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

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

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.