Xanthogranulomatous pyelonephritis (XPN) is an uncommon variant of chronic pyelonephritis with a poorly understood pathogenesis and a challenging diagnosis. It is rare in pediatric patients, particularly in the neonatal period. We report the case of an 18-day-old female neonate admitted to the emergency room due to macroscopic hematuria and poor feeding. Urinalysis revealed leukocyturia and she was initially admitted under the clinical suspicion of acute pyelonephritis. Renal ultrasound and magnetic resonance imaging (MRI) revealed a progressive nodular lesion in the middle third of the left kidney. Given the suspicion of renal abscess or neoplasm, the patient was transferred to our tertiary hospital. Urinary catecholamines and tumor markers had normal values. Percutaneous kidney biopsy confirmed XPN. Posterior computed tomography scan excluded extension to neighboring structures. A conservative management with systemic antibiotic therapy was decided. She completed 7 weeks of systemic antibiotic therapy (ampicillin and cefotaxime) with progressive reduction of lesion size and posterior calcification. Follow-up at 3 years was uneventful. The lipid profile and study of neutrophil function were normal. Voiding cystourethrography excluded vesicoureteral reflux. The authors intend to highlight the importance of a high index of suspicion of XPN to allow preoperative diagnosis. Histopathological assessment is mandatory to confirm XPN and exclude other entities mimicked by focal and unilateral progressive disease. There are only a few published cases of optimal clinical evolution solely with broad-spectrum antibiotics; however, this may allow a beneficial nephron-sparing approach in selected patients.

Background The pathogenesis of autism spectrum disorder (ASD) is not fully clarified. Next-generation sequencing technologies have greatly enhanced the identification of new genes associated with ASD. Variants in ANK2 gene are known to correlate with a broad spectrum of clinical cardiac phenotypes, but, more recently, it has also been pointed out as a candidate gene for the etiology of ASD. Case presentation We report the case of a female patient with ASD and epilepsy in whom clinical exome sequencing was performed for etiological enlightenment. A heterozygous variant of uncertain significance was identified in the ANK2 gene: c.3412C > T p.(Arg1138Ter). The child was submitted to a formal cardiac evaluation, ruling out cardiovascular abnormalities. The genetic variant was searched in her parents and was negative in both, suggesting a de novo variant, which favors its pathogenicity. Conclusions We recognize the challenge of assessing variant pathogenicity in candidate genes for ASD, and ANK2 gene is currently not associated with neurodevelopmental disorders in the Online Mendelian Inheritance in Man database. Nonetheless, our case can be added to other published reports of de novo ANK2 variants in children with ASD and neurological phenotypes (including seizures), some without cardiac impairment. Hopefully, this study provides a more detailed phenotypical description that is often lacking, and it may contribute to a better understanding of the association between ANK2 and ASD.

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Infantile hepatic hemangiomas (IHH) account for 12% of all childhood hepatic tumors. Most IHH are diagnosed within the first 6 months of life and involute spontaneously; however, some require medical treatment. The present report describes a case of multifocal IHH associated with subcutaneous and lingual hemangiomas, complicated by consumptive hypothyroidism and successfully managed with oral propranolol and thyroid replacement therapy, without documented adverse effects. Consumptive hypothyroidism is a rare complication of IHH, but suggestive of multifocal/diffuse subtypes. The authors intend to reinforce the importance of early referral to a Vascular Anomalies Center and treatment with propranolol in selected patients.