[Reactive arthritis in children].
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Biomedical subjects
Publications and source records attributed to B Boudailliez.
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A prepubertal boy with hypopituitarism, mental retardation, dysmorphia and solitary maxillary central incisor is described, karyotypic studies showed deletion of the short arm of chromosome 18 (46, XY, del (18) (p11). It is suggested that caryotypic studies is of interest among the patients with midline defects and/or hypopituitarism.
Anterior panhypopituitarism has been observed in one of monozygous twin girls. Etiologic investigations were negative and only suggested an hypothetic perinatal insult. Genetic abnormalities could be excluded. Replacement therapy with human growth hormone was strikingly successful, with a remarkable catch-up growth and, however, a velocity of bone age comparable with the velocity of growth.
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Plasma testosterone was longitudinally studied during the first months of life in 7 XY infants with male pseudohermaphroditism. In two, the physiological postnatal rise of plasma testosterone was absent or blunted. A combined adrenal and testicular enzymatic defect was demonstrated in these two boys. In 5, a normal postnatal testosterone rise demonstrated a normal Leydig cell function. The longitudinal study of the physiologic postnatal rise of testosterone may be useful to distinguish secretory defects from responsiveness abnormalities thus improving the choice of gender in male pseudohermaphrodites.
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Impedance techniques can, in principle, permit non-invasive monitoring of extracellular (Ve) and intracellular (Vi) fluid volumes during dialysis. The authors present a method that determines the resistances Re and Ri of extracellular and intracellular compartments, respectively, by extrapolating impedance measurement toward zero, as well as infinite frequencies, according to the Cole-Cole model of biologic issues. These measurements were made using a XITRON 4000 B impedance meter (Xitron Technologies Inc., San Diego, CA) at frequencies ranging from 5 kHz to 1 MHz. The fact that the body is not a cylindric, homogeneous conductor is taken into account by introducing shape factors ke and ki and different resistivities pe and pi for the extracellular and intracellular fluid compartments. Assuming that these four unknown parameters can be regarded as constant during dialysis, the authors obtain: [formula: see text] where subscript o denotes initial values at start of dialysis. Impedances were measured at 30 min intervals on 11 pediatric patients and two adults, whereas total body water volume was determined by measuring urea in collected dialysate. Without ultrafiltration, Ve and Vi do not change significantly in percentage whereas, in the presence of ultrafiltration, Ve decreased by 15% to 25%. In cases when Vi does not change, it is possible to determine Ve and its variation during dialysis.
An atrophy of villi without digestive troubles is found in a 3 1/2 years old boy with a typical Duhring's disease. This observation proves the interest to research an enteropathy in case of dermatitis herpetiformis, and on the other hand the gluten free diet's efficacity on the cutaneous lesions. The authors consider cutaneous lesions's pathogeny and the antigenic relations between these two diseases.
Bilateral adrenal haemorrhage was diagnosed in 3 newborns. Clinical, biological and hormonal features were different in each case: abdominal mass in the first case; hyponatremic dehydration for the two others. This hyponatremic dehydration was related to temporary acute adrenal insufficiency for one newborn while association with medullary necrosis did not allow to assert hypoadrenalism for the other. These three cases emphasize: 1) variability of presentation at onset; 2) heterogeneousness of salt loose syndrome; 3) interest of systematic renal and adrenal exploration in adrenal haemorrhage.