pelizaeus-merzbacher disease/illamående

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Potential role of PMD-TCD monitoring in the management of hemodynamically unstable intracranial stenosis.

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A 54-year-old woman started to loose vision 2 days prior to admission and also experienced left-sided headache, nausea, emesis, and disorientation. Magnetic resonance imaging (MRI) revealed bilateral posterior cerebral artery and cerebellar infarctions. Transcranial power motion Doppler (PMD-TCD)

[Genetic aspects of migraine].

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Migraine is a common disease characterized by severe headache with nausea, vomiting and hypersensitivity to sounds, light, smell. Neurological symptoms during aura period develop in 25% of patients. Genes responsible for migraine development have been identified. The mutations in familial hemiplegic

[MNGIE syndrome in 2 siblings].

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Two siblings (one man, one woman), presenting with diarrhea, severe weight loss peripheral neuropathy, ophthalmoparesis, asymptomatic leukoencephalopathy were diagnosed as a new cases of Mitochondrial Neuro Gastro Intestinal Encephalomyopathy syndrome (MNGIE). Hirano (1994) defined four criteria for

Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl.

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Alexander disease is a rare form of leukodystrophy with a highly variable clinical course. Occasionally night-time nausea and vomiting are the first symptoms of juvenile Alexander disease. A 7-year-old girl had recurrent night-time vomiting and her growth and weight gain had deteriorated after her

A review of pediatric palliative care service utilization in children with a progressive neuromuscular disease who died on a palliative care program.

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Recent studies and consensus statements have expressed the need to involve palliative care services in the care of children with progressive neuromuscular diseases (PMD), yet there have been no reviews of the utilization of palliative care services by children who died on a palliative care program.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.

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We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy,

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