Incidental finding of renal pseudoaneurysm in child with tuberous sclerosis presenting with atypical clinical symptoms

结节性硬化症患儿出现非典型临床症状,偶然发现肾假性动脉瘤

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Abstract

Tuberous sclerosis (TS) is a complex medical disorder with multisystemic clinical manifestations. Although the renal manifestations of this disease are well researched, the complexities of clinical diagnosis are raised significantly in patients with cognitive impairments, particularly in the pediatric population. We present a case of a 12-year-old male with intellectual disabilities and renal angiomyolipomas associated with his TS complex presenting with subtle cognitive and behavioral changes leading to the eventual diagnosis of a renal pseudoaneurysm. The purpose of this case report is to highlight the subtleties of diagnosis and management of patients with TS and cognitive impairments and maintaining a high clinical index of suspicion for life threatening complications when presenting symptoms are nonspecific. This case also demonstrates the importance of obtaining a thorough clinical history from parents and caregivers of these children and educating them on significance of recognizing changing behavior patterns. The healthcare responsibility for diagnosis and management must be shared by all levels of personnel that participate in the care to allow for improved morbidity, mortality, and quality of lives for these patients.

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