Objective:

NA

Background:

NA

Design/Methods:

Retrospective Chart Review

Results:

17 year old immigrant female presented for chronic progressive neurological decline characterized by generalized weakness, ataxia, head tremor and severe scoliosis over several years. Symptoms began at age 7 and by age 10 she required assistance with ambulation. There was consanguinity between parents and older brother had severe neuromuscular scoliosis resulting in tracheostomy and mechanical ventilation. Initial exam notable for decreased spontaneous speech, cervical/cephalic tremor, decreased bulk and tone, diffuse weakness 4-4+/5 throughout, DTRs absent in the lower extremities, toes upgoing with no clonus. She had profound scoliosis, a narrow based ataxic gait requiring moderate assistance, truncal titubation, bradykinesia on rapid alternating movements, and dysmetria on finger to nose testing.  

Based on initial examination and clinical history, consideration was given to Friedreich’s Ataxia. MRI brain was normal, MRI total spine showed severe thoracolumbar dextroscoliosis, CGH revealed areas of homozygosity (0.8%), and FXN repeat expansion analysis was normal. However, vitamin E levels were markedly reduced (alpha-tocopherol: 0.6 mg/dL; gamma-tocopherol: <0.2 mg/dL). The patient was started on high dose vitamin E while awaiting genetic evaluation. Whole exome sequencing identified a pathogenic mutation in the TTPA gene, confirming a diagnosis of Ataxia with Vitamin E Deficiency (AVED).  

Conclusions:

AVED is a rare autosomal recessive disorder that mimics Friedreich’s Ataxia. It is crucial to consider this diagnosis in patients presenting with the above symptoms as early treatment can halt or slow progression of disease. If left untreated, the accumulated symptoms are typically irreversible. We propose that in pediatric patients being evaluated for ataxia, a vitamin E level should be obtained. This is a low cost, low risk test with quick turnaround time. If low, treatment can be started while awaiting molecular confirmation in attempt to prevent further neurological decline.