A Hypercalcemic Crisis Complicating Subcutaneous Fat Necrosis of the Newborn: A Case Report and Literature Review.

Subcutaneous fat necrosis of the newborn (SFNN) is a rare panniculitis that is characterized by the presence of skin nodules. Although SFNN is a self-limited benign disease, effective follow-up is highly recommended to detect hypercalcemia and other complications early on. A male newborn was admitted twice to the neonatal intensive care unit (NICU). The first NICU admission was for hypoglycemia, and the second was due to late-onset sepsis, in which reddish nodules were detected on the back, flanks, shoulders, and posterior aspects of the legs. At 44 days old, the infant was referred to the emergency department due to a hypercalcemic crisis. Screening for other SFNN complications revealed eosinophilia, hypoglycemia, and nephrocalcinosis. The hospitalization was further complicated by a rare occurrence of deep venous thrombosis. The calcium level was followed up to ensure the patient's recovery. This case highlights the complications that might follow SFNN and emphasizes the importance of its surveillance.

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.