Primary renal mucormycosis in a type 2 diabetic patient: A case report from Syria.

Mucormycosis is an opportunistic fungal infection that primarily affects immunocompromised individuals and rarely presents as renal mucormycosis (RM). Diagnosis can be challenging for many physicians. We report a rare case of primary, unilateral RM which triggered diabetic ketoacidosis in a type 2 diabetic patient. The case was later complicated by a bronchopleural fistula and a meropenem-resistant Klebsiella infection. The patient was ultimately treated with surgical intervention, liposomal amphotericin B, and polymyxine E. Early diagnosis and timely treatment of this life-threatening disease and its complications are significant in reducing mortality.

Retraction: Retroperitoneal Lipoma: An Unusual Etiology of Urge Incontinence.

[This retracts the article DOI: 10.7759/cureus.19878.].

Bladder stone formation due to neglected double J stent: a case report.

Introduction and importance: Double J (DJ) stents are commonly used in genitourinary procedures, but they can lead to complications including infection, hematuria, encrustation, and stone formation. The longer the duration of encrustation, the greater the risk of complications and renal dysfunction. Forgotten stents pose challenges for patients and can require endourological or open surgical procedures. Case presentation: A 40-year-old man with hypertension and coronary artery disease had a forgotten DJ stent for 3 years, causing suprapubic pain and dysuria. Kidney, ureter, and bladder (KUB) revealed a coiled DJ stent with a large bladder stone and encrustation, and an open cystolithotomy was successfully performed. Recovery was uneventful, and the patient was discharged without complication. Clinical discussion: Ureteral stents, including the DJ stent, are commonly used for urological conditions but can cause complications if retained beyond the intended timeframe. Optimal timing for stent removal is crucial, and patients' healthcare knowledge and adherence are critical to preventing retention. KUB X-ray can evaluate stent encrustation and bladder stones. Cystoscopy is the typical approach for stent removal, but supplementary interventions may be necessary. Open surgery was recommended for removing a large bladder stone and encrusted stent in this case. Conclusion: Timely removal of DJ stents is crucial to avoid complications. Extended retention can cause problems such as encrustation and stone formation. Patient education and adherence are essential to prevent retention and forgetfulness. This case report highlights the importance of careful management of patients with DJ stents for optimal outcomes and prevention of complications.

Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: First case reported in Saudi Arabia.

CODAS syndrome (cerebral, ocular, dental, auricular, skeletal anomalies) is a rare autosomal recessive inherited multisystemic disease that carries an incidence rate of less than 1 in 1,000,000 children worldwide. It has an infancy, neonatal age of onset, characterized by deformities of the central nervous system, eyes, ears, teeth, and skeleton. A 1-year-old female of non-consanguineous parents, first time presented to our pediatrics clinic on November 6, 2021 when she was 4 months of age with developmental delay, as the patient could not support her head and made no eye contact on examination. Microcephaly was observed. She had a positive family history; her sister died at the age of 3 days with microcephaly and diaphragmatic hernia. We recommend that a wider range of centers to get encouraged to report cases of CODAS they might encounter due to the lack of sufficient amounts if solid literature on the topic. To our knowledge, this is the first case to be reported in the literature from Saudi Arabia.

Combined Methylprednisolone Pulse Therapy plus Rituximab for Treating a Rare Juvenile Steroid-Resistant Nephrotic Syndrome with Cerebral Venous Sinus Thrombosis: A Case Report.

Background: Cerebral venous sinus thrombosis (CVST) secondary to nephrotic syndrome (NS) is rarely reported. Additionally, treating steroid-sensitive nephrotic syndrome (SSNS) that changes to steroid resistance (SRNS) is difficult, with many relapses and side effects. Case presentation: A 32-month-old SSNS male child turned into SRNS and developed cerebral venous sinus thrombosis (CVST), a rare complication of NS. As a result of the administration of combined pulse methylprednisolone and IV Rituximab (RTX) therapy, the patient showed marked improvement, the results of urine analysis were remarkably improved, and the child started to respond to treatment. Conclusion: Successful treatment of a rare case of juvenile SSNS behaving as SRNS with the development of CVST could be established using combined steroid pulse therapy, Enoxaparin, and the B lymphocytes monoclonal antibodies RTX.

Heterozygous Mutation of Sodium Voltage-Gated Channel Alpha Subunit 2 and Pumilio Homolog 1 Genes in a Pediatric Patient: A Case Report.

Epilepsy is a neurological condition brought on by recurrent and spontaneous seizures in patients with hypersynchronous neuronal ensemble activity. These spontaneous seizures appear to be brought on by increased neuronal excitability and synaptic synchronization. The development of neuronal hyperexcitability and acquiring epilepsy is still poorly understood. Cell differentiation and development might be related to the pumilio RNA-binding family member 1 (Pumilio 1 (PUM1)). Complete deficiency of this gene causes misregulation of the proteins involved in the control of neuronal excitability. Furthermore, the voltage-gated sodium channels alpha subunit 2 (SCN2A) triggers action potentials in brain neurons, and a variety of severe hereditary epilepsy syndromes are caused by their mutation. Here, we present a rare case of a seven-year-old female with co-occurrence of two genetic mutations in the pumilio homolog 1 (PUM1) and sodium voltage-gated channel alpha subunit 2 (SCN2A).

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report.

Glycogen storage disease type 2 (also known as Pompe disease) is a metabolic disorder characterized by an accumulation of glycogen within lysosomes. Pathophysiologically, this condition is caused by an autosomal recessive deficiency of the lysosomal acid alpha-glucosidase enzyme, resulting in defects in lysosomal metabolism. Glycogen accumulation causes advanced muscle weakness (myopathy) throughout the body, including the heart, skeletal muscles, liver, and the neurological system. Currently, there is no definitive treatment for Pompe disease. However, recent studies have indicated that enzyme replacement therapy (ERT) can be effective. Myasthenia gravis (MG) is an autoimmune illness that affects the postsynaptic acetylcholine receptors and causes fatigue that can be eased by rest. MG is frequently accompanied by a thymoma. Dyspnea and/or bulbar symptoms can indicate an imminent crisis requiring immediate intervention. Here, we present a rare case of a four-year-old female patient who initially presented at the age of one month with the infantile form of Pompe disease and congenital myasthenia syndrome type 5. The patient presented with bradycardia, poor suckling, respiratory distress, and respiratory failure requiring assisted ventilation, subglottic stenosis, and tachypnea. Whole exome sequencing was used for definitive diagnosis. ERT (Myozyme) was administered with good results. We propose that early identification and management of Pompe disease with Myozyme can improve patients' condition and ultimately increase the possibility of survival.

Retroperitoneal Lipoma: An Unusual Etiology of Urge Incontinence.

Urge incontinence is the most frequent type of urinary incontinence that can be due to bladder outlet obstruction or overactive bladder. A focused history is crucial to identify the type of urinary incontinence and the possible etiology. We report the case of a 67-year-old man with urinary frequency, urgency, and nocturia. However, his urine stream is normal with no history of an intermittent stream, hesitancy, or postvoid dribbling. Digital rectal examination revealed normal prostatic size. Urinalysis results were normal. Urine culture showed no growth. The patient was prescribed symptomatic treatment in the form of anticholinergic medication but failed to provide any clinical improvement. Urodynamic studies suggested the diagnosis of detrusor instability. A computed tomography (CT) scan of the abdomen was performed and demonstrated the presence of a large retroperitoneal lipoma exerting a mass effect on the bladder. The mass was successfully resected by laparotomy operation. Following the operation, the patient had complete resolution of his symptoms. The retroperitoneal region is an extremely rare site for lipoma. Patients with urinary urgency should be carefully evaluated for any structural lesion causing a compressive effect on the bladder.