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Biotin-Responsive Basal Ganglia Disease

BBGD


Presentation

  • CONCLUSION: Clinicians should suspect BBGD in any child presenting with sub acute encephalopathy, abnormal movement and MRI findings as described above. Both biotin and thiamine are essential for disease management.[ncbi.nlm.nih.gov]
  • Biotin responsive basal ganglia disease (BBGD), is a potentially treatable inherited metabolic disorder which clinically presents as sub-acute encephalopathy in children.[ncbi.nlm.nih.gov]
  • Abstract Archives of the RSNA, 2013 SSQ17-05 Biotin-responsive Basal Ganglia Disease (BBGD): Neuroimaging Features before and after Treatment Scientific Formal (Paper) Presentations Presented on December 5, 2013 Presented as part of SSQ17: Pediatrics[archive.rsna.org]
  • Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy.[ncbi.nlm.nih.gov]
  • Abstract Biotin-responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe cogwheel rigidity, dystonia, quadriparesis[ncbi.nlm.nih.gov]
Pathologist
  • PMID: 24260777 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
Generalized Seizure
  • Seizures are mainly simple partial or generalized seizures and are easily controlled with antiepileptic drugs. Infantile spasms also occur [ Yamada et al 2010 ].[ncbi.nlm.nih.gov]
Cerebellar Sign
  • Cerebellar signs, supranuclear facial nerve palsy, external ophthalmoplegia, and ataxia are variably present.[ncbi.nlm.nih.gov]
Pyramidal Tract Signs
  • tract signs (quadriparesis, hyperreflexia) typically in a child age 3-10 years and usually preceded by febrile illness or some other stress.[ncbi.nlm.nih.gov]

Treatment

  • CONCLUSION: Our study suggests that over 30 months of treatment, the combination of biotin plus thiamine is not superior to thiamine alone in the treatment of biotin-responsive basal ganglia disease.[ncbi.nlm.nih.gov]
  • We report two patients with BBGD who were metabolically stable on treatment and developed depression later in life.[ncbi.nlm.nih.gov]
  • The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.[ncbi.nlm.nih.gov]
  • TY - JOUR T1 - Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment.[wwww.unboundmedicine.com]
  • ., confusion, speech impairment, and difficulty swallowing), typically preceded by headaches, vomiting, or diarrhea. 59-61 Without treatment BBGD can be fatal, but high-dose biotin treatment prevents disease progression and symptoms disappear.[biotin.com]

Prognosis

  • Methods: We diagnosed a family affected by BBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process.[cns.conferenceseries.com]
  • Consultant in Paediatric Metabolic Medicine at GOSH, says: “Biotin–thiamine responsive basal ganglia disease is a treatable condition which is difficult to distinguish from Leigh syndrome and similar mitochondrial diseases, for which no cures exist and the prognosis[gosh.nhs.uk]

Etiology

  • Biotin-responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Only few cases have been reported earlier in literature.[ncbi.nlm.nih.gov]
  • Type your tag names separated by a space and hit enter Abstract Biotin-responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed.[wwww.unboundmedicine.com]
  • I'm particularly curious about this study because based on what they authors are speculating in the abstract, it seems that high dose biotin might be useful in some non-MS cases that may involve a similar etiology (if we knew what the etiology was, of[raypeatforum.com]
  • The basal ganglia lesions were unusual and the etiology for quadriplegia was not clear. Hence, a "Google" search was done to find out the link between the neurodeficit and the radiological findings.[indianpediatrics.net]

Pathophysiology

  • Animal models are vital to understanding the pathophysiology of thiamine and biotin transport in the brain, particularly the levels of biotin and thiamine in the brain at the basal ganglia.[ojrd.biomedcentral.com]
  • J Clin Endocrinol Metab 93:2084–2088 CrossRef PubMed Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology (review).[link.springer.com]

Prevention

  • Although its aetiology is unknown, it is important to recognize this disease, since its symptoms may be reversed and the progression of its clinical course prevented simply by providing biotin.[ncbi.nlm.nih.gov]
  • Since biotin alone could not prevent the recurrence of crises in some patients, a more appropriate term to describe the disease would be biotin-thiamine-responsive basal ganglia disease (BTBGD).[ncbi.nlm.nih.gov]
  • ., confusion, speech impairment, and difficulty swallowing), typically preceded by headaches, vomiting, or diarrhea. 59-61 Without treatment BBGD can be fatal, but high-dose biotin treatment prevents disease progression and symptoms disappear.[biotin.com]
  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.de]

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