[Malignant arterial hypertension disclosing late congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency].

17 alpha-hydroxylase deficiency is a rare form of congenital abnormality in steroid synthesis, usually associated with moderate arterial hypertension and suppression of the renin-angiotensin system in a young adult. We report on a 45 years old woman with malignant hypertension (220/135 mmHg, severe retinopathy with papilledema, progressive renal insufficiency with serum creatinine over 300 mumol/l) of recent onset. Biological exploration revealed a metabolic alkalosis, a moderate hypokalemia (3 mmol/l), with elevated urinary excretion of potassium.

Human 67-kDa calelectrin contains a duplication of four repeats found in 35-kDa lipocortins.

The 67-kDa calelectrin is the largest member of a family of Ca2+-binding proteins that associate with membranes and phospholipids in a Ca2+-dependent manner. Oligonucleotide probes based on peptide sequences obtained from purified bovine 67-kDa calelectrin were used to screen a human retina cDNA library, and the complete primary structure of human 67-kDa calelectrin was deduced by DNA sequence analysis. The protein consists of eight 68-amino acid repeats separated by linking sequences of variable lengths.

[Hemangioblastoma of the cerebellum, bulbo-spinal cord syringomyelia and bilateral pheochromocytoma].

A probable diagnosis of an incomplete form of von Hippel Lindau disease was made in a case of combined cerebellar hemangioblastoma, pontobulbar cavitation and bilateral pheochromocytoma. A survey of the literature review found only 3 similar cases among 64 patients reported as having combined lesions. A wide variety of lesions are in fact encountered.