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Poster

Session: SLC44A4 Gene Deficiency: A Case Report showcasing the use of Supportive Photobiomodulation in a congenital conundrum with a Cerebral Palsy-Like Presentation

SLC44A4 Gene Deficiency: A Case Report Showcasing the Use of Supportive Photobiomodulation in a Congenital Conundrum with a Cerebral Palsy-Like Presentation

Tuesday, October 31, 2023
3:55 PM – 4:01 PM  
Location: Station 6
Research Objectives: To investigate the observed enhancements in speech, gross motor and fine motor skills during the course of supportive photobiomodulation therapy in a patient with SLC44A4 gene deficiency.

Design: Case Report
Patient has been constantly monitored since 2017.

Setting: Private Practice: Meditech Rehabilitation Center

Participants: A 10 year old male with a SLC44A4 gene deficiency who had suffered from a Cerebral Palsy-Like Presentation since the age of 15 months old.

Interventions: Supportive PBMT was applied to the Lumbar-Spine twice a week and to the Cervical Spine utilizing both Light Emitting Diode (LED) and laser light sources 3 times a week, alongside intensive Physical Therapy (Cuevas Medek Exercise) and a cocktail of vitamins sublingually, thiamine, Biotin, Coenzyme Q10 etc.

Main Outcome Measures: Improvements in dystonia, speech and mobility through more balance and less ataxia.

Results: After 4 PBMT sessions, the patient appeared a bit more relaxed and had less muscle tension. His nystagmus, balance and ataxia had improved as well. Laser probe applications were extended from the cervical spine to include parts of the cranium. After one month, his dystonia had diminished and he had no trouble in straightening his legs. There was also a significant improvement in muscle tension, nystagmus and ataxia upon extension of application.

Conclusions: PBMT may play a role in the rehabilitation of those with SLC44A4 gene deficiency. Supportive PBMT, physical therapy along with supplementation of deficient micronutrients may improve various developmental and gross motor functions. This in turn showcased an unexplored treatment modality for this Biotin-Thiamine Basal Ganglia Disorder. While investigational, further studies are needed before clinical implementation.

Author(s) Disclosures: No funding was received for this manuscript. No conflict of interest among the authors either.

Learning Objectives:

  • Upon completion, participants will be able to describe their understanding of SLC44A4 gene deficiency and its potential connection to cerebral palsy-like manifestations while highlighting relevant clinical features and associations
  • Upon completion, participants will be able to describe the progress observed following the implementation of supportive photobiomodulation, including any improvements in motor function, neurological symptoms, or quality of life
  • Upon completion, participants will be able to explain the mechanisms by which photobiomodulation may exert its beneficial effects in alleviating symptoms associated with SLC44A4 gene deficiency and cerebral palsy-like presentation
  • Upon completion, participants will be able to discuss the rationale behind utilizing supportive photobiomodulation in the treatment plan for the presented case of SLC44A4 gene deficiency with cerebral palsy-like symptoms