Symptoma

Biotin-Responsive Basal Ganglia Disease

BBGD

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]

  • Swelling

    Magnetic resonance imaging demonstrated abnormal signal intensity with swelling in the basal ganglia during acute crises (n 13/13) and atrophy of the basal ganglia and necrosis during follow up (n 13/13). [ncbi.nlm.nih.gov]

    A : This image shows high T2 signal and swelling of substantia nigra (at midbrain), and signal abnormality with swelling of right inferior frontal gyrus in the cortical and subcortical region. [ojrd.biomedcentral.com]

    Using medical imaging, generalized swelling as well as specific areas of damage (lesions) in the brain can often be seen, including in the basal ganglia. [ghr.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]

  • 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]

  • 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]

  • Basal Ganglia Hemorrhage

    Basal Ganglia Hemorrhage Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. [bioportfolio.com]

  • 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]

  • 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]

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]

TY - JOUR T1 - Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. [wwww.unboundmedicine.com]

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]

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]

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]

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]

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). Zusatzmaterial Literatur 1. [springermedizin.de]