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]

We present a genetically confirmed case with typical clinical and radiological findings and an excellent response to treatment. A 12-year-old girl presented with generalized dystonia and recurrent seizures. [neurologyindia.com]

• Epilepsy

  The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability. [medworm.com]

  Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. Clinical and radiologic findings. [ncbi.nlm.nih.gov]

  Abbreviations BBGD biotin-responsive basal ganglia disease MELAS mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes MERRF myoclonic epilepsy associated with ragged red fibers WE Wernicke encephalopathy © 2014 American Society [ajnr.org]

  Symptoms include: Brain lesions - typically in the basal ganglia structures (putamen and caudate). 60 Cogwheel rigidity - muscle stiffness that causes jerky movements. 60 Dystonia - muscle contractions that create twisting and abnormal postures. 59-60 Epilepsy [biotin.com]

• Fever

  Symptoms of Basal ganglia disease, biotin-responsive Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of metabolism/homeostasis Fever Abnormality of the abdomen Dysphagia Abnormality of the digestive system Dysphagia Abnormality [familydiagnosis.com]

  Typically, the neurological symptoms occur as increasingly severe episodes, which may be triggered by fever, injury, or other stresses on the body. [ghr.nlm.nih.gov]

  Fever control. Paramount as fever downregulates SLC19A3 and may exacerbate the disease. [ncbi.nlm.nih.gov]

  There was no history of preceding trauma, fever or seizures. On examination, the child appeared dull and had mask like facies. He had emotional lability and responded only to painful stimuli. The cranial nerves and optic fundii were normal. [indianpediatrics.net]

  As in other energetic defects (eg, BTRE, PDHAD, MADD), symptoms are often exacerbated by a stressful event, such as fever or trauma. [forum.nutrimuscle.com]

• Asymptomatic

  The signal abnormality of the mesencephalon, cortex, and white matter disappeared after treatment whereas the caudate and putamen necrosis persisted in all patients, including those who became asymptomatic. [ncbi.nlm.nih.gov]

  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 [archive.rsna.org]

  Finally, diagnosing more asymptomatic cases through the screening of high risk tribes and international registries to accommodate more cases of the SLC19A3 gene defect will lead to a better understanding of the natural history of the disease and will [ojrd.biomedcentral.com]

• Movement Disorder

  Movement Disorders Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. [icdlist.com]

  A number of conditions, including inborn errors of metabolism, can cause lesions involving the basal ganglia and result in neurological disorders that affect movement. 59 One such movement disorder is biotin-responsive basal ganglia disease (BBGD), considered [biotin.com]

  Mac Keith, London Google Scholar Fernandez-Alvarez E, Arzimanoglou A, Tolosa E (Hrsg) (2005) Paediatric movement disorders. [link.springer.com]

  disorders including Parkinson ’s disease (PD), essential tremor (ET), dystonia, and other neurological disorders such as epilepsy and obsessive-compulsive disorder (OCD). [medworm.com]

• Short Stature

  Additionally, in patients with ABL, malabsorption syndrome (eg, chronic diarrhea, short stature, anemia) starting in childhood28,29 and nyctalopia (which is a known consequence of vitamin A deficiency on retina function)30 are often the first clinical [forum.nutrimuscle.com]

• Dysphagia

  Symptoms of Basal ganglia disease, biotin-responsive Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of metabolism/homeostasis Fever Abnormality of the abdomen Dysphagia Abnormality of the digestive system Dysphagia Abnormality [familydiagnosis.com]

  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]

  Unfortunately there's no figure of the pathway available at this moment is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe rigidity, dystonia [treatable-id.org]

  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 and dysphagia, which, if not [medical-dictionary.thefreedictionary.com]

• Vomiting

  […] eyeball movements. 59 Quadriparesis - weakness in all four limbs. 60 Sub-acute encephalopathy - neurological impairments that develop over weeks to months (e.g., confusion, speech impairment, and difficulty swallowing), typically preceded by headaches, vomiting [biotin.com]

  The teenager began to experience difficulties in swallowing saliva, vomiting, and a sensation of incomplete bladder emptying. Her parents noticed that she was walking slowly and that she seemed to be exhausted after a few hours of being awake. [gosh.nhs.uk]

  Multiple acyl-coA deficiency can also present with acute decompensations with lactic acidosis and rhabdomyolysis in cases of increased energetic demand (eg, intense physical exercise, fasting, infections), heavy alcohol consumption, vomiting, or diarrhea [forum.nutrimuscle.com]

• Failure to Thrive

  […] syndrome Hypoalphalipoproteinemia Hypobetalipoproteinemia Hypotonia with lactic acidemia and hyperammonemia Hypotonia-cystinuria syndrome Hypotonia-cystinuria type 1 syndrome Hypotonia-failure to thrive-microcephaly syndrome Hypoxanthine guanine phosphoribosyltransferase [se-atlas.de]

• Myopathy

  Abbreviations BBGD biotin-responsive basal ganglia disease MELAS mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes MERRF myoclonic epilepsy associated with ragged red fibers WE Wernicke encephalopathy © 2014 American Society [ajnr.org]

  […] deficiency Adrenomyeloneuropathy Adult Krabbe disease Adult neuronal ceroid lipofuscinosis Adult polyglucosan body disease Adult-onset autosomal recessive sideroblastic anemia Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy [se-atlas.de]

  […] deficiency (RTD), (2) mitochondrial fatty acids β-oxidation, seen in multiple acyl-coA deficiency (MADD; defects of ETF and ETF ubiquinone-oxidoreductase), and quite similar diseases more recently described (acyl-coA dehydrogenase 9 deficiency, lipid storage myopathy [forum.nutrimuscle.com]

• Encephalopathy

  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]

• Confusion

  It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. If left untreated with biotin, the disease can progress to severe quadriparesis and even death. [ncbi.nlm.nih.gov]

  Unfortunately there's no figure of the pathway available at this moment is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe rigidity, dystonia [treatable-id.org]

  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 and dysphagia, which, if not [medical-dictionary.thefreedictionary.com]

• Ataxia

  100 mg TID 13 F 4 yrs 3 yrs Yes No SAE, ataxia, dysarthria, loose mile stones No Yes Normal 1 Biotin 10 mg/kg/day No delay Thiamine 100 mg TID 14 M 6 yrs 4 yrs Yes No SAE, ataxia, dysarthria, dystonia Yes Yes Mild motor and speech deficit 3 Biotin 10 [ojrd.biomedcentral.com]

  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]

  He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. MJD is now the most common autosomal domiant spinocerebellar ataxia world-wide. Dr. [books.google.de]

  […] due to ubiquinone deficiency Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Autosomal recessive congenital cerebellar ataxia due to [se-atlas.de]

  BTBGD is characterized by recurrent encephalopathy including seizures, ataxia, and dystonia, an abnormal MRI with hyperintensities in the caudate and/or putamen, and normal biochemical lab tests. [invitae.com]

• Cerebellar Ataxia

  […] due to ubiquinone deficiency Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Autosomal recessive congenital cerebellar ataxia due to [se-atlas.de]

  Neurology 75:e75–e79 CrossRef PubMed Google Scholar Dürr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. [link.springer.com]

  […] its degradation.27 In both ABL and ataxia with vitamin E deficiency, blood vitamin E levels are very low, and patients suffer from motor difficulties because of cerebellar and sensory ataxia (from involvement of posterior columns and/or sensory neuronopathy [forum.nutrimuscle.com]

• Abnormal Gait

  A 10-year-old girl with a 4-month history of abnormal gait and dysarthria had bilateral external ophthalmoplegia, dystonia, and altered mental status. [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]

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

BBGD can be fatal, but high-dose biotin treatment prevents disease progression and symptoms disappear. [biotin.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]

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]

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]

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]