1. Case Conference 소화기 내과

2.  :  주소 : 의식변화 o/s : 내원 2 일 전   현병력 - 평소 특이병력 없이 지내던 환자로 내원 3 주전 부터 기운이 없고 열감 있어 단순한 감기로 생각하고 그냥 지내다가 오심이 심해져 개인 의원에서 위내 시경 시행, 미란성 식도염 진단받고 투약하면서 지냄 - 내원 2 주일 전 경미한 두통이 있었고 일주일 전 부터는 자신이 한 말과 행동을 잘 기억하지 못하는 증상이 반복됨. 내원 2 일 전 아침 부모가 물어도 대답을 하지 못하고 의식의 변화가 있어 성바오로 병원 입원함 - 성 바오로 병원에서 원인을 알기 위해 본원 신경과로 전원 됨. 11760553 남 O 우 M/24 입원일 :05. 2. 22

3.   과거력 - DM (-) HTN (-)Tb (-) Hepatits (-) - Op (-)Allergy(-) 성바오로 병원 : ammonia 150  60 ug/dL (latulose enema 시행 ) Brain MRI : Unremarkable   가족력   개인력 : Alcohol (-)Smoking (-)Occupation: 학생 ( 건축설계 전공 )

4. Review of system   General : fatigue (-)fever (-) chills (-) weight loss (-)   Skin : rash (-) pigmentation (-) itching (-)   Head & Neck : headache (-) trauma (-) stiffness (-)   Eye / ENT : sore throat (-) dry mouth (-) hoarseness (-)   Respiratory : cough (-) sputum (-) dyspnea (-)   Cardiac : palpitation (-) orthopnea (-) chest discomfort (-)   Gastrointestinal : A/N/V/D/C (-/-/-/-/-) abdominal pain (-)   Genitourinary : urgency (-) frequency (-) polyuria (-)   Endocrine : polydipsia (-) heat intolerance (-)   Musculoskeletal : musle weakness (-) arthralgia (-)   Neurology : paralysis (-) sensory change (-) amnesia(-)

5. Physical examination   Vital sign : 130/80 mmHg-86 회 /min-20 회 /min-36.8°C Height 178 cm Body weight 66 kg BMI 20.8 kg/m 2   General appearance alert consciousness not so ill appearance   Skin no rash or pigmentation, skin turgor : normal   Head & Neck no neck vein engorgement no cervical / supraclavicular LN enlargement   Eye & ENT isocoric pupil with PLR(+/+) pinkish conjunctiva whitish sclera Pharyngeal injection(-) paratonsilar hypertrophy (-/-)

6.   Thorax symmetric chest expansion clear breathing sound without crackle regular heart beat without murmur   Abdomen soft and flat abdomen normoactive bowel sound no hepatosplenomegaly no tenderness no rebound tenderness   Back / Extremity CVA tenderness (-/-) pretibial pitting edema (-/-)

7.   Neurologic examination Alert mentality Higher cortical function time, place, person orientation intact language, calculation intact Cranial nerve system facial palsy (-)isocoric pupil with PLR (++/++) nystagmus (-) gag reflex intact Motor, Sensory : all modality intact DTR : all intact Cerebellar function test : finger to nose (-)

8. Impression   Viral encephalitis R/O Metabolic encephalopathy

9. Diagnostic plan   CBC/DC and routine chemistry   CSF Study - Pressure, cell count, chemistry, microbiological culture   Serology for viral infection   Brain imaging study   EEG

10. Laboratory finding  CBC/DC 6830/mm3 -14.4 g/dL- 39.1 % - 192000/mm 3 PT(INR) 1.05a-PTT 27C33  Chemistry TB/DB 1.3/0.3 mg/dL ALP 78 U/L LD/CK 531/85 U/L Prot/Alb 6.2/3.9 g/dL AST/ALT 44/63 U/L BUN/Cr 11/0.7 mg/dL Na/K/Cl 132/3.7/102 mmol/L CRP 0.0 mg/dL ESR 5 mm/hr Ammonia : no check up  Viral marker HBsAg / HBsAb / HBcAb(IgG) (-/-/-) HBsAg / HBsAb / HBcAb(IgG) (-/-/-) anti-HAV lgM / anti-HAV lgG (-/-) anti-HAV lgM / anti-HAV lgG (-/-) anti-HIV / Anti-HCV (-/-) anti-HIV / Anti-HCV (-/-) anti-Hepes IgM / anti-Herpes IgG (-/-) anti-Hepes IgM / anti-Herpes IgG (-/-) anti-CMV lgM / anti-CMV lgG (-/-) anti-CMV lgM / anti-CMV lgG (-/-) anti-Rubella lgM / anti-Rubella lgG (-/-) anti-Rubella lgM / anti-Rubella lgG (-/-)

11.   UA Bilirilubin(-)Urobilinogen 0.1 mg/dLKeton (-) Protein (-) Glucose (-) pH 8.0Specific Gravity 1.125 RBC/WBC 0~1/2~4   CSF examination Pressure 22 cmH2O RBC 1/mm3 WBC 1/mm3 Protein 100 mg/dL Glucose 76 mg/dL   EEG - Unremarkable

12. 2005. 2. 24(HD #3)  Mental status : Semicomatous mentality at 4 A.M.  Lab finding AST/ALT 62/58 U/L Ammonia 537 ug/dL BUN/Cr 9/0.8 mg/dL Na/K/Cl 137/4.2/108 mmol/L ABGA 7.383-36.9 mmHg-117.1mmHg-21.5mmol/L-98.3% Anion gap : 7.5 mmol/L glucose 208 mg/dL  Others Brain CT : Unremarkable Abdominal US & Abdominal CT: No specific abnormality F/U EEG : diffuse cerebral dysfunction  Management lactulose enema q1 hr Phenytoin, acyclovir

13. BRAIN CT

14. 2005. 2. 25(HD #4)  Mental status : drowsy,slightly improved mentality  Lab finding AST/ALT 65/59 U/L Ammonia 66  259  448 ug/dL BUN/Cr 16/0.7 mg/dL Na/K/Cl 149/3.8/118 mmol/L ABGA 7.429-30.5 mmHg-113.2 mmHg-19.7mmol/L-98.5 % Anion gap : 11.3 mmol/L  Management lactulose enema q1 hr Phenytoin Acyclovir

15. 2005. 2. 26(HD #5)  Mental status : stupor,slightly improved mentality.  Lab finding AST/ALT 57/56 U/L Ammonia 649  1125  187 ug/dL BUN/Cr 13/0.9 mg/dL Na/K/Cl 152/3.7/121 mmol/L ABGA 7.456-30.7 mmHg-85.5 mmHg-18.7mmol/L-97 % Anion gap : 12.3 mmol/L Phenytoin 18.6 (10~20 ug/mL)  Management lactulose enema q1 hr Mannitol 15% 200 ml q 6 hr Phenytoin hypotonic saline

16. 2005. 2. 27(HD #6)  Mental status : alert mentality at 7 A.M.  Lab finding AST/ALT 222/229 U/L Ammonia 115 ug/dL BUN/Cr 35/1.4 mg/dL Na/K/Cl 165/2.6/139 mmol/L  Management lactulose enema q1 hr Mannitol 15% 200 ml q 6 hr hypotonic saline

17. 2005. 2. 28(HD #7)  Mental status : alert mentality.  Lab finding AST/ALT 57/56 U/L Ammonia 87 ug/dL BUN/Cr 35/1.4 mg/dL Na/K/Cl 153/4.0/125 mmol/L  Management lactulose enema q1 hr Mannitol 15% 200 ml q 6 hr hypotonic saline

18. 2005. 3. 1(HD #8)  Mental status : alert mentality.  Lab finding T-BIL/D-BIL 0.53/0.20 mg/dL ALP 93 U/L AST/ALT 125/203 U/L Ammonia 129 ug/dL BUN/Cr 35/1.4 mg/dL Na/K/Cl 136/3.4/105 mmol/L  Management lactulose enema q6 hr Mannitol 15% 200 ml q 6 hr stop Phenytoin stop

19. 2005. 3. 3(HD #10) Transfer to Hepatology  Mental status : alert mentality.  Lab finding AST/ALT 70/104 U/L Ammonia 119 ug/dL BUN/Cr 35/1.4 mg/dL Na/K/Cl 136/3.4/105 mmol/L  Liver biopsy  Management lactulose enema q6 hr Protein restriction diet 0.8 mg/kg

20. Liver biopsy (05.3.3,HD#11)

23.   Impression - Defects in the Urea cycle - Secondary hyperammonemia d/t Organic acidemia - Reye syndrome ?   Diagnostic plan - Plasma aminoacid analysis - Urine aminoacid analysis - Urine Orotic acid level - Urine organic acic level - Enzyme assay Metabolic encephalopathy due to hyperammonemia

24. 286 735 Plasma Aminoacid analysis

25. Urine Aminoacid analysis 890 867 690

26.   urine orotic acid  negative   Urine organic acid  No elevated substance

27. Citrullinemia  FINAL DIAGNOSIS

28. Clinical course 2005. 3. 17 (HD #24)  Discharge  Mental stutus : alert mentality  Lab finding ammonia 134 ammonia 134 ug/dL Hypertriglyceridemia (TG 265  306  1439 mg/dL) Hypertriglyceridemia (TG 265  306  1439 mg/dL) Total cholesterol 264,HDL 20, LDL 38 (mg/dL) Total cholesterol 264,HDL 20, LDL 38 (mg/dL)  Management Protein restriction - protein free diet Protein restriction - protein free diet oral lactulose, arginine oral lactulose, arginine ASS enzyme essay & Gene study ASS enzyme essay & Gene study

29. Clinical course  mental stutus : alert  Lab T-BIL/D-BIL 0.53/0.20 mg/dL ALP 130 U/L AST/ALT 84/89 U/L Ammonia 150 ug /dL Prot/alb 7.3/3.5 Prot/alb 7.3/3.5 mg/dL  Management high protein diet (30 g/day  60 g/day) low carbohydrate diet high protein diet (30 g/day  60 g/day) low carbohydrate diet 1.oral lactulose 1.oral lactulose 2.arginine 2.arginine 3.sodium benzoate ? 3.sodium benzoate ? 2005. 3. 31 (OPD #37)  OPD F/U