Abstract Details

Title The Path to Finding a Unifying Diagnosis – A Case Report of Mitchell Syndrome in a Pediatric Patient

Topic Child Neurology and Developmental Neurology

Presentation(s) P2 - Poster Session 2 (11:45 AM-12:45 PM)

Poster/Presentation
Number 8-005

Objective We present a case report of a pediatric patient who developed corneal ulcerations, sudden bilateral sensorineural hearing loss, diffuse keratosis pilaris, and gait abnormality within 4 months, who ultimately was diagnosed with an ACOX1 mutation, significant for Mitchell Syndrome.

Background Mitchell syndrome is an extremely rare, progressive disorder that is characterized by episodic demyelination, sensorimotor polyneuropathy changes, and hearing loss. It is caused by a de novo heterozygous missense mutation in acyl-CoA oxidase (ACOX1), which causes an increase in reactive oxygen species level. As of June 2022, less than twenty people in the world have been diagnosed with this syndrome.

Design/Methods Our patient is a twelve-year-old male who was admitted for evaluation of acutely progressive lower extremity weakness. CSF studies were notable only for elevated protein. MRI Brain was normal, but MRI complete spine revealed a long segment dorsal cord enhancing signal abnormality spanning the entire cord length, with enhancement of cauda equina nerve roots. EMG results were consistent with severe length dependent sensory motor polyneuropathy of predominantly axonal type.

Results

The patient received 2 rounds of high dose steroids and 2 doses of IVIG 1g/kg. Following the confirmation of his underlying diagnosis, he was started on N-acetyl cysteine supplementation for compassionate use to help mitigate disease symptoms.

Conclusions

The constellation of episodic demyelination, sensorimotor polyneuropathy, and sensorineural hearing loss should raise suspicion for an underlying genetic syndrome, specifically Mitchell Syndrome.

Authors/Disclosures
Vanessa Nguyen, DO PRESENTER	Dr. Nguyen has nothing to disclose.
Duo Li (Children's Healthcare of Atlanta)	No disclosure on file
Saila Upadhyayula, MD (Emory University)	Dr. Upadhyayula has nothing to disclose.

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