pelizaeus-merzbacher disease/vomiting

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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

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.

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Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM:

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)

Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies.

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A 14-year-old boy with mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease had a lifelong history of failure to thrive and gastrointestinal symptoms including vomiting, pain, and diarrhea, leading to progressive cachexia. At the age of 9 years, after an extensive workup, the diagnosis

[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

[Severe anorexia in infants in Reunion: a new autosomal recessive disease?].

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BACKGROUND Infantile anorexia is usually considered as a psychogenic disorder with benign prognosis. However, unusually severe characteristics of infantile anorexia, seen in the south of the island, seem to us in favor of a new metabolic etiology. METHODS Among 38 known cases, we retrospectively

[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

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.

[Acquired torticollis in hospitalized children].

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Torticollis results from various pathological mechanisms, and its elucidation depends on identifying diseases of musculoskeletal, neural and ocular tissues. This study characterized the underlying diseases of children hospitalized with torticollis, excluding congenital torticollis. Records of 36

Surveillance of diarrhoea in small animal practice through the Small Animal Veterinary Surveillance Network (SAVSNET).

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Using the Small Animal Veterinary Surveillance Network (SAVSNET), a national small animal disease-surveillance scheme, information on gastrointestinal disease was collected for a total of 76 days between 10 May 2010 and 8 August 2011 from 16,223 consultations (including data from 9115 individual

Menetrier disease and Cytomegalovirus infection in paediatric age: report of three cases and a review of the literature

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Paediatric Menetrier disease (PMD) is a protein-losing gastropathy, presenting with generalized oedema and abdominal symptoms. PMD commonly has an acute course and may be associated with Cytomegalovirus (CMV) infection. The aim of this retrospective study is to assess the epidemiological and

The medical benefit of 5-HT research.

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5-HT research is now more than 50 years old, and it has generated a wealth of therapeutic agents, some of which have had a major impact on disease management. The 5-HT reuptake inhibitors (SSRIs) are among the most widely prescribed drugs for treating depression and a variety of other disorders

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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