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Non-traumatic compression fractures of the thoracic spine following a seizure -- treatment by percutaneous kyphoplasty.

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Prijava / prijava

A 26-year-old male presented with acute mid-thoracic back pain following a witnessed grand mal seizure. There was no trauma and the patient was on steroids for systemic lupus erythematosus. X-rays and CT scans of the thoracic spine revealed compression fractures at T5 and T6, with 50 % loss of

Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder.

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BACKGROUND Basal ganglia calcification (BGC) is a rare sporadic or hereditary central nervous system (CNS) abnormality, characterized by symmetric or asymmetric calcification of the basal ganglia. CASE REPORT We report the case of a 65-year-old Gypsy female who was admitted for a tetanic seizure,

Thoracic myelopathy secondary to seizure following scoliosis surgery.

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Prijava / prijava

The incidence of spinal injuries is increased in people with epilepsy although compressive thoracic myelopathy has not been reported. We describe a 15-year-old girl with SCN1A mutation (Dravet syndrome), refractory generalized tonic-clonic seizures, and prior posterior instrumentation and fusion for

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.

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Prijava / prijava

Deletions of 20p are rare with the majority of reported cases involving individuals with 20p12 deletions associated with Alagille syndrome. We report on a child with a de novo mosaic 20p11 deletion who presents with panhypopituitarism; hypoplastic pituitary gland and ectopic posterior pituitary

Seizure-induced lumbar burst fracture.

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METHODS This case report illustrates how muscle forces generated during generalized seizure activity can result in severe musculoskeletal trauma. A case is presented of a 35-year-old man who suffered seizure-induced contiguous L1 and L2 lumbar burst fractures. BACKGROUND To the authors' knowledge,

Trisomy of the short arm of chromosome 4: the changing phenotype with age.

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In this paper the authors describe three patients with trisomy of the short arm of chromosome 4 with special attention to the striking phenotypic changes with age. When they get older the round face with chubby cheeks, deeply-set eyes and broad and flat nasal root with a bulbous nose tip becomes

Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers.

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Prijava / prijava

To describe the development of clinical signs (CS) and outcome of L-2-hydroxyglutaric aciduria (L-2-HGA), owners of 119 Staffordshire bull terriers positive for the known L-2-hydroxyglutarate dehydrogenase autosomal-recessive mutations were requested to complete a questionnaire regarding their pet's

[Complications of selective posterior rhizotomy for lower limb spasticity of cerebral palsy].

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Prijava / prijava

OBJECTIVE To investigate the complications of spastic cerebral palsy with selective posterior rhizotomy (SPR). METHODS In the study, 2 593 patients who had undergone SPR from January 2000 to September 2012 were followed-up for at least one year. The complications were

Absence epileptic activity in Wistar Albino Glaxo Rijswijk rat mothers.

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Prijava / prijava

Absence epileptic activity was analyzed during pregnancy, the postpartum period and after weaning to establish alterations of seizures throughout the reproductive cycle. Wistar Albino Glaxo Rijswijk (WAG/Rij) rats were used in the study as a model of absence epilepsy and because their seizures do

Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.

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We describe 3 moderately to severely mentally retarded males (2 brothers and 1 isolated patient) with congenital deafness due to an anatomical inner ear anomaly, the same manifestations that were present in the 4 sibs reported by Fountain [1974]: skeletal abnormalities with broad, stubby hands and

[Case report of a boy with Prader-Willi syndrome and focal epilepsy].

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Prijava / prijava

An 11-old boy with Prader-Willi syndrome and partial epilepsy was reported. Muscular hypotonia in early infancy was extreme and developmental milestones were retarded, especially walk and speech. He achieved these landmarks within three years. The first seizure disorder was seen in the 9th year. The

Outcome of early-treated type III Gaucher disease patients.

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Prijava / prijava

Recombinant human acid β-glucosidase GBA (rhGBA) infusion is an effective therapy for non-neuropathic (type I) Gaucher disease (GD), but its effect on subacute neuropathic (type III) GD is still controversial. The most common genotype for type III GD is homozygous c.1448T>C (p.L444P) mutation, and

[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].

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OBJECTIVE Rett syndrome (RTT) is a neurodevelopmental disorder which causes severe mental retardation. This study aimed at elucidating clinical features of 66 Chinese RTT cases diagnosed by The Department of Pediatric Neurology, Peking University First Hospital since 1987, and at analysis of the

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

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Prijava / prijava

Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies. The syndrome was

Behavioural and electrocortical spectrum power changes after intraventricular injection of patulin in rats.

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Prijava / prijava

The effects of patulin when given into the third cerebral ventricle of rats, on behaviour and electrocortical spectrum power have been investigated. Patulin (10 micrograms i.v.t.) produced behavioural sedation, hypoalgesia, tail rigidity, piloerection and postural changes. This symptomatology lasted

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