[Cockayne syndrome. 3 cases].
Three cases of Cockayne's syndrome, observed in patients aged 10, 5 and 1 years are reported and discussed; skeletal X-ray findings are illustrated and analysed.
Bone and Bones↗
Biomedical subjects
G Ruffa
Publications and source records attributed to G Ruffa.
[High degree congenital atrioventricular block. Contribution of cases].
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Adolescent↗
[Cardiovascular manifestations of hyperthyroidism in children].
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Cardiomegaly↗
[Unusual complication of Schoenlein-Henoch syndrome: intestinal perforation].
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Child, Preschool↗
[Beckwith-Wiedemann syndrome. Presentation of 5 cases].
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Abnormalities, Multiple↗
[Treatment of complete congenital atrio-ventricular block in children. Results of the use of implanted pacemaker in 2 cases of Morgagni-Adams-Stokes syndrome].
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Adams-Stokes Syndrome↗
The heterogeneity of oral-facial-digital anomalies. Report of a case of Mohr syndrome.
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Abnormalities, Multiple↗
[Crouzon's syndrome. Description of a case treated surgically in the fifth month of life].
The authors describe a case of Crouzon syndrome, characterized by unusually early and serious symptoms, and surgically corrected during the fifth month of life, with good clinical and aesthetic results.
Craniofacial Dysostosis↗
[Behavior of the renin-aldosterone system in a case of pheochromocytoma].
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Adolescent↗
[The Bartter-like syndrome in 2 twins].
We present a case of two twins, admitted to our department at the age of 9 years and 9 months for poor stature-ponderal growth. Hematochemical tests showed hypokalemia, hypomagnesemia, metabolic alkalosis, renin increase, normal aldosterone values, hypocalciuria. Arterial pressure values were normal in both patients. Renal hypokalemia with metabolic alkalosis was hypothesized and therefore tubular functions during diuresis induced by intravenous 5% dextrose in water were evaluated and fractionated tubular resorption values of chlorides were identified. The two patients presented many characteristics typical of Bartter syndrome (suggestive facies, short stature, hypokalemia, metabolic alkalosis, renin increase, decreased chloride resorption) and of Gitelman syndrome (late onset, few symptoms, hypomagnesemia, hypocalciuria, normal renal concentration). The definition "Bartter-like syndrome" seems to be more suitable for these patients, since it can include all the clinical characteristics and biochemical anomalies observed.
Bartter Syndrome↗
[Juvenile fibromyalgia syndrome: 2 clinical cases].
We report two cases (F. 11 years, M. 7 years) with juvenile fibro-myalgic syndrome, diagnosed because of the presence of musculo-skeletal pain, tender points and associated symptoms, and after exclusion of any other known etiology. Both patients improved after treatment with antidepressant serotoninergic (amitriptyline, trazodone).
Child↗
[Echographic aspects of Caroli disease].
We describe a case of congenital non-obstructive dilatation of the hepatic bile ducts (Caroli disease). The accuracy of ultrasound for the diagnosis of this syndrome is pointed out. Ultrasound scan can be carried out easily and with a remarkable imaging precision. The ultrasonographic patterns consist of both evident dilatation of the ducts and characteristic protrusions connecting the ductal walls to intraluminal portal branches (bridging). These sonographic findings confirm the etiopathogenetic hypothesis according to which Caroli disease is a result of the blockage of the bile ducts development. Moreover, we underline the efficacy of ursodeoxycholic acid in the treatment of the chronic cholestasis, always present in this disease.
Bile Ducts, Intrahepatic↗