[The Griscelli-Prunieras syndrome: a case report]. / Síndrome de Griscelli-Prunieras: informe de un caso.

It is presented a six-year-old girl with silvered hair syndrome, of Griscelli-Prunieras variety; hereditary sickness with regressive autosomic and distinguished by partial albinism and leukocytic alterations. She presented the acute phase of the sickness distinguished by: hepatosplenomegaly, thrombocytopenia, lymphadenopathy generalized, and systematic infection; it is corroborated how a hemophagocytic syndrome; during her evolution developed pancerebellar syndrome. By laboratory were corroborated: decrease phagocytosis, degranulation 0%, decrease of globulins gamma, neutropenia, skin test of PPD and Candidin negatives, there were not find the giant inclusions in bone marrow leukocyte and peripheric blood that are feature of Chediak-Higashi syndrome. Another alteration that was the distribution of mote of melanin on the hair that in the Griscelli-Prunieras syndrome are six times bigger in the Chediak-Higashi syndrome.

[Gordon's syndrome. Report of a case]. / Síndrome de Gordon. Informe de un caso.

A 13 year old girl with hypertension (170/140 mmHg), hyperkalemia (7.3 mmol/L), hyperchloremic metabolic acidosis and normal glomerular filtration rate (creatinine clearance 128 mL/min/1.73 m2), had low plasmatic renin activity (0.20 ng/mL/h), the levels of plasma aldosterone was low (5.5 ng/100mL) and very low transtubular potassium concentration gradient. Other forms of the secondary hypertension were discarded. The patient was treated with salt restriction, oral salbutamol and furosemide, with satisfactory evolution. At present her blood pressure is 130/85 mmHg and potassium, plasmatic levels of 5.3 mmol/L.