Exchange Transfusion: A Good Option for the Acute Treatment of Familial Chylomicronemia Syndrome in the Neonatal Period.

Familial chylomicronemia syndrome (FCS) is one of the rare causes of hypertriglyceridemia. Plasmapheresis is recommended in patients with triglyceride levels greater than 2000 mg/dL. However, plasmapheresis is difficult to perform in most centers due to technical inadequacies in the neonatal period. There are some reports in the literature on the efficacy of exchange transfusion. The index case involves a 20-day-old male patient who was admitted to the emergency department for restlessness and poor feeding. He was born at term with a birth weight of 4000 g. He was exclusively breastfed. The patient was taken to the neonatal intensive care unit due to his plasma being in the form of excessive lipemia. The first measurable triglyceride level was 5100 mg/dL (57.6 mmol/L). Breast milk was restricted, and intravenous hydration was started. However, his triglyceride level did not decrease despite this treatment. Other laboratory values could not be read due to excessive lipemic serum. On the third day of hospitalization, an exchange transfusion was decided upon in this case due to the development of respiratory distress (oxygen support, tachypnea). After exchange transfusion, the patient's triglyceride level reduced dramatically to 592 mg/dL (6.6 mmol/L), and his respiratory symptoms resolved. The aim of this case report is to demonstrate that exchange transfusion therapy is a safe and effective treatment modality in the neonatal period for the acute management of FCS. Furthermore, dietary therapy restricted to long-chain fatty acids combined with medium-chain fatty acid supplementation is highly effective in the chronic management of these patients.

PPM1K defects cause mild maple syrup urine disease: The second case in the literature.

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism of branched-chain amino acids. BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched-chain α-ketoacid dehydrogenase complex, which is responsible for the catabolism of these amino acids. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT are characteristic of MSUD. In addition, a patient with a PPM1K defect was previously reported. PPM1K dephosphorylates and activates the enzyme complex. We report a patient with MSUD with mild findings and elevated BCAA levels carrying a novel homozygous start-loss variant in PPM1K. Our study offers further evidence that PPM1K variants cause mild MSUD.

Nasal carriage of Staphylococcus aureus in children with allergic rhinitis and the effect of intranasal fluticasone propionate treatment on carriage status.

OBJECTIVE: The aim of this study is to determine the rate of nasal carriage of Staphylococcus aureus (NCSA) in children with allergic rhinitis (AR) and to determine the effect of intranasal fluticasone propionate spray on the NCSA. PATIENTS AND METHODS: Nasal swabs were taken from the children admitted to general pediatrics and pediatric pulmonology clinics. Patients were divided into two groups according to the presence or absence of AR. Diagnosis of AR was based on the patient's symptoms. Nasal swabs were taken from AR patients before and after the treatment with intranasal fluticasone propionate, and from the control group at the beginning and after 2 months. RESULTS: Whole NCSA rate was 17.9%; it was 21.4% for AR patients and 15.9% for control group, respectively (p>0.05). Treatment with intranasal fluticasone propionate spray did not influence NCSA in AR patients. CONCLUSION: It seemed that NCSA was not increased in children with AR and treatment with intranasal fluticasone propionate spray did not change NCSA in AR patients. It is obvious that better understanding of the factors affecting the acquisition and loss of NCSA might increase our knowledge about the relationship between NCSA, allergic airway diseases and their treatments.