Marked hypereosinophilia in a toddler: a case report.

BACKGROUND: Human toxocariasis is primarily a soil-transmitted zoonosis, so children with geophagia are at an increased risk of toxocariasis, especially those living in homes with puppies that have not been dewormed. CASE REPORT: A 17-months-old female presented to our department with fever, abdominal distention and marked eosinophilia. Iron deficiency anemia, marked leukocytosis (79,000 cells/mm(3)) accompanied by marked eosinophilia (55,000 cells/mm(3)), and hyper-gammaglobulinemia were noted. On the basis of the strong serological positivity for toxocariasis, marked eosinophilia, and low-density lesions in the liver at computed tomography, a diagnosis of visceral larva migrans syndrome was made. CONCLUSION: Visceral larva migrans is usually suspected in a young child with history of geophagia, pets exposure, hepatomegaly, whose complete blood count reveals leukocytosis and marked eosinophilia.

Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype.

UNLABELLED: Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Since the first description of the syndrome in 1959, there have never been reported cases of Alstrom syndrome with the occurrence of the Bardet-Biedl syndrome in their relatives, this case suggesting a close genetic link between these two ciliopathies. The presence of empty sella seems to be a rare morphologic finding in Alstrom syndrome although it has been documented in few Bardet-Biedl cases. CASE PRESENTATION: We report a case of a 20 -year-old caucasian male with hearing and visual loss, short stature, insulin resistant diabetes, dilated cardiomyopathy, hepatic and renal dysfunction, hypertension, and alopecia. By studying his family medical records we identified two relatives with suggestive clinical findings for Bardet Biedl syndrome. CONCLUSION: Analyzing the clinical traits of these patients we found that retinopathy, nephropathy and central obesity were present in all patients, suggesting a main anomaly in ciliary function controlling photoreception, renal and metabolic processes. The occurrence of similar clinical cases within a family further demonstrates the existence of a common pathologic cilliary mechanism, a genetic basis of phenotypic variability in seemingly monogenic disease and a functional link between rare disorders and common traits with overlapping clinical manifestations. Genetic studies in such patients may provide new data regarding the consequences of defective cilia and a possible identification of new gene mutations.