Episodic apnea: gastroesophageal reflux associated with gastric organo-axial malrotation: a case report.

BACKGROUND: Gastroesophageal reflux is a normal physiologic process occurring several times a day in healthy infants. On the other hand, symptoms such as failure to thrive, feeding or sleeping problems, chronic respiratory distress, persistent forceful vomiting, and choking may indicate reflux associated with underlying anatomic, neurological, or infectious abnormalities. Gastric malrotation is an extremely rare disorder in the pediatric population and one of the anatomic causes associated with severe reflux, which could lead to serious complications. In such cases, life-threatening symptoms overlapping with other diseases cause delayed diagnosis and treatment. CASE PRESENTATION: We report a 2.5-month-old white girl diagnosed with gastric malrotation-related reflux, which caused inadequate weight gain, feeding difficulties, episodes of apnea with cyanosis, and choking after successive coughing, hence previously misdiagnosed as epilepsy and pertussis. CONCLUSION: Life-threatening symptoms in an infant with reflux suggest anatomic, neurological, or infectious conditions. Gastric malrotation is more common than generally thought and specifically looked for in young children with severe reflux symptoms, and should be diagnosed and treated as soon as possible.

Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease.

Kawasaki disease, known as mucocutaneous lymph node syndrome, is a multi-system disease of unknown aetiology that occurs in young children under 5 years of age. The recurrence rate of Kawasaki disease is as rare as 1-3%. Especially in cases with coronary artery involvement, recurrent Kawasaki disease should be investigated in terms of underlying rheumatologic diseases such as periodic fever syndromes, microscopic polyangiitis, polyarteritis nodosa, and systemic-onset juvenile arthritis. In this study, we report homozygote mutations in mevalonate kinase and familial Mediterranean fever genes in a recurrent Kawasaki disease with coronary dilatation.