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basal ganglia diseases/ataque epiléptico
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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
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MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen
An X-linked recessive basal ganglia disorder with mental retardation.
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We report a previously apparently undescribed, X-linked recessive basal ganglia disorder segregating in three generations of one family. The affected patients were variably mentally retarded, although some showed strengths in oral reading and memory. Most affected males had frontal bossing and
Biotin-Thiamine-Responsive Basal Ganglia Disease
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Clinical characteristics: Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. Prompt administration of biotin and thiamine early in the disease course results in partial
[Positron-emission tomography (PET) in epilepsy and extrapyramidal disorders].
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Epilepsy means are frequent neurologic disorders caused by abnormal electric cerebral discharges of diverse origins. While most epileptic patients experience satisfactory suppression of seizures by drug regimens, a substantial number requires a neurosurgical intervention for improvement. This is
Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease
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Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics.
Up-regulation of trkB mRNA expression in the rat striatum after seizures.
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The present study investigates the expression of a tyrosine kinase receptor (trkB), its specific ligands brain-derived neurotrophic factor (BDNF) and neurotrophin-4 (NT-4) mRNAs in the striatum after seizures. The result showed an increase of trkB mRNA expression, both with and without tyrosine
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
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Mutations in the gene SLC19A3 result in thiamine metabolism dysfunction syndrome 2, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD). This neurometabolic disease typically presents in early childhood with progressive neurodegeneration, including confusion, seizures, and
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?
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BACKGROUND
Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a neurometabolic autosomal recessive (AR) disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The disease is completely reversible if treated early with biotin and thiamine,
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.
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OBJECTIVE
To investigate the clinical, genetic, and neuroradiologic data of biotin-responsive basal ganglia disease (BBGD) and clarify the disease spectrum.
METHODS
We first investigated all patients attending our Division of Pediatric Neurology with a genetically proven diagnosis of BBGD between
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
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Değerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turk J Pediatr 2019; 61: 261-266. Biotin-thiamine-responsive basal ganglia disease is characterized by seizures, dystonia and encephalopathy attacks, with an
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
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BACKGROUND
Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.
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BACKGROUND
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures.
METHODS
We diagnosed a family
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
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BACKGROUND
Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. 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
Uncommon neurologic complications of burns in infants: a parkinsonian extrapyramidal disorder and massive cerebral infarction.
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We report uncommon neurologic complications of moderate to severe burns in two infants aged 13 and 19 months, respectively. The first patient suffered a 25% total body surface area burn to her lower limbs; 3 days later she became mute and irritable, with increasing rigidity of limbs and trunk. Her
[Extrapyramidal disorders occurring after taking cerucal].
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The authors report data of the literature and own data of side effects developing after intake of small cerucal doses. Described are the clinical symptoms, characterized by tonic spasm of the musculature and tongue, tonic convulsion of the upward gaze with simultaneous throwing back of the head.
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