"T2/FLAIR: increased signal with swelling"
"T1 C+: no enhancement"
"DWI/ADC: facilitated diffusion"
"MRS: elevated lactate peak, reduced NAA"
"Biotin-thiamine-responsive basal ganglia disease is caused by defective thiamine transporter 2 (THTR2) activity due to mutations in the solute carrier family 19 member 3 gene (SLC19A3) 1,3. THTR2 is found in the intestines, renal tubules, and other cells, facilitating the absorption of vitamins and their uptake into the cells 1."
"MRS: elevated lactate peak, reduced NAA"
"Wernicke encephalopathy: involves the mammillary bodies"
"The presentation of biotin-thiamine-responsive basal ganglia disease is variable and has been documented to occur at any point from birth to early adulthood. Symptom onset is most often between 3 and 10 years of age. The disease is pan-ethnic; however, most of the reported cases in the literature are from the Arab population, particularly from Saudi Arabia, with an estimated prevalence of 1 in 1,000,000 1."
"Children affected by biotin-thiamine-responsive basal ganglia disease typically present with intermittent subacute encephalopathy. Movement disorder, cognitive deficits, and seizures are classical. In addition, palsies affecting nerves to the head and neck cause deficits in facial expression, eye movement, mastication and swallowing. Interestingly, acute episodes of encephalopathy often follow a febrile illness or significant stress 1."
"Atrophy, necrosis and gliosis are observed at follow-up 3."
"Treatment with high-dose biotin and thiamine supplementation early in disease progression rapidly evokes a complete, or at least partial, response in the majority of patients 3. A minority of patients have permanent disability (e.g. dysarthria, dystonia). Occasionally, presentation and acute disease progression is more fulminant and can result in death 3."
"Many systemic, metabolic and mitochondrial disorders feature bilateral and symmetrical basal ganglia lesions along with a lactate peak on MR spectroscopy. As BTBGD is a treatable disease, biotin and thiamine treatment is recommended for any patient presenting with neurologic symptoms and bilateral basal ganglia lesions until BTBGD is excluded 4."
"Many systemic, metabolic and mitochondrial disorders feature bilateral and symmetrical basal ganglia lesions along with a lactate peak on MR spectroscopy. As BTBGD is a treatable disease, biotin and thiamine treatment is recommended for any patient presenting with neurologic symptoms and bilateral basal ganglia lesions until BTBGD is excluded 4."
"Thiamine is vital for energy metabolism in the brain, with thiamine deficiency causing a multitude of neurological deficits (e.g. Wernicke encephalopathy)."