Table 4.

Biotin-Thiamine-Responsive Basal Ganglia Disease: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Acute encephalopathy ICU care incl treatment of seizures & ↑ intracranial pressure
  • Thiamine may be ↑ to 2x regular dose & given intravenously.
  • Empiric treatment w/antimicrobial/antiviral agents recommended until infectious causes of acute/subacute encephalopathy are ruled out.
Neurologic disorder Both biotin & thiamine oral therapy (See Targeted Therapies.)
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Avoid valproate.
  • Use ACTH w/caution due to risk of status dystonicus.
  • Education of parents/caregivers 1
Developmental delay / Intellectual disability / Neurobehavioral issues See Developmental Delay / Intellectual Disability Management Issues.
Dysarthria By speech-language therapistManage communication incl augmentative & alternative communication.
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Dystonia Symptomatic treatment incl trihexyphenidyl or levodopa
Poor weight gain / Failure to thrive
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia

Transition to adult care 		When independent living as an adult seems unlikely, develop realistic plans for adult life (see American Epilepsy Society Transitions from Pediatric Epilepsy to Adult Epilepsy Care).Starting by age ~18 yrs or at standardized age for affected person's country of residence
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ACTH = adrenocorticotropic hormone; ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Biotin-Thiamine-Responsive Basal Ganglia Disease

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