Case Report: Urethral Diverticulum after Tubularised Incised Plate Repair of Distal Hypospadias: An Uncommon Complication.

Introduction: A urethral diverticulum can be defined as a pocket that forms from the lining of the urethra and protrudes into the surrounding tissue, a condition which causes voiding dysfunction and may result as a rare complication of hypospadias repair surgery. Case report: We report the case of a 2-year-old child who presented to us in 2019 complaining of a thin forceful stream, ballooning of the ventral aspect of the penis while voiding, and post-void dribbling. He has a history of undergoing a tubularised incised plate urethroplasty for distal penile hypospadias at 18-months-old. Ultrasound showed increased post-void residual volume and cystourethroscopy confirmed a urethral diverticulum extending from the subcorona to the base of the penis. The patient underwent partial excision of diverticulum, urethroplasty, and meatoplasty. He was followed-up 3 months later with complete resolution of his symptoms and a normal urinary stream with no urethral ballooning or dribbling. Conclusion: Urethral diverticulum may present as a complication post hypospadias repair. Although it is rare, we believe that it is important for the patient's parents to understand the possibility and know of the signs and symptoms in addition to attending regular outpatient clinic appointments in order to facilitate early management if needed. Furthermore, it is highly important for physicians to assess newborns for hypospadias before carrying out circumcision as it is a contraindication for the procedure.

Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.

Galactosialidosis (GS, OMIM #256540) is a systemic autosomal recessive disorder that is due to a mutation in the cathepsin A (CTSA) gene. Its worldwide prevalence is rare, accounting for ~146 cases reported cases globally. In Bahrain alone, nine cases have been confirmed. This article aims to shed a light on the clinical spectrum and outcome of these nine patients who share the same novel genetic mutation. The article was written retrospectively based on the review of patients' medical records, which included clinical notes, biochemical, radiological, and genetic assessments. Analysis of the data from all nine patients revealed that the diagnosis was most commonly made at the early years of life. As expected from any systemic disorder, the disease affects multiple organ systems with musculoskeletal and the gastrointestinal system being most commonly involved. Short stature, skeletal deformities, coarse facial features, and different degrees of hepatomegaly are among initial presentations of the disease. Notably, one of the patients described in this article, developed severe form of cardiomyopathy and another one, presented with nonimmune hydrops fetalis, both of which considered rare occurrences in the context of GS. Genetically, all patients had the similar genetic mutation confirmed by laboratory tests. A few patients have had their diagnoses made based upon family history alone.