Pdf biotinresponsive basal ganglia disease should be renamed. Biotinresponsive basal ganglia disease is an autosomal recessive disorder with childhood onset that presents with subacute episodes of encephalopathy often triggered by febrile illness and characterized by confusion, dysarthria, and dysphagia that progresses to severe cogwheel rigidity, dystonia, quadriparesis and, if left untreated, to. Biotin responsive basal ganglia disease should be renamed biotin thiamine responsive basal ganglia disease. The disease was first described in 1998 and later genetically characterized in 2005 ozand et al. To investigate the clinical, genetic, and neuroradiologic data of biotin responsive basal ganglia disease bbgd and clarify the disease spectrum. Apr 16, 2015 biotin responsive basal ganglia disease bbgd is an autosomalrecessive disease, which presents as confusions, dysarthria, dysphagia and external ophthalmoplegia. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.
Biotinthiamineresponsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. This signs and symptoms information for basal ganglia disease, biotinresponsive has been gathered from various sources, may not be fully accurate, and may not be the full list of basal ganglia disease, biotinresponsive signs or basal ganglia disease, biotinresponsive symptoms. Biotinresponsive basal ganglia disease bbgd is an autosomalrecessive disease, which presents as confusions, dysarthria, dysphagia and external ophthalmoplegia. A number of conditions, including inborn errors of metabolism, can cause lesions involving the basal ganglia and result in neurological disorders that affect movement. Biotinresponsive basal ganglia disease maps to 2q36. Biotin thiamine responsive basal ganglia disease btrbgd is a rare genetic disorderwhich may be misdiagnosed due to lack of awareness regarding its existence.
In 1 family with firstcousin parents, 2 sisters were affected and 4 of their sibs, 2 boys and 2 girls, had died of a similar disease without diagnosis. Research open access biotinresponsive basal ganglia. Biotinresponsive basal ganglia disease bbgd basal ganglia are neurons deep within the brain which control movement. If left untreated with biotin, the disease can progress to severe quadriparesis and even death. Bbgd symptoms disappear within a few days with the administration of high doses of biotin 510 mgkg.
Alfadhel m, almuntashri m, jadah rh, bashiri fa, al rifai mt, al shalaan h, al balwi m, al rumayan a, eyaid w, altwaijri w. Genetic testing detected a pathogenic homozygous c. Jun 06, 20 biotin responsive basal ganglia disease bbgd, also known as thiamine metabolism dysfunction syndrome2 thmd2 mim. Basal ganglia disease an overview sciencedirect topics. Biotin thiamine responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and. Symptoms of basal ganglia disease, biotinresponsive. Biotinresponsive basal ganglia disease bbgd was first described by ozand et al in 10 patients of arab ancestry in 1998. A case report of biotinthiamineresponsive basal ganglia. It should be suspected in pediatric patients with unexplained encephalopathy whose brain mr imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and corticalsubcortical regions, as the therapeutic trial of biotin and thiamine can be lifesaving. Pdf biotinresponsive basal ganglia disease should be. Fulltext pdf mild encephalopathy with reversible splenial lesion.
Treatment of biotin responsive basal ganglia disease. Biotin thiamin responsive basal ganglia disease in siblings. Biotinresponsive basal ganglia disease new york clients tests displaying the status new york approved. The parents in all cases were consanguineous, being first cousins in 7 of the 10. Biotinthiamineresponsive basal ganglia disease btbgd may present in childhood, early infancy, or adulthood. Biotin responsive basal ganglia disease, also called thiamin metabolism dysfunction syndrome2, is caused by mutations in the gene coding for thiamin transporter2 thtr2. Biotinresponsive basal ganglia disease bbgd is an autosomal recessive disorder, which is caused by mutations in the slc19a3 gene. Bbgd typically causes subacute episodes with encephalopathy and subsequent neurological deterioration.
Biotinresponsive basal ganglia disease should be renamed. Disease onset can occur anytime between infancy and adulthood, with the preponderance of cases showing childhood onset. Test biotinthiamineresponsive basal ganglia disease. The disorder presents with varied neurological manifestations, early identification and treatment of which prevents the associated mortality and morbidity. Pdf biotinthiamineresponsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as. Biotin linus pauling institute oregon state university.
Genedx believes in responsible testing that is based on established medical guidelines, and we aim to be completely transparent with our pricing so that patients, clinicians, and payers know the cost of the test. She was again treated with pulse steroids for suspected recurrent adem, but biotinthiamineresponsive basal ganglia disease btbgd was also considered. Omim 607483 was first described in 1998 in 10 patients, 8 of whom were of saudi arabian, 1 of whom was of syrian, and 1 of whom was of yemenite ethnic origin. Test biotinthiamineresponsive basal ganglia disease via. Uses, side effects, interactions, dosage, and warning. Biotinthiamineresponsive basal ganglia disease is a rare condition that. Biotin responsive basal ganglia disease is a treatable underdiagnosed disease. Biotin responsive basal ganglia disease iotin responsive asal ganglia disease is caused by a defect in a gene which provides instructions for the thiamine transporter protein needed to carry the vitamin thiamine, obtained from food, into the cells. Omim 607483 is a rare autosomal recessive disorder, which is caused by mutations in the slc19a3 gene, encoding a thiamine transporter hthtr2. Biotinthiamineresponsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, andor dysphagia which if left untreated can eventually lead to coma and even death. Nov 21, 20 biotin thiamine responsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, andor dysphagia which if left untreated can eventually lead to coma and even death. In one family with firstcousin parents, two sisters were affected and four of their sibs, two boys and two girls, had died of a similar disease without. Biotinresponsive 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 severecogwheelrigidity, dystonia, quadriparesis, and eventual death, if left untreated.
The parents in all cases were consanguineous, being first cousins in seven of the 10. It usually presents with encephalopathy and dystonia. Biotin and thiamine responsive basal ganglia disease btrbg is a collection of rare diseases that belongs to this group, but where the clinical and radiological picture may be difficult to distinguish. Two indian siblings born to a consanguineous marriage presented with regression of milestones, epilepsy and dystonia. To investigate the clinical, genetic, and neuroradiologic data of biotinresponsive basal ganglia disease bbgd and clarify the disease spectrum. Dystonia and cogwheel rigidity are nearly always present.
Biotin responsive basal ganglia disease is an autosomal recessive disorder with childhood onset that presents with subacute episodes of encephalopathy often triggered by febrile illness and characterized by confusion, dysarthria, and dysphagia that progresses to severe cogwheel rigidity, dystonia, quadriparesis and, if left untreated, to. Biotinresponsive basal ganglia disease should be renamed biotinthiamineresponsive basal ganglia disease. Biotinresponsive basal ganglia disease is a treatable underdiagnosed disease. Analytical sensitivity should be high because the great majority of pathogenic variants thus far reported are detectable by sequencing genomic dna. Basal ganglia disease, biotinresponsive how is basal. Biotinresponsive basal ganglia disease in ethnic europeans. All patients underwent a detailed medical history and clinical. Biotinresponsive basal ganglia disease iotinresponsive asal ganglia disease is caused by a defect in a gene which provides instructions for the thiamine transporter protein needed to carry the vitamin thiamine, obtained from food, into the cells. It can lead to involuntary tensing of muscles, muscle. Biotinresponsive basal ganglia disease brbgd is a recently described subacute encephalopathy which disappears within a few days without neurological sequelae if biotin is administered early.
Biotinresponsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The disorder presents with varied neurological manifestations, early identification and treatment of. Bbgd symptoms disappear within a few days with the administration of high doses of biotin 510 mgkgd. Biotinthiamineresponsive basal ganglia disease btbgd is a neurological disorder characterized by encephalopathy and neurological decline. A defect in biotin transport has been reported in a single child. Research open access biotinresponsive basal ganglia disease. Biotinthiamineresponsive basal ganglia disease genetic. Only few cases have been reported earlier in literature. Nothing is known about the impact of these mutations. We analyzed the data for demographic and clinical features, genetic and neuroradiologic findings, and treatment efficacy.
Biotin thiamine responsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, andor dysphagia which if left untreated can eventually lead to coma and even death. A case report of biotinthiamineresponsive basal ganglia di. Biotinthiamineresponsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. Home test catalog by disorder az biotinresponsive basal ganglia disease biotinresponsive basal ganglia disease. Biotin thiamine responsive basal ganglia diseasea potentially. Intriguingly, these patients manifest biotinresponsive basal ganglia disease bbgd, a recessive disorder characterized by a brainspecific pathology of childhood onset subacute encephalopathy progressing through severe cogwheel rigidity, dystonia, and quadriparasis to eventual lethality. Btbgd represents a clinical spectrum of disorders resulting from loss of the neuronal thiamine transporter hthtr2. Biotinthiamineresponsive basal ganglia disease genetics. Biotin thiamine responsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy.
Sir, biotin thiamine responsive basal ganglia disease btrbgd is a rare genetic disorderwhich may be misdiagnosed due to lack of awareness. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and progresses to severe cogwheel rigidity, dystonia and quadriparesis. Biotinresponsive basal ganglia disease should be renamed biotin. We first investigated all patients attending our division of pediatric neurology with a genetically proven diagnosis of bbgd between 2009 and 2011. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Biotinresponsive basal ganglia diseaselinked mutations. It should be suspected in pediatric patients with unexplained encephalopathy whose brain mr imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and corticalsubcortical. Biotinthiamineresponsive basal ganglia disease btbgd is a rare treatable autosomal recessive neurometabolic disorder characterized by. Biotinresponsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Among 82 patients, only one was diagnosed with biotin responsive basal ganglia disease ctga database editors note. Some researchers named it as thiamine metabolism dysfunction syndrome2. We describe a novel, biotinresponsive basal ganglia disease in 10 patients. Misdiagnosis of basal ganglia disease, biotinresponsive. Pdf background biotinresponsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder.
Basal ganglia disease, biotinresponsive listed as bbgd. When checking for a misdiagnosis of basal ganglia disease, biotinresponsive or confirming a diagnosis of basal ganglia disease, biotinresponsive, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. Biotinthiamineresponsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy. Biotinthiamineresponsive basal ganglia disease btbgd. Biotinresponsive basal ganglia disease revisited neurology.
Biotin responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Oct 18, 2017 biotin responsive basal ganglia disease. Brain 1998, 121, 12671279 biotinresponsive basal ganglia. We describe a novel, biotin responsive basal ganglia disease in 10 patients. Basal ganglia disease, biotinresponsive how is basal ganglia disease, biotinresponsive abbreviated. It is a neurometabolic syndrome which was first described on 1988. Biotin thiamin responsive basal ganglia disease in.
Tabarki b, alfadhel m, alshahwan s, hundallah k, alshafi s, alhashem a. Biotinresponsive 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, and eventual death, if left untreated. Biotin thiamine responsive basal ganglia disease is a rare disorder, and clinical sensitivity cannot yet be estimated. Treatment of biotinresponsive basal ganglia disease. It affects a part of the nervous system that controls movement. The first patients reported were of saudi, syrian, or yemeni ancestry. Standard protocol approvals, registrations, and patient consents were obtained. Biotin thiamine responsive basal ganglia disease btbgd is a rare treatable autosomal recessive metabolic disorder caused by mutations in slc19a3 gene. Genetic testing confirmed biotinresponsive basal ganglia disease, which is secondary to mutations in the slc19a3 thiamine transporter gene, usually in middle eastern and indian patients.
Apr 26, 2016 genetic testing confirmed biotin responsive basal ganglia disease, which is secondary to mutations in the slc19a3 thiamine transporter gene, usually in middle eastern and indian patients. Jan 15, 2016 biotin thiamine responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Biotin thiamineresponsive basal ganglia disease btrbgd is a neurometabolic autosomal recessive ar disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. Biotin responsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder. Identification of a pyruvate peak on brain spectroscopy, novel mutation in slc19a3, and calculation of prevalence based on allele frequencies from aggregated next. Biotin thiamineresponsive basal ganglia disease btrbgd omim. Biotin and thiamine responsive basal ganglia disease a. Biotin thiamine responsive basal ganglia disease btbgd.
Biotinresponsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder. The clinical features appear around three to four years of age and include subacute encephalopathy confusion, drowsiness, and altered level of consciousness, ataxia. Biotin responsive basal ganglia disease bbgd is an autosomal recessive disorder, which is caused by mutations in the slc19a3 gene. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated we herein present our experience with in an extended. We describe in detail the clinical and neuroradiological features of these 10 cases and compare them with those of other basal ganglia diseases of childhood.