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muscle hypotonia/cefaleia

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Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).

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Activating mutations in AVPR2 are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include hypotonia, irritability, vomiting and/or seizures.

Rod bipolar cell dysfunction in POLG retinopathy

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Objective: To report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). Methods:

[Childhood periodic syndromes and their long-term development].

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The long term development of periodic syndromes among children is little known. Our research has revealed that about one third of periodic headaches, two thirds of cyclic vomiting and half the cases of recurring abdominal pain disappear either before puberty or during adolescence. Other Authors have

Neurological involvement in patients with falciparum malaria; frequency and prognostic value.

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OBJECTIVE The objective of this study was to evaluate the prognostic significance of neurological manifestations in falciparum malaria. METHODS We analyzed adult patients with malaria admitted from 2001 to 2003, diagnosed by asexual forms of Plasmodium falciparum in peripheral blood films and

[Acute cerebellar ataxia in a 5-year-old boy. Clinical warnings].

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A case of acute cerebellar ataxia caused by ECHO virus 30.5-year-old boy admitted to the Clinic of Gastroenterology and Nutrition in Warsaw, in September, 1996, complaining of headache, dizziness, weakness, somnolence, dysarthria and an unsteady walk. On neurological examination he had imparied

[An association between moya-moya disease and morning glory anomaly].

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BACKGROUND The morning glory disc anomaly is a not very frequent congenital alteration of the optic papilla associated with a retinal vascular dysgenesia. Several cases of association have been described between this disc anomaly and the presence of Moyamoya vessels. We report the case of a boy with

Nipah encephalitis outbreak in Malaysia.

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BACKGROUND Between September 1998 and June 1999, there was a severe outbreak of viral encephalitis among the pig farm workers in Malaysia. METHODS This is a review of the published literature related to the outbreak with the focus on human diseases. RESULTS The encephalitis was caused by a newly

Thyroid Storm, a Mimicker of Guillain-Barre Syndrome: A Case Report

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A 60-year-old woman with diabetes mellitus presented to the emergency department (ER) with complaints of lower limb weakness, preceded by diarrhea. She complained of sweating and palpitations. There was no fever, cough, trauma, seizures, or headache. There was global weakness in all four limbs with

Sydenham chorea: clinical and laboratory findings. Analysis of 187 cases.

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Sydenham's chorea (chorea minor, St. Vitus dance, rheumatic encephalitis), described by Thomas Sydenham in 1686, is considered one of the major manifestations of rheumatic fever (1, 2, 3, 4). Clinically it is characterized by involuntary movements, hypotonia, dysarthria, emotional disorders, and

Southern California neuroinvasive West Nile virus case series.

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Approximately 80% of individuals infected with West Nile virus (WNV) are asymptomatic, and less than 1% suffer from neuroinvasion that can result in permanent neurological deficits or mortality. Our institution's location in southern California predisposes it to a sizable case volume of

Re-emergence Nipah - a review.

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There was an outbreak of new emergence viral encephalitis caused by Nipah virus among humans in some areas of Bangladesh during 2001 - till to date. The disease affected mainly the young, had increased suspicion to spread from bat to man through eating of the same fruits. The risk of human-to-human

Osmotic demyelination syndrome in a patient with Noonan syndrome and anterior hypopituitarism

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Summary: Severe hyponatremia and osmotic demyelination syndrome (ODS) are opposite ends of a spectrum of emergency disorders related to sodium concentrations. Management of severe hyponatremia is challenging because of the difficulty in

[Ischemic stroke due to isolated spontaneous posterior cerebral artery dissection in young adults].

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Twelve patients (9 women, 3 men, mean age 26.8 +/- 5.02 years) with spontaneous isolated dissection of posterior cerebral artery (PCA) were studied. Eleven patients (92%) developed ischemic stroke, 1 patient (8%)--transient ischemic attack (TIA). All patients underwent magnetic resonance imaging

[Catatonia de novo, report on a case: immediate vital prognosis and psychiatric prognosis in longer term].

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We report on the case of a 20 year old woman with no previous psychiatric history, who displayed a first episode of catatonia with acute onset. Symptoms started plainly with sudden general impairment, intense asthenia, headache, abdominal pain and confusion. After 48 hours, the patient was first
OBJECTIVE To compare the efficiency of selective alpha1-blocker and behavioural therapy in the treatment of detrusor-sphincter discoordination in children. METHODS Prospective, randomized study, approval of Ethics Committee, group of 60 children, age: 5 to 17, detrusor-sphincter discoordination. All
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