Skip to main content
AAPM&R Events Main banner
JFK Johnson
Icon Legend
This session is not in your schedule.
This session is in your schedule. Click again to remove it.
Presentation Icons
In-Person
In-Person
On Demand
On Demand
Live Stream
Live Stream
Invite Only
Invite Only
Ticketed
Ticketed
Coffee Break
Coffee Break
Meal
Meal
Reception
Reception
Back

Pediatric Rehabilitation

(Kiosk 6) Spastic Ataxia: Unlocking the Secrets of a Rare Mitochondrial Gene Mutation

Friday, November 17, 2023
8:00 AM – 9:15 AM CT

    Primary Author(s)

  • Emilee R. Bell, DO (she/her/hers)

    Resident Physician
    Montefiore Medical Center/Albert Einstein College of Medicine PM&R Program
    New York, New York

    • Co-Author(s)

  • Mike Hagen, MD

    Fellow - Pediatric Rehabiltation
    Montefiore Medical Center
    Bronx, New York

  • D.R.C. Kathirithamby, MD

    Director, Pediatric Rehabilitation Unit, Rose F. Kennedy Center, Associate Professor - Pediatric PMR
    Montefiore Medical Center/Albert Einstein College of Medicine
    bronx, New York

Case Diagnosis: Spastic ataxia, trunk hypotonia, and developmental delays due to rare biallelic mutation of MTPAP gene.

Case Description or Program Description: Blue is a three-year-old boy from an intrafamilial union born full-term via c-section with an unremarkable prenatal and postnatal course. At 12 months old, he had a seven-day episode of vomiting, diarrhea, and shaking as described by his mother. After this event, the family noted significant regressions in language and motor milestones. At 23 months, he presented to the Rehab clinic with esotropia, vocalization without words, and the inability to stand unassisted. Additionally, Blue had behavioral changes with hand flapping, finger writhing, and body rocking.

Setting: Outpatient

Assessment/Results: Initial MRI brain findings at 21 months old showed bilateral and symmetric periventricular signal abnormalities in a predominantly periatrial distribution. The pattern initially suggested adrenal leukodystrophy. At 24 months old, Blue had whole exome sequencing that showed maternally and paternally inherited homozygous pathogenic biallelic mutation of the MTPAP gene. He was referred to and started early interventional therapy. Throughout this past year, he developed a spastic ataxic gait pattern with trunk hypotonia and progressive bilateral planovalgus deformities treated with ankle-foot orthoses.

Discussion (relevance): A biallelic mutation in the MTPAP gene leads to the depletion of respiratory chain proteins in mitochondria associated with delayed DNA repair, increased DNA double-strand breaks, and cell death. It presents as progressive cerebellar ataxia, speech delay, spastic paraparesis with emotional lability, and optic atrophy, but case reports for this mutation are limited. The constellation of symptoms could be mistaken for differentials such as cerebral palsy or spinal muscular atrophy.

Conclusions: The biallelic mutation of the MTPAP gene is a rare genetic disorder with low reported cases. The progression, trial treatments, and prognosis of this case will serve to inform care for future occurrences of this debilitating MTPAP genetic mitochondrial disorder.