PED5 Edema, hypoproteinemia, and acrodermatitis enteropathica: An uncommon initial presentation of cystic fibrosis. (Pediatrics and Adolescent Medicine).

PED5 EDEMA, HYPOPROTEINEMIA, AND ACRODERMATITIS ENTEROPATHICA: AN UNCOMMON INITIAL PRESENTATION OF CYSTIC FIBROSIS. Antonio E. Muniz, MD, and Robin Foster, MD. Department of Emergency Medicine and Pediatrics, Medical College of Virginia of VCU, Richmond.

Cystic fibrosis (CF) is a genetic disorder usually consisting of chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. However, unusual presentations may occur and a detailed history and physical examination will aid in the diagnosis. A 4-month-old boy was brought to the ER with a 2-month history of a rash, diarrhea, and progressive swelling. The rash had been treated with corticosteroids and antifungal and antibiotic treatment. There was no fever, vomiting, cough, dyspnea, or abnormality in urination. His birth history and medical history were unremarkable. He had a temperature of 37.5[degrees]C, blood pressure 76/54 mm Hg, heart rate 140/min, and respiratory rate 56/min. His physical examination was remarkable for generalized swelling, more pronounced in the lower extremities. His skin revealed a scaly macular and papular erythematous rash localized to the perineum, legs, trunk, and hands. His WBC was 25,000/[mm.sup.3] with 30% neutrophi ls and 8% band forms. His electrolytes were normal. His albumin was 1.6 g/dL and protein 3.2 g/dL. His urinalysis revealed no proteinuria. His chest radiograph showed air trapping and peribronchial cuffing. During the hospitalization, a zinc level was normal. His stool cultures were negative. A sweat test revealed a sodium of 111.1 mEq/L. He was given multiple infusions of albumin. He was started on albuterol, cromylyn, actigall, and pancrelipase. He improved and was discharged in stable condition. Cystic fibrosis affects the pulmonary system, but symptoms may not occur until weeks, months, and even years later. Thick mucus secretions lead to obstruction. Chronic infections and inflammatory changes cause lung damage and lead to cor pulmonale. Loss of pancreatic function leads to poor weight gain, abdominal distention, rectal prolapse, and pale, bulky, and malodorous stools. Other GI manifestations include meconium ileus and distal intestinal obstruction syndrome. The syndrome of edema and hypoproteinemia, due to pancreatic enzyme deficiency may be the presenting manifestation in up to 8% of patients with CE Associated findings include hepatomegaly, elevated liver enzymes, and acrodermatitis enteropathica, and anemia.