IFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report.

Mainzer-Saldino syndrome (MSS) or conorenal syndrome (CRS) is a rare autosomal recessive ciliopathy characterized by multiorgan affection, typically presents with a triad of nephronophthisis (NPHP), retinitis pigmentosa (RP), and cone-shaped epiphysis (CSE) with varying degrees of severity. A 20-month-old male is experiencing recurrent pneumonia attacks, an elevated serum creatinine level, proteinuria, and high anion gap partially compensated metabolic acidosis were incidentally discovered during one of his hospitalizations. A biopsy was performed, and the results supported the diagnosis of Alport syndrome. However, a subsequent genetic test suggests the presence of MSS. Aside from NPHP, RP and CSE tested positive. Based on the fact that MSS is not a common cause of end-stage renal disease (ESRD) in pediatrics, physicians should bear in mind genetic testing as a decisive tool. In this context, we highlighted a case of an accidentally discovered impaired renal function from first presentation to final diagnosis, with a valuable comparison with previously published similar cases.

Emergency Presentation of Invasive Cervical Cancer in Late Pregnancy: A Case Report and Literature Review.

Antepartum hemorrhage (APH) often prompts consideration of the presence of obstetric disorders. Here, we describe a case with active APH in which invasive cervical cancer was the cause. A 41-year-old woman, fifth gravida, fourth para (G5, P4), presented to the emergency department at 38 weeks of gestation with an acute severe attack of vaginal bleeding, which occurred immediately after a per-vaginal examination at another local institute. Despite initial stabilization measures and investigations to exclude common causes of APH, a protruding cervical mass was discovered during a Cusco speculum examination. The patient underwent an emergent cesarean section (CS). Postoperatively, the patient was referred to the gynecological oncology unit for further evaluation and management. Magnetic resonance imaging (MRI) confirmed the presence of a large cervical mass. A punch biopsy revealed squamous cell carcinoma (SCC) of the cervix. All these confirmed the condition as cervical carcinoma stage IB3. This case and literature review highlight the obstacles that might delay the diagnosis of cervical cancer and the importance of continuing the screening program strategies even during pregnancy to avoid complications of invasive cervical cancer. In addition, bleeding due to cervical cancer should always be considered one of the important differential diagnoses of APH even in full-term pregnancy.