Case conference 소화기 내과

History Chief complaint Abd. discomfort onset : 약 한달 전부터 Present illness 생후 6 개월 pneumonia 진단하에 입원치료 도중 지속적인 hepatomegaly, LFT 이상으로 liver biopsy 후 Glycogen storage disease 진단받은 19 세 남자환자로 14 세 이후 특별한 manage 없이 지내다가 군 입대 후 지속적인 abd. discomfort, distended abd. 증상으로 군병원에 입원 하여 시행한 abd.sono/abd. CT/liver MRI 에서 r/o hepatic adenoma 소견 보여 본원 소화기 내과로 의뢰되어 입원함 남 O 모 (M/19) adm. via OPD

Past Medical History DM / HTN / Tbc / Hepatitis ( - / - / + / -) miliary TB (+) : ‘99 po med Glycogen storage disease Type I or III Drug allergy (- ) OP Hx.(- ) Personal History Alcohol (- ) Smoking (- ) Family History

Review of system General fever (-) chills (-) fatigue (+)general weakness(-) Skinitching (-) rash (-)pigmentation(-) HEENT headache (-) dizziness (-) stiffness (-)sore throat (-) diplopia (-)visual disturbance (-) Cardiac dyspnea (-)chest pain (-) palpitation (-) Pulmoary dyspnea (-) cougn(-)sputum(-)

Review of system G-I nausea (-) vomiting(-) diarrhea (-) constipation (-) epigastric pain (-)anorexia (+) hematemesis(-) melena(-) hematochezia(-) abd. distension(+) abd. discomfort(+) Urinarydysuria(-) hematuria(-) frequency (-) nocturia(-) residual urine sense (-) M/Sarthralgia(-) Lt. knee pain(+) Neurologicdizziness(-) syncope(-)memory loss(-) sensory change(-) motor problem(-)

Physical examination Vital sign : 140/80 – 100/min – 20/min – 36.6 ºC Body Wt. : 61.7 kg / Ht.: cm / BMI : 23.2 kg/m 2 General appearance Alert consciousnessChronic ill-looking app. Skin manifestation Rash (- ) Pigmentation ( - / - )Jaundice (- ) Head and Neck Cx LN enlargement(-/-) Neck vein engorgement(-/-) Thyroid enlargement(-) Palpable neck mass(-) Eyes and ENT Isocoric pupil with PLR(++/++) Full EOM without nystagmus Conjunctivae (not pale) Sclerae (whitish)

Physical examination 163.1cm

Physical examination Chest Chest expansion : normal / symmetric Clear breathing sound without rale, wheezing Regular heart beat without murmur Abdomen Soft & distended abdomenNormoactive bowel sound Abd Td / RTd ( - / - ) No rigidity No palpable mass Hepatomegaly Back and extremities CVA tenderness( - / -)Pretibial pitting edema( - / - ) Knee joint Lt. : heating (+) swelling(-) Neurologic examination DTR (++/++) Cbll function test : intact Neck stiffness(-) Brudzinski’s sign(-)

Initial Laboratory findings CBC/DC (Seg 87.0 %) Coagulation pofile a-PTT 40.5 sec PT/ INR 13.1 sec / 0.98 ABGA – 36.9 mmHg – mmHg – 20.0 mmol/L- 97.5% lactic acid : mg/dL Chemistry Prot/Alb 9.1/5.1 g/dL Glucose 55 mg/dL AST/ALT 139/207 IU/L ALP 116 IU/L TB/DB 1.73/0.20 mg/dL rGT315 IU/L BUN/Cr 13/0.4 mg/dL Uric acid 14.3 mg/dL Na/K/Cl 136/4.3/91 mEq/L Total chol502 mg/dl Ca/P/Mg10.1/4.5/2.0 mg/dLLD/CK446/78 IU/L TG/H-DL/LDL 1788/56/188 mg/dL CRP5.8 mg/dl 11.2 g/dL 33.7 % 407K /mm 3 8,220 /mm 3

Routine Urinalysis with Microscopic exam S.G pH5.5 Glucose( - )Protein( 2+) Bilirubin( - )Urobilinogen(+/-) Nitrite( - )Ketone( - ) RBC 0-1/HPFWBC 2-4/HPF

EKG

Chest X-ray

Simple abd.

Initial problem list #1. hepatomegaly with elevated LFT #2. hyperuricemia #3. hyperlipidemia #4. proteinuria #5. anemia #6. pain & heating sensation of Lt. knee Glycogen storage disease r/o trauma, r/o gout Hepatic adenoma

fu loss 2009 pneumonia Miliary Tbc Short stature Hepatic adenoma Hepatomegaly Elevated LFT Liver biopsy Hepatomegaly Elevated LFT Liver biopsy Glycogen storage disease ( Type I or Type III ) sellar MRI Hormone assay GH treatment sellar MRI Hormone assay GH treatment 군병원 입원 Hepatomegaly Hepatic adenoma 군병원 입원 Hepatomegaly Hepatic adenoma Preivious Hx.

Diagnostic plan Glycogen storage disease hepatomegaly hepatic adenoma hyperuricemia hyperlipidemia hypercholesterolemia proteinuria lactic acidemia DNA study (type Ia) Type ? ( I or III? ) Hepatic adenoma Liver biopsy.. Enzymatic assay.. debrancher enzyme activity.. Liver CT / Liver MRI Liver biopsy Tumor marker Etc… 24h urine, microalbuminruia BMD, Lt. knee sono

Therapeutic plan DIET Uncooked cornstarch Lactose, galactose, fructose,sucrose Mineral, Vitamine, etc Bicarbonate, urine alkalization ACE inhibitor allopurinol Hyperuricemia Lactic acidosis Renal disease Hyperlipidemia Statin, diet Hepatic adenoma Fu or Liver transplantation

Viral marker HBs Ag(-) Anti HBs Ab(-) Anti- HCV Ab(-) Anti- HIV Ab(-) Tumor marker AFP1.38 ng/mL CA mAU/mL CEA1.12 mAU/mL

Liver CT ( 외부 )

Liver MRI

Lt. knee x-ray & sono.