Acute acalculous cholecystitis associated with severe EBV hepatitis in an immunocompetent child.

Acute acalculous cholecystitis (AAC) is an inflammation of the gallbladder in the absence of demonstrated stones, which is rarely seen in paediatric population. The diagnosis is accomplished mainly through abdominal ultrasonography in the appropriate but usually non-specific clinical picture. Complicated cases need surgical intervention; the medical management is mainly constituted by supportive and antibiotic therapy, as most AAC are observed in the setting of systemic bacterial or parasitic infections. However, AAC has been rarely reported in association with Epstein-Barr virus (EBV) infection, where the gastrointestinal involvement is often mild and thus unrecognised. We report a case of EBV-related AAC associated with unusually severe hepatitis in an immunocompetent and otherwise healthy patient. We describe its benign clinical course, despite the serious liver impairment, by a medical management characterised by the prompt discontinuation of broad-spectrum antibiotics, as soon as EBV aetiology is ascertained, and by the appropriate analgesia and fluid resuscitation.

Long-chain polyunsaturated fatty acids profile in plasma phospholipids of hyperphenylalaninemic children on unrestricted diet.

INTRODUCTION: The aim of the present study was to examine whether hyperphenylalaninemic children on unrestricted diet (MHP) may exhibit a different LCPUFA profile from PKU or healthy children in plasma phospholipids. PATIENTS AND METHODS: Forty-five MHP children (age 9-14 years) were age and sex matched with 45 PKU and 45 healthy children. Fatty acids were determined and expressed as % of total fatty acids. RESULTS: MHP children showed docosahexaenoic acid (DHA) levels higher than PKU children (mean difference, 0.2%; 95% confidence interval, 0.02%-0.38%), although difference was not significant after correction for multiple comparisons, and lower levels than healthy children (-0.8%; -1.01% to -0.59%). Concentration of n-3 PUFA was higher in MHP than PKU children (0.6%; 0.4% to 0.8%), CONCLUSIONS: The results suggest that low DHA levels in plasma phospholipids not only are evident in PKU but also may occur in MHP children, who are on unrestricted diet, as compared to healthy children.

Anomalies of the kidney and urinary tract are common in de Lange syndrome.

Sixty-one patients affected by de Lange syndrome underwent a careful renal and urological evaluation including family and personal history, physical examination, urinalysis, renal tract ultrasonography, and serum creatinine. A voiding cystourethrography was performed in patients with urinary tract infections, in patients with renal ectopy, and in patients with small kidneys. Structural anomalies of the kidney and urinary tract were detected either by ultrasound or voiding cystourethrography in 25 patients (41%): absent or poor corticomedullary differentiation (N = 8; 13%), pelvic dilation (N = 6; 10%), vesicoureteral reflux (N = 5; 8%), small kidney (N = 3; 5%), isolated renal cyst (N = 3; 5%), and renal ectopia (N = 2; 3%). Renal function was normal in 52 patients (85%) but reduced in 9 patients (15%) with renal tract abnormalities. Overt proteinuria was disclosed in three patients with impaired renal function.

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

In 1994, Giuffré et al. reported two unrelated families in which some of the members had microcephaly and radio-ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al. and Udler et al. described two distinct patients with a different condition characterized by radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. Here we report on a new case of microcephaly and radio-ulnar synostosis and discuss the possible relationship between Tsukahara's syndrome and the phenotype described by Giuffré et al.