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2006/10/31 小兒急診 PED Case Conference 指導：兒科急診主治醫師 吳昌騰 報告：家醫科住院醫師 莊海華.

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Presentation on theme: "2006/10/31 小兒急診 PED Case Conference 指導：兒科急診主治醫師 吳昌騰 報告：家醫科住院醫師 莊海華."— Presentation transcript:

1 2006/10/31 小兒急診 PED Case Conference 指導：兒科急診主治醫師 吳昌騰 報告：家醫科住院醫師 莊海華

2 2006/10/31 小兒急診 Outline  Case presentation  Maple syrup urine disease

3 2006/10/31 小兒急診 Basic Patient Profiles Chart number: 20768731 Name: 陳 X 平 Sex: male Birth date: 2004/11/9 Age: 1-year-11-month-old Body weight: 10.3 kg (3rd-10th percentile)

4 2006/10/31 小兒急診 Pediatric Assessment Triangle Appearance: mildly ill looking, psychomotor retardation Breathing: smooth, no dyspnea Circulation: normal skin color, CRT< 2s

5 2006/10/31 小兒急診 Chief complaint Fever for 2 days

6 2006/10/31 小兒急診 Present illness Fever, intermittent, subsided after LMD medication Mild cough, for 1 week Appetite: decreased Activity: decreased Constipation, no vomiting

7 2006/10/31 小兒急診 Past History Maple syrup urine disease Brain abscess with seizure s/p OP

8 2006/10/31 小兒急診 Physical Examination Appearance: Mildly ill-looking Consciousness: clear Head: scar over right skull Eyes: sclera not icteric; conjunctiva not anemic or not injected Ears: ear drums not injected Neck: supple, no palpable mass Throat: mildly injected

9 2006/10/31 小兒急診 Physical Examination Symmetric expansion, no signs of respiratory distress, no dyspnea Breathing sound: clear Heart sound: regular heart beats without murmur Soft and flat, no tenderness, no rebounding pain Movable, mildly rigid

10 2006/10/31 小兒急診 Initial Impression Fever r/o URI

11 2006/10/31 小兒急診 Management CBC 、 D/C 、 Sugar 、 BUN 、 Cr 、 AST(GOT) 、 ALT 、 Na 、 K 、 CRP Chest x-ray Abdominal echo

12 2006/10/31 小兒急診 CXR

13 2006/10/31 小兒急診 Abdominal echo No abnormal finding

14 2006/10/31 小兒急診 Laboratory Data Blood 2006/10/04 12:41  WBC: 11.2 (6.7-11.8 1000/uL)  RBC: 5.71 (4.28-5.05 million/uL)  Hemoglobin: 12.8 (11.6-13.7 g/dL)  Hematocrit: 39.1 (34.2-39.8 %)  MCV: 68.5 (74.9-84.6 fL)  MCH: 22.4 (25.2-29.1 pg/cell)  MCHC: 32.7 (32.6-35.1 g/dL)  RDW: 16.8 (11.5-14.5 %)  Platelets: 242 (150-400 1000/uL)  Segment: 69.9 (13.9-49.5 %)  Lymphcyte: 21.5 (44.7-81.6 %)  Monocyte: 8.4 (1.3-7.2 %)  Eosinophil: 0.0 (0.0-4.3 %)  Basophil: 0.2 (0-1 %)

15 2006/10/31 小兒急診 Laboratory Data Biochemistry 2006/10/04 12:41  Sugar: 77 (70-105 mg/dL)  BUN: 7 (5-20 mg/dL)  Cr: 0.4 (0.2-1.0 mg/dL)  AST(GOT): 24 (9-80 U/L)  ALT(GPT): 28 (7-40 U/L)  Na: 136 (133-146 meq/L)  K: 4.3 (3.5-5.1 meq/L)  CRP: 36.4 (<5 mg/L)

16 2006/10/31 小兒急診 Disposition Discharge the patient Medication: AMD tab 1/4 pc QID Lactobacillus 1pc BID Metoclopramide syrup 1ml QID

17 2006/10/31 小兒急診 However… The patient was brought to the PED again 8hrs 30mins later

18 2006/10/31 小兒急診 2nd PED Visit Chief complaint: convulsion just now Present illness: upward gaze and shaking head Impression: convulsion Medication: Diazepam 3mg STAT Admission

19 2006/10/31 小兒急診 Laboratory Data Biochemistry 2006/10/04 20:52  Phenobarbital: 8.4 (15-40ug/mL) Biochemistry 2006/10/05  Ammonia: 64 (<170ug/mL)  Blood ketone: 2+ (negative)  CRP: 39.05 (<5 mg/L)  Pyruvate: 0.31 (0.3-0.9 mg/dL)  Lactate: 9.3 (5.7-22 mg/dL) Biochemistry 2006/10/09  CRP: 4.1 (<5 mg/L)  Phenobarbital: 16.3 (15-40ug/mL)

20 2006/10/31 小兒急診 Laboratory Data Blood 2006/10/05 15:31  WBC: 4.5 (6.7-11.8 1000/uL)  RBC: 5.27 (4.28-5.05 million/uL)  Hemoglobin: 11.5 (11.6-13.7 g/dL)  Hematocrit: 35.7 (34.2-39.8 %)  MCV: 67.7 (74.9-84.6 fL)  MCH: 21.8 (25.2-29.1 pg/cell)  MCHC: 32.2 (32.6-35.1 g/dL)  RDW: 16.6 (11.5-14.5 %)  Platelets: 250 (150-400 1000/uL)  Segment: 70.1 (13.9-49.5 %)  Lymphcyte: 24.4 (44.7-81.6 %)  Monocyte: 5.3 (1.3-7.2 %)  Eosinophil: 0.0 (0.0-4.3 %)  Basophil: 0.2 (0-1 %)

21 2006/10/31 小兒急診 Diagnosis at Discharge 2006/10/04 – 2006/10/09 Seizure disorder, r/o febrile convulsion, r/o epilepsy Bronchopneumonia Maple syrup urine disease Brain abscess s/o operation Developmental delay

22 2006/10/31 小兒急診 Maple Syrup Urine Disease = Branched Chain Ketoaciduria

23 2006/10/31 小兒急診 Epidemiology 1 in 185,000 infants worldwide 1 in 120,000 in Europeans 1 in 250,000 in USA 1 in 450,000 in Japan In Taiwan? 50% in aboriginals

24 2006/10/31 小兒急診 Pathophysiology Branched amino acids:  leucine ( 亮氨酸, 白氨酸 )  isoleucine ( 異亮氨酸, 異白氨酸 )  valine ( 纈草胺酸 ) -> (aminotransferase) alpha-ketoacids -> (BCKD) branched-chain acyl-CoAs.

25 2006/10/31 小兒急診 Genetics autosomal recessive BCKD complex components: E1-alpha, E1-beta, E2, and E3 mapped to human chromosomes 19q13.1- q13.2, 6p22-p21, 1p31, and 7q31-q32

26 2006/10/31 小兒急診 Clinical Features Within 48 hours of birth  irritability, poor feeding, vomiting, lethargy, and dystonia 4 days of age  neurologic abnormalities include alternating lethargy and irritability, dystonia, apnea, seizures, and signs of cerebral edema

27 2006/10/31 小兒急診 Clinical Features Episodes of metabolic intoxication  Often caused by increased catabolism of endogenous protein that may be induced by intercurrent illness, or by exercise, injury, surgery, or fasting  Epigastric pain, vomiting, anorexia, and muscle fatigue  Neurologic signs: hyperactivity, sleep disturbance, stupor, decreased cognitive function, dystonia, and ataxia  Death: cerebral edema and herniation

28 2006/10/31 小兒急診 Variations of the Disease Classic Severe MSUD Intermediate MSUD Intermittent MSUD Thiamine-responsive MSUD E3-Deficient MSUD

29 2006/10/31 小兒急診 Diagnosis Prenatal  Enzyme activity  Mutation analysis Newborn screen  Tandem mass spectrometry Currently in Taiwan  Plasma level of Leu, Ile, Val  Urine level of branched-chain ketoacids, lactate, and pyruvate

30 2006/10/31 小兒急診 Management Dietary therapy Goal: to achieve normal plasma concentrations of branched-chain amino acids, especially leucine Restricting intake of branched-chain amino acids food throughout life Monitoring of plasma amino acid concentrations every one to two weeks for the first 6 to 12 months of age Thiamine (50 to 300 mg/kg) for four weeks Sodium chloride to help maintain serum sodium concentration

31 2006/10/31 小兒急診 Management Metabolic decompensation Needs to be treated aggressively Plasma and tissue concentrations of leucine should be lowered rapidly Hyponatremic cerebral edema should be treated with hypertonic saline, mannitol, and furosemide Hemodialysis or peritoneal dialysis may be needed to remove branched-chain amino acids and keto-acids

32 2006/10/31 小兒急診 Outcome Normal outcome is possible Cognitive outcome: related to leucine level Other CNS sequelae Death

33 2006/10/31 小兒急診 Thanks for your attention! Questions and comments?

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