1. Child with cholestasis and massive hepatomegaly Marija Dimitrovska-Ivanova Faculty of Medical Sciences - Stip University Children’s clinic-Skopje Republic of Macedonia

2. Medical history Patient: B. Lj. 2.5 years, female Third child from third normal pregnancy. Born normaly in the 41 gestational week with born weight 3150g, born length 50 cm and APGAR SCORE 9/10. The baby was breast feed just for a month and than was introduced formula milk until one year. Other non milk food was administrated in 4 months of age. Poor weight gain during infancy. Because of frequent respiratory infections child was treated by a family doctor with wide spectrum antibiotics per os. In the last 5 months with frequent stools, decreased appetite and poor weight gain.

3. Clinical status at admission Child was taken to the family pediatrician who noticed jaundice, large abdomen and massive hepatomegaly. She was first hospitalized in General hospital in Ohrid and after excluding viral hepatitis was transferred to the University Children’s Clinic – Skopje At admission girl was in malnutrition and in bad general condition, she looked seriously ill, prostrated, febrile, tachicardic, icteric. Her weight was under 3% il (BW = 9 kg ) and her height on the 3 % il for age. Auscultation of lungs - vesicular breathing with crackles. Abdomen - Above the chest, distended and hard on palpation. Liver was palpable 9 cm under right cost arch and fulfilled the left hypochondrium

4. Laboratory evaluation Hgb = 97…88…72…149…128 g/l Er = 3,04…2,38…2,48…5,27…4,41 x 10^12/l Le = 13,7…12,3…13,1…9,3…9,1 x 10^9/l Sed rate = 67…44 CRP= 38,8…42,2 mg/l Fe serum = 6,6 µmol/l. K= 2,9…3,6…4,3 ABS - Ph = 7,49 HCO3 = 33,1 mmol/l, pO2 = 7,77 kPa (hypoxemia), Pco2 = 5,82 kPa Total proteins = 46...54...65…54g/l Аlbumen=23…30…22…26 IEPh, alfa – fetoprotein, alfa – 1- antitripsin, ceruloplazmine and antibodies for autoimmune hepatitis type 1 and type 2 were normal Serum creatinin, urea and amino acid screening in plasma and urine were normal

5. Laboratory evaluation Liver tests – Tot. bil. = 40...52...94…38, Conj. bil.= 26...38....19...18 AST= 93…68…317…139 U/L ALT= 41…43…60…52 U/L, GGT= 123…200 U/L, ALKP= 109 U/L The protrombin time was 51s (normal <13 s) and PTT was 71 s (normal <33 s). TTG test – negative Sweat test = 110 mmol/l Genotype – F 508 del/ F 508 del Liver biopsy – steatosis of liver with poor chronic inflamatory infiltrate

6. Ultrasound of abdomen-hepatomegaly, the liver is extremely hiperechogenuous

7. CT of abdomen - Liver with homogeneous structure with hypodensity on parenchyma and present hepatomegaly that fulfills the left hemiabdomen

8. On tracheal aspirate was isolated Staphylococcus aureus and Pseudomonas aerugino sa Chest x ray Consolidation in projection of the lingula of the left lung lobe

9. Treatment Parenteral antibiotic therapy according to antibiogram (S. aureus and P. aeruginosa) Amp. Meronem i.v and per os trimetoprim sulfotetoxasole. I.V Albumin was administrated in 4 times, Er transfusion, Vit. K, ursodeoxycolic acid and hepatoprotectiv therapy. Pancreatic enzymes, oral nutrition energy supplementation, supplementation of liposoluble vitamins A, D, E, K and beta – caroten. After one month child was discharged in general stable condition with better appetite, normalization of stools, progressive weight gain, without respiratory symptoms. Follow up treatment - eradication therapy for P. aeruginosa (Colomycin for 3 months), Pancretic enzymes, Vit. ADEK, hyper caloric meals, oral nutrition energy supplementation and physical therapy.

10. Current nutritional status Child is follow CF outpatient clinic. She was no hospitalized during 3 years. The child is making a good weight gain BW= 20,3 kg (75 %il) Body height= 105 cm(10 %il) and BMI= 18,4. On the last control with gradual reduction of hepatomegaly, but with present nodular cirrhosis. Without exacerbation on lung desease.

12. Conclusion Delayed diagnosis of Cystic fibrosis Early begining of liver disease with signs of liver insufiency. Steatosis and nodular cirrhosis of liver.