Novel PIEZO 2 mutations resulting in distal arthrogyposis with impaired proprioception and touch, alongside epilepsy: A clinical case report.

Abstract

Objective

Loss of function PIEZO 2 mutations have been linked to distal arthrogryposis with impaired proprioception and touch (DAIPT). The key features of this disease include hypotonia at birth, breathing difficulty, scoliosis, hand and feet deformities, sensory ataxia, and impaired proprioception and vibration. Causal association with central nervous system manifestations has not been established.

Methods

We present a case of young woman with PIEZO 2 mutations with DAIPT, who in addition to typical features also developed epilepsy.

Results

A 20-year-old young woman presented with symptoms of feeding difficulty, hypotonia, weakness, delayed motor milestones, short stature, feet and hand deformities, scoliosis, and imbalance. She developed seizures described as generalized tonic-clonic seizures at the age of 16 years. Her exam showed contractures at the elbows, severe hallus valgus, pes planus, thumb subluxation, distal more than proximal muscle weakness, impaired proprioception and vibration sensation. Her electromyography and nerve conduction study was normal. Whole Exome Sequencing was performed which revealed novel compound heterozygous mutations in PIEZO 2 (loss of function) and was diagnosed with DAIPT.

Discussion

It is possible that loss of function mutations of PIEZO 2 may have a role in the pathogenesis of CNS manifestations like epilepsy, as in our patient.