[Griscelli-Prunieras syndrome: report of two cases]. / Síndrome de Griscelli-Prunieras: a propósito de dos casos.

Griscelli-Prunieras syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. His pathogenic mechanism is associated with defects in the packaging of melanin and other cellular proteins. GS is classified into 3 types based on the genetic and molecular features. Mutations in the genes which cause GS are known. We report two first cases described in Spain who presented a silver-gray sheen of the hair and a severe immune disorder. They were studied for mutations principally related to this syndrome. Two patients showed the Rab27a mutation (frequently associated with GS2). The natural disorder evolution differs considerably among the various forms, so a genetic study is essential in GS to achieve the most accurate prognosis and treatment possible.

[Usefulness of acid-base and electrolyte balance in acute gastroenteritis]. / Utilidad del equilibrio ácido-base y del ionograma en el tratamiento de la gastroenteritis aguda.

INTRODUCTION: Blood analysis blood is frequently requested for evaluating patients with acute gastroenteritis who come to our emergency department, but there are few studies that determine its real usefulness in the management of these patients. OBJECTIVES: a) To determine the reasons why paediatricians request laboratory tests in patients with acute gastroenteritis; b) to establish the type and frequency of laboratory abnormalities found in these patients; c) to evaluate the ability of paediatricians to predict laboratory abnormalities in children with acute gastroenteritis from the history and physical examination; d) to assess the frequency with which these laboratory findings change the initial management of the patient, and e) to determine whether there is an association between clinical and analytical results, and length of hospital stay. PATIENTS AND METHODS: Over a period of 4 months, children between 3 months and 18 years with symptomatic acute gastroenteritis seen in the emergency department and had laboratory tests requested by the paediatrician were included. RESULTS: Of the 4,172 children seen with acute gastroenteritis, 163 patients who had laboratory tests done were included in the study. The most common reason for requests was clinical suspicion of dehydration in 67.5 %. Abnormal results were seen in 77.9 % of cases, mainly metabolic acidosis (72.4 %). The sensitivity analysis to predict an analytical abnormality was 64.6 % with a specificity of 61.1 %. Electrolyte disorders caused a change in the initial management in 12.3 % of patients, with 85.3 % of patients requiring hospital admission; bicarbonate, sodium, creatinine and urea values correlated with a hospital stay of more or less 24 hours. CONCLUSIONS: History and physical examination have limitations in predicting the presence of clinically significant electrolyte abnormalities in patients without clinical signs of dehydration or mild dehydration. Some laboratory tests correlate well with the length of patient stay in hospital.