Biotinresponsive basal ganglia diseaselinked mutations. We describe a novel, biotinresponsive basal ganglia disease in 10 patients. Oct 18, 2017 biotin responsive basal ganglia disease. Biotinresponsive basal ganglia disease bbgd was first described by ozand et al in 10 patients of arab ancestry in 1998. Dystonia and cogwheel rigidity are nearly always present.
Biotin thiamine responsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. Biotin thiamine responsive basal ganglia diseasea potentially. It usually presents with encephalopathy and dystonia. Basal ganglia disease, biotinresponsive how is basal.
Biotinresponsive basal ganglia disease revisited neurology. We first investigated all patients attending our division of pediatric neurology with a genetically proven diagnosis of bbgd between 2009 and 2011. 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. Bbgd typically causes subacute episodes with encephalopathy and subsequent neurological deterioration. Biotinresponsive basal ganglia disease in ethnic europeans. Biotin responsive basal ganglia disease is a treatable underdiagnosed disease. Biotin responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Analytical sensitivity should be high because the great majority of pathogenic variants thus far reported are detectable by sequencing genomic dna. A case report of biotinthiamineresponsive basal ganglia di. Biotin thiamine responsive basal ganglia disease btbgd is a rare treatable autosomal recessive metabolic disorder caused by mutations in slc19a3 gene. Biotinthiamineresponsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy.
Standard protocol approvals, registrations, and patient consents were obtained. Home test catalog by disorder az biotinresponsive basal ganglia disease biotinresponsive basal ganglia disease. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Biotinresponsive basal ganglia disease bbgd is an autosomal recessive disorder, which is caused by mutations in the slc19a3 gene. 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. To investigate the clinical, genetic, and neuroradiologic data of biotin responsive basal ganglia disease bbgd and clarify the disease spectrum. Bbgd symptoms disappear within a few days with the administration of high doses of biotin 510 mgkgd. Two indian siblings born to a consanguineous marriage presented with regression of milestones, epilepsy and dystonia. Apr 16, 2015 biotin responsive basal ganglia disease bbgd is an autosomalrecessive disease, which presents as confusions, dysarthria, dysphagia and external ophthalmoplegia. Biotinresponsive basal ganglia disease should be renamed. Biotin thiamineresponsive basal ganglia disease btrbgd omim. Pdf biotinresponsive basal ganglia disease should be. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and. 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.
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. 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. 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. Symptoms of basal ganglia disease, biotinresponsive. Omim 607483 is a rare autosomal recessive disorder, which is caused by mutations in the slc19a3 gene, encoding a thiamine transporter hthtr2. 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.
The parents in all cases were consanguineous, being first cousins in seven of the 10. Test biotinthiamineresponsive basal ganglia disease via. Biotin thiamin responsive basal ganglia disease in. The disorder presents with varied neurological manifestations, early identification and treatment of. A defect in biotin transport has been reported in a single child. Biotinresponsive basal ganglia disease maps to 2q36. Tabarki b, alfadhel m, alshahwan s, hundallah k, alshafi s, alhashem a. We describe a novel, biotin responsive basal ganglia disease in 10 patients. Biotin thiamine responsive basal ganglia disease btrbgd is a rare genetic disorderwhich may be misdiagnosed due to lack of awareness regarding its existence. Jan 15, 2016 biotin thiamine responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. 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. Nothing is known about the impact of these mutations. Biotinthiamineresponsive basal ganglia disease genetic.
Biotin responsive basal ganglia disease should be renamed biotin thiamine responsive basal ganglia disease. If left untreated with biotin, the disease can progress to severe quadriparesis and even death. 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. She was again treated with pulse steroids for suspected recurrent adem, but biotinthiamineresponsive basal ganglia disease btbgd was also considered. Research open access biotinresponsive basal ganglia disease. Bbgd symptoms disappear within a few days with the administration of high doses of biotin 510 mgkg. 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. Biotinthiamineresponsive basal ganglia disease btbgd. 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.
The first patients reported were of saudi, syrian, or yemeni ancestry. The disease was first described in 1998 and later genetically characterized in 2005 ozand et al. Biotinresponsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. 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 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. 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.
Some researchers named it as thiamine metabolism dysfunction syndrome2. A number of conditions, including inborn errors of metabolism, can cause lesions involving the basal ganglia and result in neurological disorders that affect movement. It is a neurometabolic syndrome which was first described on 1988. Biotinresponsive basal ganglia disease should be renamed biotinthiamineresponsive basal ganglia disease. Biotinthiamineresponsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. Biotinthiamineresponsive basal ganglia disease btbgd may present in childhood, early infancy, or adulthood. 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. 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. 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. Biotin responsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder. Misdiagnosis of basal ganglia disease, biotinresponsive.
Biotinresponsive basal ganglia disease new york clients tests displaying the status new york approved. Basal ganglia disease an overview sciencedirect topics. It affects a part of the nervous system that controls movement. All patients underwent a detailed medical history and clinical. Alfadhel m, almuntashri m, jadah rh, bashiri fa, al rifai mt, al shalaan h, al balwi m, al rumayan a, eyaid w, altwaijri w. Pdf biotinthiamineresponsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as. Brain 1998, 121, 12671279 biotinresponsive basal ganglia. 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. Uses, side effects, interactions, dosage, and warning. Test biotinthiamineresponsive basal ganglia disease. Among 82 patients, only one was diagnosed with biotin responsive basal ganglia disease ctga database editors note. 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. Biotinthiamineresponsive basal ganglia disease is a rare condition that.
Sir, biotin thiamine responsive basal ganglia disease btrbgd is a rare genetic disorderwhich may be misdiagnosed due to lack of awareness. Fulltext pdf mild encephalopathy with reversible splenial lesion. Biotinresponsive basal ganglia disease bbgd is an autosomalrecessive disease, which presents as confusions, dysarthria, dysphagia and external ophthalmoplegia. Only few cases have been reported earlier in literature. Treatment of biotin responsive basal ganglia disease. Biotin linus pauling institute oregon state university.
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. The parents in all cases were consanguineous, being first cousins in 7 of the 10. Jun 06, 20 biotin responsive basal ganglia disease bbgd, also known as thiamine metabolism dysfunction syndrome2 thmd2 mim. 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 is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. A case report of biotinthiamineresponsive basal ganglia. Biotin thiamine responsive basal ganglia disease is a rare disorder, and clinical sensitivity cannot yet be estimated. Genetic testing detected a pathogenic homozygous c. Biotinthiamineresponsive basal ganglia disease genetics. Biotinresponsive basal ganglia disease is a treatable underdiagnosed disease. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. Identification of a pyruvate peak on brain spectroscopy, novel mutation in slc19a3, and calculation of prevalence based on allele frequencies from aggregated next. Biotinthiamineresponsive basal ganglia disease btbgd is a rare treatable autosomal recessive neurometabolic disorder characterized by.
Biotin thiamineresponsive basal ganglia disease btrbgd is a neurometabolic autosomal recessive ar disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disorder presents with varied neurological manifestations, early identification and treatment of which prevents the associated mortality and morbidity. 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. Disease onset can occur anytime between infancy and adulthood, with the preponderance of cases showing childhood onset. Biotinresponsive basal ganglia disease bbgd basal ganglia are neurons deep within the brain which control movement. Btbgd represents a clinical spectrum of disorders resulting from loss of the neuronal thiamine transporter hthtr2. 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. Treatment of biotinresponsive basal ganglia disease. The clinical features appear around three to four years of age and include subacute encephalopathy confusion, drowsiness, and altered level of consciousness, ataxia. 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. Biotinresponsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder. Basal ganglia disease, biotinresponsive listed as bbgd. It can lead to involuntary tensing of muscles, muscle. We analyzed the data for demographic and clinical features, genetic and neuroradiologic findings, and treatment efficacy.
Biotinresponsive basal ganglia disease should be renamed biotin. Biotinthiamineresponsive basal ganglia disease btbgd is a neurological disorder characterized by encephalopathy and neurological decline. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Biotin thiamin responsive basal ganglia disease in siblings. 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. To investigate the clinical, genetic, and neuroradiologic data of biotinresponsive basal ganglia disease bbgd and clarify the disease spectrum. Biotin responsive basal ganglia disease bbgd is an autosomal recessive disorder, which is caused by mutations in the slc19a3 gene. Research open access biotinresponsive basal ganglia. Basal ganglia disease, biotinresponsive how is basal ganglia disease, biotinresponsive abbreviated. 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. Biotin and thiamine responsive basal ganglia disease a. 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.