Diagnostic Criteria

No consensus clinical diagnostic criteria for biotin-thiamine-responsive basal ganglia disease (BTBGD) have been published; however, suggested criteria for the diagnosis of inherited thiamine defects with prominent neurologic involvement have been proposed [.

Suggestive Findings

BTBGD should be suspected in probands with the following clinical, laboratory, and imaging findings (by phenotype) and family history.

Early-Infantile (Leigh-Like) BTBGD (age 3 months)

Clinical findings

• Vomiting

• Feeding difficulties

• Irritability

• Encephalopathy

• Hypotonia

• Seizures, infantile spasms

• Respiratory failure

Laboratory findings

Source: GeneReviews — "Biotin-Thiamine-Responsive Basal Ganglia Disease"

Differential Diagnosis

Genetic disorders of interest in the differential diagnosis of infants, children, and adults presenting with acute or subacute encephalopathy are listed in . Table 2. Genes of Interest in the Differential Diagnosis of Acute Biotin-Thiamine-Responsive Basal Ganglia Disease

Management Guidelines

No clinical practice guidelines for biotin-thiamine-responsive basal ganglia disease (BTBGD) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with BTBGD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

Biotin-Thiamine-Responsive Basal Ganglia Disease: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Neurologic

| Pediatric neurologist | • Baseline exam for tone movement disorders incl dystonia, spasticity, ataxia

• Eval for seizures

Development

| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval

• Eval for early intervention/ special education

Feeding

| Gastroenterology/ nutrition/ feeding team eval | • To incl eval of aspiration risk nutritional status

Clinical Guidance

Use of sodium valproate for treatment of epilepsy should be avoided. Use of adrenocorticotropic hormone (ACTH) for epileptic spasms in individuals with BTBGD can induce status dystonicus .

Source: GeneReviews — "Biotin-Thiamine-Responsive Basal Ganglia Disease"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Biotin-Thiamine-Responsive Basal Ganglia Disease"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended at each visit.

Table 5.

Biotin-Thiamine-Responsive Basal Ganglia Disease: Recommended Surveillance

System/Concern | Evaluation

Feeding

| • Measurement of growth parameters

• Eval of nutritional status safety of oral intake

Neurologic

| • Monitor those w/seizures as clinically indicated.

• Assess for new manifestations such as seizures, changes in tone, movement disorders.

Development

| Monitor developmental progress educational needs.

Musculoskeletal

| Physical medicine, OT/PT assessment of mobility, self-help skills

Family/Community

| Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

OT = occupational therapy; PT = physical therapy

Source: GeneReviews — "Biotin-Thiamine-Responsive Basal Ganglia Disease"