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]

• Suggestibility

  To investigate the suggestion that hTHTR2 can physiologically function as a biotin transporter, we examined 1) the cell biological basis of hTHTR2 dysfunction associated with the G23V and T422A mutations and 2) the substrate specificity of hTHTR2 and [experts.umn.edu]

  MRI showed a characteristic “bat-wing” appearance and increased signal involving the medial nucleus of the thalamus, basal ganglia and cerebellum, suggesting biotin-responsive basal ganglia disease. [pediatricneurologybriefs.com]

  Therefore, Biotin treatment is suggested for any patient with symmetrical basal ganglia lesions and neurological problems until BBGD is excluded or a mitochondrial dysfunction has been clearly identified. [thieme-connect.com]

• Dysarthria

  The clinical features included sub acute encephalopathy, ataxia (n= 18), seizures (n= 13) dystonia (n=12) ,dysarthria (n= 9), quadriparesis and hyperreflexia (n=9). [ncbi.nlm.nih.gov]

  100 mg TID 15 M Died at 3.5 yrs 3 yrs Yes Yes SAE, ataxia, dysarthria, dystonia Yes Yes Died 1 No treatment No diagnosis Retrospectively diagnosed based on diagnosis of his younger sibling. 16 F 13 yrs 11 yrs Yes No SAE, ataxia dysarthria, dystonia Yes [ojrd.biomedcentral.com]

  24T21:43:30+00:00 NEUROLOGY Definition An autosomal recessive metabolic disorder (OMIM:607483) of childhood onset characterised by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysarthria [newmedicalterms.com]

• Cogwheel Rigidity

  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]

  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 [uniprot.org]

  rigidity, dystonia, quadriparesis, and eventual death, if left untreated. [plu.mx]

  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 [wikigenes.org]

• Hyperreflexia

  The clinical features included sub acute encephalopathy, ataxia (n= 18), seizures (n= 13) dystonia (n=12) ,dysarthria (n= 9), quadriparesis and hyperreflexia (n=9). [ncbi.nlm.nih.gov]

  […] affect movement, and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both sides of the body (hemiparesis or quadriparesis), problems coordinating movements (ataxia), and exaggerated reflexes (hyperreflexia [ghr.nlm.nih.gov]

• Spastic Quadriplegia

  On follow up, four patients died, two had spastic quadriplegia, six had normal outcome and the rest had speech and motor dysfunctions. [ncbi.nlm.nih.gov]

  Biotin deficiency as a cause of quadriplegia is extremely rare. We describe a 10-year-old boy with biotin responsive basal ganglia disease (BBGD) presenting as spastic quadriplegia. [indianpediatrics.net]

• Quadriplegia

  Key words: Biotin, Basal ganglia, Egg, Quadriplegia. Acute onset quadriplegia is a frequent neurological problem in children. [indianpediatrics.net]

  On follow up, four patients died, two had spastic quadriplegia, six had normal outcome and the rest had speech and motor dysfunctions. [ncbi.nlm.nih.gov]

• Gliosis

  D-F, Repwith residual atrophy and gliosis in the basal ganglia (white arrowJ Pediatr 2013;162:1291-2.0022-3476/$ - see front matter. [docslide.com.br]

  Atrophy and gliosis in the affected regions were observed in patients with chronic disease. Early treatment with a combination of biotin and thiamine resulted in clinical and neuroradiologic improvement. [ncbi.nlm.nih.gov]

  Repeat MRI showed resolution of vasogenic edema but residual atrophy and gliosis in the basal ganglia. The disease is autosomal recessive with SLC19A3 gene mutation, related to thiamine transporter-2 deficiency. [ 1 ] COMMENT. [pediatricneurologybriefs.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]

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]