cystinosis/seizures

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A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis.

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We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours, he suffered complications of septic shock,

Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo.

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Certain aminothiols rapidly deplete cultured cystinotic skin fibroblasts of their abnormally high free (nonprotein) cystine pool. The free cystine content of these cells if reduced by over 90% in 1 h with 0.1 mM cysteamine. This is more rapid than previously known methods of removing free cystine

Nonabsorptive hydrocephalus associated with nephropathic cystinosis.

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A child with nephropathic cystinosis developed seizures and coma. CT showed prominent sulci and slight ventricular enlargement. Nuclear cisternogram was normal. Despite successful renal transplantation and treatment of hypothyroidism, neurologic recovery was poor. CT and nuclear cisternogram 5

Renal transplantation for infantile cystinosis: long-term follow-up.

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Renal transplantation for infantile cystinosis corrects renal failure and prolongs survival. However, after transplantation, the disease may develop in the allograft and continue to progress in nonrenal organs. We studied seven children (6 boys, 1 girl) with infantile cystinosis who received 11

Central nervous system complications in adult cystinosis patients.

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Little is known about the long-term progression of adult nephropathic cystinosis patients. Our objective was to study central nervous system complications in cystinosis patients in the era of early cysteamine treatment, using advanced neuroimaging techniques. Neurological examination and multimodal

Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features.

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BACKGROUND The Turkish Renal Tubular Disorders Working Group aimed to form a patient registry database and gathered demographic, clinical, and laboratory data in various hereditary renal tubular disorders (HRTDs). METHODS A questionnaire comprising HRTDs was sent to the centers. The cohort was

Incidence of death in patients with intractable epilepsy during nitrazepam treatment.

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OBJECTIVE Increased risk of death has been reported in patients with intractable epilepsy (IE) taking nitrazepam (NZP). METHODS Between January 1983 and March 1994, 302 patients with IE were entered into a NZP compassionate-plea protocol. NZP was discontinued if there was < 50% seizure reduction or

[Medicinal therapy for lysosomal storage diseases].

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Lysosomes contain several dozen different enzymes, mostly acid hydrolases. Materials not digested due to deficient lysosomal enzymes are usually large cellular molecules, which are deposited within the cells. The strategy for medicinal therapy of lysosomal storages disease may be to develop the

Preclinical and clinical studies with cysteamine and pantethine related to the central nervous system.

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1. Cysteamine is formed by degradation of coenzyme A (CoA) and causes somatostatin (SS), prolactin and noradrenaline depletion in the brain and peripheral tissues. 2. Cysteamine influences several behavioral processes, like active and passive avoidance behavior, open-field activity, kindled

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