age 16 identified a homozygous variant in the TECPR2 gene, confirming the diagnosis.
This case contributes to the limited literature on this rare disorder and highlights its progressive multisystem involvement and diagnostic challenges. Early exome sequencing can reduce diagnostic delay, guiding management, anticipatory care, and family counseling.