Hassan Kassem MD, Abstract Co-Author: Nothing to Disclose

Sari saleh Alsuhibani MBBS, MD, Presenter: Nothing to Disclose

Sherif Abdelfattah MD, PhD, Abstract Co-Author: Nothing to Disclose

Fahad Alsheikh, Abstract Co-Author: Nothing to Disclose

Ayman Hamdy Gaballah MD, FRCR, Abstract Co-Author: Nothing to Disclose

The purpose is to assess the clinical and neuroimaging features of a biotin-responsive basal ganglia disease before and after treatment of a subacute encephalopathy and to compare the disease with the other basal ganglia diseases of childhood  

We retrospectively reviewed the clinical, laboratory and neuroimaging features of fifteen (15) genetically proven cases of biotin-responsive basal ganglia. All patients were of arab ancestry and have consanguineous parents . Recessive genetic defect was detected in all cases.The chemical tests for organic and inorganic toxic compounds were normal in all cases. All patients were presented with recurrent subacute encephalopathy leading to seizures, extrapyramidal symptoms and coma . MRI of the brain were done in all cases at the onset of symptoms and within a few days after the administration of high doses of biotin (5-10 mg/kg/d).

The brain MRI showed bilateral lesions in the caudate heads in all cases with complete or partial involvement of the putamen. The globus pallidus and cerebellum were spared in all patients. In 12 cases, discrete abnormal signal changes were observed in the mesencephalon, cortical-subcortical regions and thalami. In 8 cases when the disease was advanced, patchy white matter disease was found. The high signal abnormality of the mesencephalon and cortical-subcortical areas were disappeared after treatment with biotin and thiamine while the caudate and putamen necrosis remained unchanged in all patients including those who became asymptomatic. .

The neurological features, control of the disease with biotin and the distinctive MRI features should lead to the diagnosis of BBGD. It is important to check for the presence of this disease in children with acute onset extrapyramidal symptoms as therapeutic trial of biotin and thiamine can be lifesaving .

It is important to check for the presence of this disease in children with acute extrapyramidal symptoms or subacute encepalopathy as it can be managed without further neurological deterioration

Kassem, H, Alsuhibani, S, Abdelfattah, S, Alsheikh, F, Gaballah, A, Biotin-responsive Basal Ganglia Disease (BBGD): Neuroimaging Features before and after Treatment  .  Radiological Society of North America 2013 Scientific Assembly and Annual Meeting, December 1 - December 6, 2013 ,Chicago IL. http://archive.rsna.org/2013/13023355.html