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Distal renal tubular acidosis (dRTA) is characterized by a defect in urinary acidification with various degrees of metabolic acidosis; it can be inherited either as an autosomal dominant trait or as a recessive trait. The recessive form is associated in about one third of cases with progressive sensorineural hearing loss (SNHL). We performed a(More)
Hypertrophic pyloric stenosis (IHPS) is the most common abdominal abnormality requiring surgery in infants. It occurs due to the hypertrophic and hyperplasia of the muscular layers of the pyloric. The usual age of clinical presentation is about three weeks of life. The most important symptom is non bilious emesis, intermittent or after each feeding. From(More)
BACKGROUND Systemic manifestations of Bartonella henselae infection are rare in the immunocompetent host. The infection generally has initial symptoms of prolonged fever and multiple granulomatous lesions in liver and spleen. METHODS Retrospective analysis of the records of all patients with hypoechogenic lesions in the liver and/or spleen diagnosed from(More)
The recently improved diagnostics have widened, in children, the spectrum of clinical manifestations recognisable as Bartonella henselae infection. We report here the clinical features of 20 (14 males) consecutive children with serologically proved B. henselae infection observed within 12 months in the Paediatric Department of the University of Pisa. The(More)
Six children presented during one year with clinical features of infectious mononucleosis, but with laboratory findings of leucocytosis with neutrophilia, increased erythrocyte sedimentation rate, and hypergammaglobulinaemia. Serology for Epstein-Barr virus, cytomegalovirus, adenovirus, and Toxoplasma gondii was negative, while anti-Bartonella henselae IgM(More)
High-resolution MR of the inner ear performed in 3 consecutive pediatric patients affected by distal renal tubular acidosis (dRTA) and progressive sensorineural hearing loss (SNHL) revealed enlarged vestibular aqueducts (LVA) (bilateral in 1 case and unilateral in 2). LVA is associated to sporadic, progressive SNHL, often secondary to minor head trauma and(More)
Four young male subjects (age range, 17 4/12 to 25 5/12 years), previously treated with human growth hormone for non-growth hormone-dependent short stature, showed reduced testicular volume and hypergonadotropic hypogonadism. They also showed impaired spermatogenesis and altered testicular texture as determined by ultrasonography. No clinical or laboratory(More)