It usually presents with encephalopathy and dystonia. Case report and follow up of a patient with poor compliance. Neuroimaging features before and after treatment, american journal of neuroradiology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for biotinthiamine responsive. Differential diagnosis for bilateral abnormalities of the. Symptoms of basal ganglia disease, biotinresponsive. Biotin thiamine responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The neurobiology and genetics of attentiondeficithyperactivity disorder adhd. 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 including 8 medical symptoms and signs of basal ganglia disease, biotinresponsive, alternative diagnoses, misdiagnosis, and correct diagnosis for basal ganglia disease, biotinresponsive signs or basal ganglia disease, biotinresponsive symptoms. 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 genetic. Basal ganglia disease, biotinresponsive listed as bbgd. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional.
Biotin thiamine responsive basal ganglia disease btrbgd is a rare genetic disorderwhich may be. All patients underwent a detailed medical history and clinical examination. Citescore values are based on citation counts in a given year e. Biotinthiamineresponsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal. Basal ganglia disease an overview sciencedirect topics. While their exact motor function is still debated, the basal ganglia clearly regulate movement. Please note, for carriertargeted variant tests the approval status depends on whether the gene is in an approved genedx. Among 82 patients, only one was diagnosed with biotin responsive basal ganglia disease ctga database editors note. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia. However, treatment of these patients with both biotin and thiamine resulted in complete absence of acute crisis. Conclusion this study demonstrates that biotinresponsive basal ganglia disease is a panethnic condition. Biotinresponsive basal ganglia disease bbgd is an autosomal. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.
Many brain disorders are associated with basal ganglia dysfunction. Biotinresponsive basal ganglia disease bbgd is a recessive disorder with. We report a case of biotinresponsive basal ganglia disease with similarities and differences compared to the previously reported cases by ozand et al. Patients with bbgd have bilateral necrosis in the head of. If left untreated with biotin, the disease can progress to severe quadriparesis and even death.
Biotinresponsive basal ganglia disease revisited neurology. A defect in biotin transport has been reported in a single child. Her older sister had the disease but she died from a viral infection before she was diagnosed. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Basal ganglia disease, biotinresponsive how is basal ganglia disease, biotinresponsive abbreviated. Research open access biotinresponsive basal ganglia. 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. Since biotin alone could not prevent the recurrence of crises in some. It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. Biotinresponsive basal ganglia disease maps to 2q36.
These symptoms disappear within a few days if biotin 510 mgkgday is. The basal ganglia and thalamus are paired deep gray matter structures that may be involved by a wide variety of disease entities. A wide spectrum of clinical and brain mri findings in. Basal ganglia disease, biotinresponsive how is basal. Homozygous or compound heterozygous mutations in slc19a3 cause two distinct clinical phenotypes, biotinresponsive basal ganglia disease and wernickeslike encephalopathy. 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. Research indicates that increased output of the basal ganglia inhibits thalamocortical projection neurons. Subramanian vs, marchant js, said hm 2006 biotinresponsive basal ganglia diseaselinked mutations inhibit thiamine transport via hthtr2.
Bbgd typically causes subacute episodes with encephalopathy and subsequent neurological deterioration. Biotinthiamineresponsive basal ganglia disease btbgd is a neurological disorder characterized by encephalopathy and neurological decline. Early diagnosis and treatment of this disorder results in good clinical recovery in childhood. We describe a novel, biotinresponsive basal ganglia disease in 10 patients. Slc19a3 solute carrier family 19, member 3 is a thiamin transporter with 12 transmembrane domains. To investigate the clinical, genetic, and neuroradiologic data of biotin responsive basal ganglia disease bbgd and clarify the disease spectrum. Pdf biotinthiamineresponsive basal ganglia disease btbgd is. Since biotin alone could not prevent the recurrence of crises in some patients, a more appropriate term to describe the disease would be biotinthiamineresponsive basal ganglia disease btbgd. Basal ganglia stroke muhammad asim rana mbbs, mrcp, edic, sfccm, frcpe 2. So, for example, authors bubshait et al, 2016 indicate that in biotinresponsive basal ganglia disease bbgd damage of basal ganglia and caudate nucleus may be the cause of depression later in.
We conducted on the detailed clinical, brain mri and. Biotinresponsive basal ganglia disease bbgd is an autosomal recessive disorder, which is caused by mutations in the slc19a3 gene. Objectiveto report the first 2 european cases of biotinresponsive basal ganglia disease and novel slc19a3 mutations. The basal ganglia play a similar role in movement generation. Please remove adblock adverts are the main source of revenue for dovemed. Abstract biotinresponsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. Mutations in this gene cause biotinresponsive basal ganglia disease bbgd. Learn indepth information on biotinthiamineresponsive basal ganglia disease, its causes, symptoms, diagnosis, complications, treatment, prevention, and prognosis. The neurobiology and genetics of attentiondeficit hyperactivity disorder adhd. Biotinresponsive basal ganglia disease should be renamed biotin. Biotin thiamine responsive basal ganglia disease is a devastating autosomal recessive inherited neurological disorder. Disease onset can occur anytime between infancy and adulthood, with the preponderance of cases showing childhood onset. Invitae biotinthiamineresponsive basal ganglia disease.
Biotin responsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder. 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. Basal ganglia diseases definition of basal ganglia. Biotinresponsive basal ganglia disease should be renamed. Misdiagnosis of basal ganglia disease, biotinresponsive. The disorder presents with varied neurological manifestations, early identification and treatment of. The basal ganglia are highly metabolically active and are symmetrically affected in toxic poisoning, metabolic abnormalities, and neurodegeneration with brain iron accumulation. Biotin andor thiamin are effective therapies for both diseases.
Biotinthiamineresponsive basal ganglia disease genetics home. I have a two and a half year old daughter diagnosed with biotin thiamine responsive basal ganglia disease one week before she was born. A therapeutic trial with high doses of biotin and thiamine seems mandatory in every unexplained encephalopathy with bilateral lesions of putamen and caudate nuclei. As its name suggests, the condition may improve if. Biotin responsive basal ganglia disease bbgd, is a potentially treatable inherited metabolic disorder which clinically presents as subacute encephalopathy in children. What are basal ganglia the basal ganglia or basal nuclei are group of subcortical nuclei located at the base of the forebrain. Presenting neurological signs in acute crisis of biotinresponsive basal ganglia disease patient 1 in. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for biotinthiamineresponsive. Biotinthiamineresponsive basal ganglia disease btbgd is a highly variable neurological condition with a wide clinical spectrum. Biotinresponsive basal ganglia disease bbgd was first described by ozand et al in 10 patients of arab ancestry in 1998. Biotinresponsive basal ganglia disease definition of. My younger daughter is responding to the treatment of high dosage of biotin and thiamine, and she looks great. 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. Biotinthiamineresponsive basal ganglia disease is a devastating autosomal recessive inherited neurological disorder.
Presenting neurological signs in acute crisis of biotin responsive basal ganglia disease patient 1 in. Depression in adult patients with biotin responsive basal. We analyzed the data for demographic and clinical features, genetic and neuroradiologic findings, and treatment efficacy. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Dystonia muscle tone problems huntington disease disorder in which nerve cells in certain parts of the brain waste away, or degenerate multiple system atrophy widespread nervous system disorder parkinson disease. They are significantly united with the cerebral cortex, thalamus, and brainstem. No pattern of diffusion restriction on diffusionweighted images or significant contrast enhancement was detected. Biotinthiamineresponsive basal ganglia disease genetic and.
The basal ganglia normally exert a constant inhibitory influence on thalamic regions that excite the premotor and motor cortex, preventing them from becoming active at inappropriate times. Basal ganglia disease is a group of physical problems that occur when the group of nuclei in the brain known as the basal ganglia fail to properly suppress unwanted movements or to properly prime upper motor neuron circuits to initiate motor function. Without information from the basal ganglia, the cortex is unable to properly direct motor control, and the deficits seen in parkinsons and huntingtons disease and related movement disorders become apparent. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days. Biotinresponsive basal ganglia disease in ethnic europeans with. Diagnosis of biotinthiamineresponsive basal ganglia disease by.
Both biotin and thiamine are essential for disease management. Btbgd represents a clinical spectrum of disorders resulting from loss of the neuronal thiamine transporter hthtr2. Biotin thiamine responsive basal ganglia disease btrbgd is a rare genetic disorderwhich may be misdiagnosed due to lack of awareness regarding its existence. These alternate diagnoses of basal ganglia disease. Biotinresponsive basal ganglia disease, also known as thiamine metabolism dysfunction syndrome2, 41 was first described in 1998. All patients diagnosed to date are of saudi, syrian, or yemeni ancestry, and all. 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. Biotinresponsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. Therefore, they propose to rename bbgd to btbgd biotinthiamineresponsive basal ganglia disease as the addition of thiamine is clearly essential. Biotinresponsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder. Pdf we describe a novel, biotinresponsive basal ganglia disease in 10 patients.
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