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adrenoleukodystrophy/грозница

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8 резултати

Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis.

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We report the case of a 6-year-old boy with X-linked adrenoleukodystrophy (ALD). In view of the acute onset of vomiting, fever, and coma, encephalitis was initially suspected. However, brain magnetic resonance imaging demonstrated a pattern of demyelination that was consistent with ALD; this

[A case of adult type adrenoleukodystrophy with an acute onset and repeated episodes of ataxic dysarthria].

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We report a 30-year-old man with adult type adrenoleukodystrophy (ALD) who manifested an acute onset and repeated episodes of ataxic dysarthria. He noticed a moderate dysarthria after a high grade fever in February of 1995; however, two weeks later his symptom disappeared completely. Three months

A first case of adrenomyeloneuropathy with mutation Y174S of the adrenoleukodystrophy gene.

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The patient first noticed spasticity and weakness in his legs. He was diagnosed with chronic myelogenous leukemia (CML); the symptoms were attributed to neuropathy associated with CML. By treatment with dasatinib, he achieved complete hematological remission, but his difficulty in walking was not

Coma as an acute presentation of adrenoleukodystrophy.

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X-linked adrenoleukodystrophy is a metabolic disorder with broad clinical variations. A 4-year-old male admitted to the hospital with fever, hypotension, and coma as the presenting signs of adrenoleukodystrophy is reported. The initial presentation followed by rapidly developing disseminated

A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy.

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OBJECTIVE We report a novel presentation of childhood cerebral X-linked adrenoleukodystrophy: status epilepticus followed by abrupt and catastrophic neurologic deterioration. METHODS A description of the clinical presentation, laboratory evaluation, and imaging findings leading to a diagnosis of

[Clinical and biochemical studies in a case of acute encephalopathy associated with calcium hopanthenate administration].

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A case with acute disturbance of consciousness associated with calcium hopanthenate (HOPA) administration was reported. He was a 3-year-old boy with autistic developmental delay, had orally taken 1.5 g of HOPA daily for 3 months. Clinical manifestations consisted of fever, vomiting and coma.

Inflammatory pseudotumor of lymph nodes: a study of 25 cases with emphasis on morphological heterogeneity.

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The clinicopathological and immunohistochemical findings in 25 cases of inflammatory pseudotumor of lymph nodes (IPT) are presented. The patients were 13 women and 12 men between 8 and 81 years of age. Clinically, symptoms of prior infection, fatigue, abdominal pain, weight loss, fever of unknown

Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.

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Peroxisomal biogenesis disorders include Zellweger syndrome and milder phenotypes, such as neonatal adrenoleukodystrophy (NALD). Our previous study of a NALD patient with a marked deterioration by a fever revealed a mutation (Ile326Thr) within a SH3 domain of PEX13 protein (Pex13p), showing a
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