Keywords
glandular adrenal hyperplasia
neonatology
How to Cite
Abstract
Aim of the study. This article aimed to present case of a child with Beckwith-Wiedemann Syndrome (BWS) with prenatally detected focal lesion in the left adrenal gland. The abovementioned syndrome is associated with increased risk of neoplasia, including neuroblastoma, requiring prompt differential diagnosis. Material and methods. The following study presents meticulously detailed diagnostic and therapeutic process concerning female premature neonate, referred to the Authors’ Clinic due to prenatally detected lesion in the superior pole of the left kidney on ultrasound. Results. MRI revealed solid-cystic lesion above the left kidney with water retention and enhancing with contrast medium. Results of the CT scan suggested left adrenal gland hypertrophy, observed in hemihypertrophy syndromes. Absence of calcifications, normal concentrations of neuron-specific enolase (NSE), as well as normal catecholamines and their metabolites in 24-hour urine collection were not indicative of neuroblastoma. Steroid profile ruled out congenital adrenal hyperplasia. The results excluded neoplastic character of the lesion, suggesting presence of left adrenal adenomatous hyperplasia in BWS. Conclusions. Every focal lesion in the renal space requires a thorough differential diagnosis to rule out a neoplasm. Patients with genetic tumour predisposition syndromes ought to remain under strict diagnostic scrutiny in order to provide them with adequate treatment.
References
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