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Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

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We have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers

Superior mesenteric artery syndrome in traumatic paraplegia: a case report and literature review.

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Superior mesenteric artery syndrome (SMAS) is a relatively rare condition thought to be caused by the functional obstruction of the third part of the duodenum as it passes between the superior mesenteric artery and the aorta. The following case report describes a patient who developed SMAS in the

A diagnostic challenge in a young woman with intractable hiccups and vomiting: a case of neuromyelitis optica.

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Intractable nausea and vomiting along with hiccups is a commonly encountered problem on any general medicine or gastroenterology service. These symptoms are usually not appreciated as the possible initial manifestation of neuromyelitis optica (NMO). Missing diagnosis at this early stage will lead to

Paraplegia following surgery for medulloblastoma in the posterior fossa.

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Postoperative paraplegia following non-spinal surgical procedures is very rare. We report a rare case of medulloblastoma in which paraplegia occurred after surgery. A 4-year-old boy suffered frequent vomiting and was found to have a tumour in the fourth ventricle associated with obstructive

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

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We have updated the clinical description of a large Scottish pedigree, in which patients were affected by spastic paraplegia complicated by hearing impairment and persistent vomiting due to hiatal hernia inherited as an autosomal dominant trait. Using a genome-wide mapping approach, we identified a

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.

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OBJECTIVE The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders, characterized by a progressive spasticity of the lower limbs. So far, 33 different loci (SPGs) have been mapped and the 15 genes responsible have been identified. We mapped a locus

[Herpetic simplex encephalitis followed by myelopathy].

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A 48-year-old male was admitted to our hospital because of fever, headache and vomiting. At admission, the level of consciousness was depressed (drowsy) with slight confusion. Extremely miotic pupils, nuchal stiffness, ataxia and myoclonic movements of both upper limbs were observed. The eye

Rare pathology leading to a diagnostic challenge: A subarachnoid spinal hematoma after catheter cryoablation for atrial fibrillation

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Catheter ablation for atrial fibrillation is associated with a low rate of complications, with few reports of intracranial hemorrhage in the literature. Additionally, subarachnoid hemorrhage with spinal hematoma is also an uncommon pathology with less than 200 total cases to date described. A

Sectional neuroanatomy of the lumbosacral spine (L1-S5).

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This paper will review the lumbosacral spine (L1-S5). Procedures performed in the lumbosacral spine include electromyography, spinal stimulator implants, spinal infusion implants for spasticity or pain medications, sacroiliac spine injections, facet blocks, and steroid injections. Complications from

Intramedullary Glioblastoma Multiforme of Spine with Intracranial Supratentorial Metastasis: Progressive Disease with a Multifocal Picture.

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Primary spinal glioblastoma multiforme (GBM) is very uncommon while an intramedullary spinal GBM with intracranial metastasis is rarely heard of. A 23-year-old male presented with bilateral paraplegia associated with bowel and bladder incontinence. Craniospinal radiograph showed an intramedullary

Severe Relapse After Cessation of Immunosuppressive Therapy in a Patient With Neuromyelitis Optica Spectrum Disorder.

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BACKGROUND The optimal duration of immunosuppressive therapy (IT) for neuromyelitis optica spectrum disorder (NMOSD) has not been established. Here, we report a case of severe relapse after early cessation of IT. METHODS A 32-year-old woman presented with a 2-week history of intractable vomiting and

[Methylmalonic acidemia with bilateral MRI high intensities of the globus pallidus].

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We report a patient with methylmalonic acidemia who developed an acute extrapyramidal disorder after severe ketoacidosis. The neurologic findings resulted from bilateral destruction of the globus pallidus. A 10-year-old girl was the term product of an uncomplicated pregnancy and delivery. Poor

Clinico-etiological profile of childhood stroke in a Tertiary Care Hospital in Eastern India.

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BACKGROUND The clinical pattern and etiology of stroke may vary over time or with geographical location. In Asian countries, specific etiology and outcome of childhood stroke have been rarely reported. OBJECTIVE To determine the clinical and etiological pattern of childhood stroke and their outcome

[Schistosomiasis of the central nervous system: report of a case].

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The neurological involvement in Manson's Schistosomiasis is rarely reported in the literature. The authors describe a case of a 23 years old patient born in São Francisco-MG. She presented with headache, vomiting, fever and stupor. The neurological examination showed stiffness of the neck, paresis

Extensive cutaneous metastases in a dog with duodenal adenocarcinoma.

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A 6-year-old Rottweiler was presented to the North Carolina State University College of Veterinary Medicine for evaluation of multiple cutaneous nodules. The dog had a history of anorexia, vomiting, and hind-limb paraplegia. Results of cytologic examination of the cutaneous nodules were consistent

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