11 beta-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial Hypertension. Diagnosis and therapeutic approach in two young brothers.

We report the clinical history and results of endocrine investigations in two brothers born to consanguineous parents, who presented with hypokalemia and arterial hypertension when they were aged 2 and 6 years. The hormonal serum assay results, including extremely low values for aldosterone and plasma renin activity, favored the existence of apparent mineralocorticoid excess. A diagnosis of 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) deficiency was made, based on assays of the hydrogenated urinary metabolites of cortisol and cortisone, as well as of corticosterone and dehydrocorticosterone.

[3 recent cases of Noonan's syndrome].

In the present state of our knowledge of cytogenetics, it seems logical to distinguish Noonan's syndrome from Turner's syndrome, thanks to the following arguments: Althought there are minor differences in the morphotype, the small size and the mental retardation are the same in both cases. However there are two lines of evidence: The first, inconstant, concerns the lesser intensity of the gonad changes, especially in the female sex, explaining the relative frequency of the familial forms of the syndrome, of Noonan, which are then trasmitted as autosomic dominants with variable penetrance. The second, constant and formal until now, concern the chromosome abnormalities.

[Alcoholic coma by accidental poisoning in children].

Among comas of toxic origin, in children, alcoholic coma due to accidental poisoning is uncommon compared with comas due to drugs or household products. It is however important to make an early diagnosis, for this is a severe from of poisoning, liable to cause irreversible cerebral lesions if not treated very quickly. It almost always causes a flask coma, without localising signs, hypothermia and hypoglycemia, but hypoglycemic comas are not always of alcoholic origin, and only measurement of blood alcohol gives a definite diagnosis.