ataxia/i̇shal

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Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.

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Autosomal dominant episodic ataxia type 2 (EA2) results from mutations of the CACNA1A gene. We describe EA2 with unusual features in a father and daughter with a novel CACNA1A mutation coding for Y248C. Both patients showed severe cerebellar atrophy in MRI and clinical signs of progressive

Ataxia and secretory diarrhea: two unusual paraneoplastic syndromes occurring concurrently in the same patient with ganglioneuroblastoma.

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The presence of rare paraneoplastic syndromes, the opsoclonus-myoclonus-ataxia syndrome (OMA), presumably caused by antineuronal antibody production, and diarrhea, caused by vasoactive intestinal peptide (VIP) secreted by neuroblastoma, may strongly signal the presence of neuroblastoma. The authors

[Diarrhea, iron deficiency anemia, osteoporosis, ataxia: the many faces of sprue].

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A case of diarrhea, ataxia, and capsule endoscope retention.

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Polycranial neuropathy and sensory ataxia with IgG anti-GD1a antibody as a variant of Guillain-Barré syndrome.

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Immunoglobulin G (IgG) anti-GD1a ganglioside antibody is an important marker of Guillain-Barré syndrome (GBS). This antibody is highly associated with disease severity, the need for mechanical ventilation, and axonal degeneration of peripheral nerves. We report a 46-year-old female patient

Hypomyelination associated with bovine viral diarrhea virus type 2 infection in a longhorn calf.

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A newborn Longhorn heifer calf presented with generalized tremors, muscle fasciculations, ataxia, and nystagmus. At necropsy, no gross central nervous system lesions were observed. Histologically, the brain and spinal cord had mild to moderate diffuse microgliosis and astrocytosis, minimal

Acute cerebellar ataxia associated with enteric fever in a child: a case report.

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Enteric fever is a common infectious disease of the tropical world. Characteristic presenting features include fever, relative bradycardia, diarrhea or constipation, and abdominal pain. Central nervous system involvement is not rare and has a wide spectrum of presentation in enteric fever.

Bovine viral diarrhea virus-induced cerebellar disease in a calf.

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Bovine viral diarrhea virus (BVDV) was isolated from buffy coat cells of a 10-day-old calf with signs of cerebellar disease--ataxia, hypermetria, and intention head tremor. The tentative diagnosis was BVDV-induced cerebellar hypoplasia. At necropsy, gross lesions were not identified. Histologic

Ataxia, ophthalmoplegia, and impairment of consciousness in a 19-month-old American boy.

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A 19-month-old, white, Pennsylvanian boy, with an unremarkable medical history, presented to our hospital with a 3-week history of nonbloody, nonbilious emesis up to 5 times a day and nonbloody diarrhea. Ten days before admission, his gait became progressively unsteady, until he finally refused to

An unusual cause of adult onset cerebellar ataxia with hypogonadism.

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We report an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of

Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.

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Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with

Evidence for pelvic floor dyssynergia in patients with irritable bowel syndrome.

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OBJECTIVE Although functional constipation is known to often manifest concomitant features of pelvic floor dyssynergia, the nature of pelvic floor symptoms and anorectal dysfunction in non-diarrhea predominant irritable bowel syndrome is less clear. This study aims to compare anorectal sensorimotor

Autoimmune Ataxia During Maintenance Therapy for Acute Lymphoblastic Leukemia.

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Neurologic dysfunction during acute lymphoblastic leukemia treatment is commonly associated with chemotherapy. Nonchemotherapy contributions should be considered for persistent atypical symptoms. We describe a boy with acute lymphoblastic leukemia who developed recurrent fevers, diarrhea,

CD8(+)/perforin/granzyme B(+) effector cells infiltrating cerebellum and inferior olives in gluten ataxia.

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Up to 8% of patients with gluten sensitivity (GS) develop neurological symptoms such as ataxia, dementia, seizures or peripheral neuropathy. The underlying immunological mechanisms still remain to be elucidated. We here report the case of a 68-year-old male patient suffering from progressive ataxia

[A suspected case of alcoholic pellagra encephalopathy with marked response to niacin showing myoclonus and ataxia as chief complaints].

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We report a 47-year-old alcoholic man with alcoholic pellagra encephalopathy (APE) showing myoclonus and ataxia as chief complaints. He had been a heavy drinker for 30 years. He had noticed appetite loss and subsequently showed a subacutely progressive gait disturbance. He had no history of

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