1. (Nearly) non-vital values in an infant P. Rozsíval, E. Pařízková Dept. of Pediatrics University Hospital Hradec Králové Charles University Prague, Medical Faculty Hradec Králové

2. Family history mother allergic (pollinosis, no therapy) father hypertension (on therapy) step-brother (maternal) healthy no other significant diseases in the family

3. Personal history 2 nd pregnancy, IVF, no complications born at term, 3730 g/49 cm, fototherapy 4 days fully breast-fed 6 months, then started on vegetables and puddings (refused) intermitent diarrhea on full breast-feeding fully vaccinated (BCG, 3x DTaP-HiB-HB-IPV + pneumo) slightly retarded motor development (no turning)

4. Current illness 7 months: mild „respiratory illness“, no fevers, rhinitis, mild cough, worse mood, worse feeding, intermitent vomiting +1 week: contacted primary ped. by phone – symptomatic therapy +1 week: visited primary ped., -790 g/2 wks, admitted to local hospital

5. Current illness – local hospital (4 days) on admission tired-looking, hollow eyes but normal hydration, normal circulatory and ventilatory parameters, no edemas no leukopenia, mild hypochromous anemia Na 125, K 2.5, albumin 12 g/l, no proteinuria, normal urea, creatinine, negative CRP breast-fed + maternal milk + infusions → raised Na, K, Cl but albumin 8 g/l transferred to Dept. of Ped. Hradec Králové

6. Dept. of Pediatrics Hradec Králové well hydrated, good peripheral pulses, normal BP, HR, RR, temp., 6300 g/64 cm Na 131, K 3.1, iCa 0.99, Mg 0.25, P 0.75, alb 12.5, TP 24.5, s-osm 280 urea, creatinine, uric acid, ALT, AST, bili, LD, CK, CK-MB, TAG, chol, CRP, glucose, ESR - normal partially compensated metabolic acidosis (pH 7.276, pCO 2 2.92, BE -14.8, stHCO 3 13.0), lactate 2.2 undetectable u-Na, no proteinuria

7. Dept. of Pediatrics Hradec Králové slow correction of metabolic derangements, no reaction to albumin probable intestinal losses → CVC placement, TPN plasma infusions → diffuse edemas, furosemide repeated stools with mucus

8. Immunology IgG 0.3, IgA 0.12, IgM 0.13 g/l, IgE 2 IU/ml → IVIG infusion CD3 0.18 (x10 9 /l), CD4 0.12, CD8 0.15 CD19 0.1, NK 0.22, normal burst test, activity at 48 h slightly lower immune deficiency probably secondary to intestinal losses IgG… (IVIG) …6.3… (2 wks) …0.7… (IVIG, 1 mo) …3.8 g/l

9. Gastroenterology exsudative enteropathy GIT contrast – abnormal duodenum mucosa negative celiac disease screening 4 days on TPN, then hydrolysed formula with MCT – well tolerated gastrodoudenoscopy – white spots in duodenum, non-significant biopsy (fat accumulation in enterocytes) α1-AT clearence not performed in our hospital → probable intestinal lymfangiectasia

10. Out-patient course discharged after 1 month, gaining weight, no edemas, normal albumin, slight hypoproteinemia, normal lymphocyte count, persisting leukopenia, on hydrolysed formula with MCT oil 1 wk after discharge normal proteinemia 3 wks after discharge last IVIG 3 mo after discharge IgG 5.3 (age 11 mo), gaining weight, hydrolysed formula + vegetables, meat, cereals, normal albumin, protein, minerals, liver function tests, normal psychomotor development, the only persisting pathology – leukopenia (3.75x10 9 /l, 60% lymphocytes)

11. Summary infant with probable dg. of intestinal lymphangiectasia –severe hypoproteinemia, hypoalbuminemia (+ low Fe, transferrine) –no other explanation for protein losses –no cholesterol elevation (or decrease) –hypogammaglobulinemia, leukopenia –typical endoscopic picture

12. Summary non-significant pathology but –typical look –even for larger children/adults using large biopsy forceps or obtaining multiple samples recommended – here limited with child’s size –typical reaction to recommended treatment

13. Protein-losing gastroenteropathies (PLGE) nonulcerative diseases (eosinophil gastroenteritis and Menetrier's disease) ulcerative diseases (erosive gastritis and inflamed bowel disease) disorders resulting from lymphatic obstruction (congenital intestinal lymphangiectasia and Whipple's disease)

14. Congenital intestinal lymphangiectasia primary disorder in cases of malformation of lymphatic vessels at intestinal level secondary to diseases that cause intestinal lymphatic obstruction (abdominal or retroperitoneal tumors, retroperitoneal fibrosis, chronic pancreatitis, mesenteric tuberculosis, Crohn's disease, intestinal malrotation, Whipple's disease, celiac disease, congestive heart disease…)

15. Congenital intestinal lymphangiectasia mostly occurs in adults/older children described prenatally, in preterm neonate or in term siblings usually reacts well to MCT formulas need for follow-up, future possibility of recurrence – chylous ascites…