A randomized, double-blind study examining the comparative efficacies and safety of inhaled epinephrine and nasal decongestant in hospitalized infants with acute bronchiolitis.

Optimal treatment of acute bronchiolitis is currently unclear. In a double-blind study, we found no significant differences between inhaled epinephrine and nasal decongestant in hospitalized infants with acute bronchiolitis regarding length of hospitalization, need for oxygen supplementation, or intravenous fluids and clinical score. Nasal decongestant is as effective as inhaled epinephrine in acute bronchiolitis.

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence of type 2 GD (GD2) in four pregnancies in two Jewish families in Israel (in one case the mother was not Ashkenazi but was from a Sfaradi Jewish family) and also review seven additional cases of GD2 in Ashkenazi Jewish families reported in the literature. Phenotypically, GD2 in Ashkenazi Jews does not differ significantly from this form in other ethnic groups. Genotypic analysis of probands from the two Israeli families demonstrates that each carried two heterozygous glucocerebrosidase mutations. We could find no explanation why GD2 is so rare in the Jewish Ashkenazi population but we could hypothesize that homozygosity for certain Ashkenazi alleles might be lethal, leading to a lower than expected frequency of GD2 and noted that no cases of homozygous L444P has ever been described in Ashkenazi Jews.

Prolonged course of familial hemophagocytic lymphohistiocytosis.

Familial hemophagocytic lymphohistiocytosis is usually diagnosed in the first 2 years of life and, if untreated, is rapidly fatal. We describe a 10-year-old boy with a 9-year history of prolonged fever and progressive hepatosplenomegaly who was diagnosed as having hemophagocytic lymphohistiocytosis 2, being homozygote to a previously described mutation in the PRF1 gene, and cured by the HLH-2004 protocol and allogenic bone marrow transplantation. This unique case emphasizes the heterogeneity of this disease and the diversity of its clinical presentations.

Mass at the splenic hilum: a clue to torsion of a wandering spleen located in a normal left upper quadrant position.

Wandering spleen is an extremely rare condition in which the spleen is lacking its normal ligamentous attachments and therefore can move to an ectopic position in the abdomen or pelvis. Wandering spleen predisposes the patient to life-threatening complications due to torsion of the spleen's vascular pedicle, with resulting splenic infarction, portal hypertension, and bleeding. Because of the nonspecific symptoms, imaging plays an important role. To our knowledge, only a few case reports describing wandering spleen in the pediatric population have been published, including 2 cases in infancy. We report a case of splenic torsion in an infant with a preoperative diagnosis made on the basis of color and power Doppler sonography. The diagnosis was confirmed by contrast-enhanced helical computed tomography (CT) and proved at surgery. On sonography, a diffusely hypoechoic spleen and a mass at the splenic hilum representing the torsed splenic pedicle were shown. The splenic hilar mass correlates with the CT "whirl" sign indicative of torsion.

"Suffocation roulette": a case of recurrent syncope in an adolescent boy.

We present the case of a 12-year-old boy admitted with a complaint of recurrent syncopal episodes. A careful history taking revealed the cause of the syncopal episodes to be a dangerous game played by adolescents called "suffocation roulette." We believe that recognition of this game as a possible cause of syncopal events, together with prompt educative intervention, might prevent adolescent morbidity and mortality and also might eliminate the need for unnecessary medical investigations.

[The severity and prolonged morbidity of community acquired pneumonia caused by group A Streptococcus].

We describe a case report of a sixteen year old patient who was admitted with severe group A streptococcal (GAS) pleuro-pneumonia, underwent pleurocentesis and recovered after two weeks of hospitalization, although complete recovery lasted for another three weeks. The present publication aims to highlight the severe, prolonged and complicated course of GAS pneumonia in children which has not yet been reported in Israel. Accurate diagnosis is crucial for appropriate therapy, which is a prolonged i.v. course of penicillin.