Cytogenetics of the tissue involved in neural tube defects.

Cytogenetic techniques were used to study the tissue involved in neural tube defects. Eighteen patients have been evaluated and no specific alterations have been detected. We conclude that, whatever are the mechanisms that lead to neural tube defect, their origins must be searched for at the molecular level.

[The Bartter-like syndrome in 2 twins]. / Sindrome Bartter-like in due gemelli.

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.

[Juvenile fibromyalgia syndrome: 2 clinical cases]. / Sindrome fibromialgica giovanile: due casi clinici.

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).