Literature DB >> 1589138

[Familial Mediterranean fever and electroencephalographic changes. A clinical case].

N Gentiloni1, N Gabbrielli, P Caradonna, D Schiavino, M Anti, M David, G Segni, G Gambassi.   

Abstract

The Authors describe the case of a non-Hebrew Italian girl suffering from short-lasting fever episodes, associated with abdominal colic, since the age of 3. The occurrence of acute arthrosynovitis during the last episode, at 12 years of age, clinically confirms the diagnosis of familial mediterranean fever, as previously supposed. The increase in urinary coproporphyrins, with normal values of delta-aminolevulinic acid and porphobilinogen poses the problem of the differential diagnosis between hereditary coproporphyria and secondary coproporphinuria. The importance of this case lies in the presence of electroencephalographic alteration since the first years of life, suggesting a temporal epilepsy for which the patient was at length submitted to anti-epileptic treatment. Electroencephalographic alterations, of different type and uneasy interpretation, are described in the literature with a frequency which does not seem accidental. Renal biopsy does not show amyloid, nor the RMN reveals cerebral abnormalities. The anti-epileptic therapy being withdrawn, the patient was treated with daily administrations of colchicine (1 mg/die); 18 months after, she is disease free.

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Year:  1992        PMID: 1589138

Source DB:  PubMed          Journal:  Minerva Med        ISSN: 0026-4806            Impact factor:   4.806


  3 in total

1.  Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

Authors:  I Aksentijevich; Y Torosyan; J Samuels; M Centola; E Pras; J J Chae; C Oddoux; G Wood; M P Azzaro; G Palumbo; R Giustolisi; M Pras; H Ostrer; D L Kastner
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

Review 2.  Non-canonical manifestations of familial Mediterranean fever: a changing paradigm.

Authors:  Donato Rigante; Giuseppe Lopalco; Giusyda Tarantino; Adele Compagnone; Michele Fastiggi; Luca Cantarini
Journal:  Clin Rheumatol       Date:  2015-03-13       Impact factor: 2.980

3.  Neurological Face of Familial Mediterranean Fever.

Authors:  Polat Cengiz Bektaş; Aslı Kavas Tufan; Nuran Çetin; Coşkun Yarar; Kürşat Bora Carman
Journal:  Turk Arch Pediatr       Date:  2022-09
  3 in total

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