RESUMO
Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder caused by mutations in the NPC1 and NPC2 genes. These mutations cause the accumulation of unesterified cholesterol and other lipids in the lysosomes. NPC has a broad spectrum of clinical manifestations, depending on the age of onset. A 15-day-old infant presented at the Seoul National University Children's Hospital with neonatal cholestasis and hepatosplenomegaly, with the onset of jaundice at 5 days of age. Despite supportive treatment, the patient was considered for a liver transplant because of progressive liver failure. Unfortunately, the patient died from gastrointestinal bleeding before undergoing the transplant. The neonatal cholestasis gene panel revealed two novel likely pathogenic variants in the NPC1 gene (c.1145C>G [p.Ser382*] and c.2231_2233del [p.Val744del]). The patient was diagnosed with NPC, and both parents were found to be carriers of each variant. In infants presenting with neonatal cholestasis, a gene panel can help diagnose NPC.
RESUMO
PURPOSE: Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is a leading cause of periodic fever in children. This study describes the clinical characteristics of PFAPA syndrome in patients from a single center.METHODS: Thirteen children diagnosed with PFAPA syndrome at Seoul National University Children's Hospital were included in this study. Retrospective medical chart reviews were performed.RESULTS: Among the 13 patients, 8 (61.5%) were male. The median follow-up duration was 3.3 years (range, 10 months–8.3 years). The median age of periodic fever onset was 3 years (range, 1–6 years). All patients had at least 5 episodes of periodic fever and pharyngitis, managed with oral antibiotics, before diagnosis. The median occurrence of fever was every 3.9 weeks and lasted for 4.2 days. All patients had pharyngitis and 12 (92.3%) had cervical lymphadenitis. Blood tests were performed for 12 patients, and no patients had neutropenia. Both the C-reactive protein and erythrocyte sedimentation rate were elevated at medians of 4.5 mg/dL (range, 0.4–13.2 mg/dL) and 29 mm/hr (range, 16–49 mm/hr), respectively. Throat swab cultures and rapid streptococcal antigen tests were negative. Nine (69.2%) patients received oral prednisolone at a median dose of 0.8 mg/kg, and in 6 (66.7%) patients, fever resolved within a few hours. Three (23.1%) patients received tonsillectomy and adenoidectomy.CONCLUSIONS: PFAPA syndrome should be considered when a child presents with periodic fever along with aphthous stomatitis, pharyngitis, or cervical lymphadenitis. Glucocorticoid administration is effective for fever resolution and can reduce unnecessary use of antibiotics.