J WEI 1, S CHATURVEDI 2,3
1Queensland Children’s Hospital, Brisbane, Australia, 2Department of Paediatrics, Royal Darwin Hospital, Darwin, Australia, 3Menzies School of Health Research, Charles Darwin University, Darwin, Australia
Background: Angiomyolipomas (AMLs) are the most common benign kidney tumours. The majority (80-90%) occur sporadically as solitary lesions with female predominance and are diagnosed incidentally in adulthood. The remaining 10-20% of kidney AML’s are associated with underlying genetic conditions and present earlier, are larger, and are often multifocal. The vast majority of these are associated with tuberous sclerosis complex (TSC) but have also been reported more rarely in cases of neurofibromatosis type 1 and von Hippel-Lindau syndrome (VHL).
Case report: We describe the case of an 11-year-old girl of Indian descent who was found to have multiple, unilateral kidney AMLs measuring up to 1.1 cm after an ultrasound for the investigation of recurrent urinary tract infections. Despite unremarkable family history, molecular microarray testing revealed a pathogenic 305 kb interstitial deletion at chromosome 3p25.3 involving the VHL gene, thus confirming the diagnosis of VHL. The patient underwent further workup with magnetic resonance imaging (MRI) of the brain and spine, audiology, ophthalmology review and plasma metanephrines.. These were normal. Genetic counselling was provided to the family, and ongoing regular tumour surveillance arranged for the patient.
Conclusions: The presence of multiple or large AMLs in the paediatric age group should prompt further investigation for associated conditions; in this case leading to a diagnosis of VHL.
VHL is an autosomal dominant neoplastic syndrome characterized by central nervous system and retinal hemangioblastomas; renal cysts and clear cell renal cell carcinoma; phaeochromocytoma; and other neoplasms. Management of VHL centers around early detection and management of associated lesions to reduce morbidity in the patient, as well as genetic counselling and testing for family members.
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