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]

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]

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. [pubfacts.com]

Symptoms may present in infancy, childhood, or adolescence, and episodes are often triggered by infection or febrile illness. [invitae.com]

• Overeating

  RESULT: Eighteen children from 13 families seen over a period of nine years (2003-2012) were included. (Age range: 14month to 23 years, M: F: 1:1). [ncbi.nlm.nih.gov]

  Meet Inspiring Speakers and Experts at our 3000+ Global Conference Series LLC LTD Events with over 1000+ Conferences, 1000+ Symposiums and 1000+ Workshops on Medical, Pharma, Engineering, Science, Technology and Business. [cns.conferenceseries.com]

  Result : Eighteen children from 13 families seen over a period of nine years (2003-2012) were included. (Age range: 14month to 23 years, M: F: 1:1). [pubfacts.com]

  Rosenberg has published over 270 original scientific papers, chapters, reviews and editorials. [books.google.de]

• Cerebellar Sign

  Cerebellar signs, supranuclear facial nerve palsy, external ophthalmoplegia, and ataxia are variably present. [ncbi.nlm.nih.gov]

• Generalized Tonic-Clonic Seizure

  Seizures occurred in 13 of the 18 (72%) patients, and the seizures were mainly partial or generalized tonic-clonic seizures. [ojrd.biomedcentral.com]

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]

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]

However, the favorable outcome could be related to early initiation of treatment in several of them. Thiamine and biotin are essential in the treatment regimens of BBGD In original reports, thiamine was not effective [ 1 ]. [ojrd.biomedcentral.com]

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]

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]

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]

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]

Depending on pathophysiology, optimal supplementation efficiency may need a vitamin (or its derived cofactor) at various pharmacological dosages and routes of administration. [forum.nutrimuscle.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]

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]

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]

[…] neurological impairments that develop over weeks to months (e.g., 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 [biotin.com]

Early molecular diagnosis of BBGD is particularly important to prevent basal ganglia damage, since the progression of the pathology and of the clinical course of symptoms can be prevented simply by the administration of biotin(3). [indianpediatrics.net]