title: [Familial Mediterranean fever and electroencephalographic changes. A clinical case].
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 The anti-epileptic therapy being withdrawn, the patient was treated with daily administrations of colchicine (1 mg/die); 18 months after, she is disease free.
authors.affiliation: Istituto di Clinica Medica, Università Cattolica del Sacro Cuore, Roma.
authors.forename: N
authors.initials: N
authors.lastname: Gentiloni
authors.forename: N
authors.initials: N
authors.lastname: Gabbrielli
authors.forename: P
authors.initials: P
authors.lastname: Caradonna
authors.forename: D
authors.initials: D
authors.lastname: Schiavino
authors.forename: M
authors.initials: M
authors.lastname: Anti
authors.forename: M
authors.initials: M
authors.lastname: David
authors.forename: G
authors.initials: G
authors.lastname: Segni
authors.forename: G
authors.initials: G
authors.lastname: Gambassi
mesh_terms: D001669:Biochemical Phenomena; D001671:Biochemistry; D002648:Child; D003078:Colchicine / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004569:Electroencephalography; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000188:drug therapy / Q000378:metabolism; D005260:Female; D006801:Humans
chemical_list: D003078:Colchicine
vernacular_title: Febbre familiare mediterranea e alterazioni elettroencefalografiche. Caso clinico.