porphyrias/cefalee

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[Clinical and laboratory findings concerning at first dietary and afterwards cimetidine treatment of acute intermittent porphyria].

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Clinical symptoms and laboratory findings were assessed in three women with acute intermittent porphyria. After 15 days of pharmacologic washout and free diet (time 0), the patients were give a well balanced normocaloric diet for 7 days (time 1), followed by 7 days of high carbohydrate normocaloric

An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete.

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Variegate porphyria (VP) is an autosomal dominant disorder of porphyrin metabolism. We report a case of a 21-year-old male collegiate athlete who complained of recurrent headache and fatigue. Extensive testing after initial presentation failed to identify a cause. Months later, his grandmother was

MR imaging of acute intermittent porphyria mimicking reversible posterior leukoencephalopathy syndrome.

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Reversible posterior leukoencephalopathy syndrome (PLS) is characterized by headache, altered mental function, visual disturbances and seizures. Neuroimaging studies suggest a white-matter oedema, predominantly in the posterior parietal-temporal-occipital regions of the brain. We present the case of

Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene.

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Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain

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Acute intermittent porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We

Posterior reversible encephalopathy syndrome in acute intermittent porphyria.

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BACKGROUND Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures,

Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report.

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Variegate porphyria (VP) is one of the groups of rare inherited disorders of hemoglobin synthesis called Porphyria. It has two distinct manifestations, that is, those of cutaneous and nervous system. Posterior reversible encephalopathy syndrome (PRES) is a rare complication of porphyria. It occurs

Porphyria or Catatonia: Diagnostic Dilemma on the Medical Wards.

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A 24-year-old Caucasian female, DD, was admitted to the medical service at an academic hospital with symptoms of weakness in bilateral lower extremities, falls, headaches, and altered mental status. Psychiatry was consulted to evaluate for psychiatric causes of her symptoms. This case presented a

The photosensitizing potential of compact fluorescent vs incandescent light bulbs.

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Recently an article about the new energy-saving compact fluorescent light (CFL) bulbs appeared in Parade magazine [Rosenfeld, I. (2008) Parade Feb 3, 22]. Under the heading "Bright Lights, Bad Headache?" the writer states that "new research suggests some dangers" involving these lights because they

Pseudoporphyria as a result of voriconazole use: a case report.

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Voriconazole, a second-generation triazole, has recently been approved by the Food and Drug Administration (FDA) to treat invasive aspergillosis and refractory infections with Scedosporium apiospermum or Fusarium spp. The reported side-effects of voriconazole include visual changes, headaches,

Myasthenia gravis during low-dose IFN-alpha therapy for chronic hepatitis C.

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We describe the case of a 56-year-old man who had high aminotransferase levels and anti-hepatitis C virus (HCV) antibodies. He underwent liver biopsy and biochemical screening to evaluate whether he would benefit from interferon (IFN) treatment. The patient was discharged with a diagnosis of

Recognition and Differential Diagnosis of Psychosis in Primary Care.

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Psychosis is a symptom complex that may include hallucinations, delusions, disorders of thought, and disorganized speech or behavior. Acute psychosis is primary if it is symptomatic of a psychiatric disorder, or secondary if caused by a specific medical condition. Patients with primary psychiatric

[Differential diagnosis and treatment of hyponatremia].

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Hyponatremia is one of the most common metabolic disorders in clinical medicine. The value of Na+ in serum equalling 135 mmol/ l and lower is regarded as hyponatremia. Its clinical manifestations are the following: headaches, nausea, vomiting, seizures, numbness, coma and death. Hyponatremia caused

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