Browsing by Author "Alhalak, Rouzy"

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Bladder leiomyoma treated with transurethral resection of bladder tumor (TURBT): Case report
(2022-07) Alhalak, Rouzy; Alkabbani, Sarah; Nasseif, Hala; Janahi, Farhad
Introduction and importance: Bladder leiomyomas are rare benign mesenchymal tumors, accounting only about 0.43 % of all bladder tumors. These tumors are classified based on their location, where they can be endovesical, extravesical, and intramural with the endovesical subtype being the most common. There are roughly 250 cases of bladder leiomyoma reported worldwide. In the following case report, we discuss the case of a bladder leiomyoma presenting with obstructive urinary symptoms and managed with TURBT. Case presentation: A 24-year-old female presented complaining of incomplete bladder emptying accompanied by urgency, frequency, hesitancy, and urinary incontinence. MRI and US confirmed the presence of an oval-shaped mass lesion arising from the base of the urinary bladder. Tissue biopsy and immunohistochemistry confirmed the diagnosis of bladder leiomyoma. Following confirmation of the diagnosis, the patient underwent an uneventful trans-urethral resection of bladder tumor (TURBT). During the surgery, one large bladder tumor was resected. Surgical biopsy report confirmed bladder leiomyoma. Clinical discussion: In this case report, we discuss the various management options of bladder leiomyoma and our surgical approach to this condition. Conclusion: This case highlights a rare bladder leiomyoma presenting with obstructive urinary symptoms. Transurethral resection of bladder tumor (TURBT) remains the mainstay of treatment for small, endovesical tumors. Our patient had a successful surgery with no recurrence on follow up.
An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report
(2023) Alhalak, Rouzy; Al-Haideri, Mohammed H.; Khan, Arif
Abstract: Cardiofaciocutaneous syndrome is a rare, sporadic disease caused by germline mutations in the Ras/MAPK (mitogen-activated protein kinase) pathway. Patients usually present with craniofacial anomalies, cardiac defects, and neurocutaneous abnormalities. The features of cardiofaciocutaneous syndrome overlap with two other syndromes known as Noonan’s syndrome and Costello’s syndrome. Similarly, those two syndromes are caused by mutations in the Ras/MAPK pathway. The diagnosis of cardiofaciocutaneous syndrome is suspected based on the clinical presentation and confirmed by genetic analysis. We report a case of a seven-month-old boy who presented with complaints of developmental delay, poor weight gain, and seizures. Physical examination revealed several dysmorphic features, including coarse facies, long philtrum, thin upper lip, a broad forehead, and long toes. Neurological examination showed hypotonia in all four limbs, with normal power and reflexes. However, the infant did not have any remarkable cutaneous abnormalities. Whole-exome sequencing picked up a BRAF gene mutation, and the patient was diagnosed with cardiofaciocutaneous syndrome. On follow-up, the patient developed findings suggestive of autoimmune hepatitis. Cardiofaciocutaneous syndrome remains a challenging diagnosis that requires a detailed assessment of the patient, as well as qualified centers with genetic analysis for diagnosis confirmation. Management of cardiofaciocutaneous patients requires a multidisciplinary team approach in order to improve the outcomes. Further exploration is required into atypical presentations of the disease as well as autoimmune disease associated with RASopathies.