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Case presentation

Case presentation. 본 3 8 조 100 번 전천후. 박성민 #4292809 M/8Y1M. Chief complaint : Bradycardia , desaturation, hypothermia For 1 month Present illness

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Case presentation

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  1. Case presentation 본3 8조 100번 전천후

  2. 박성민 #4292809 M/8Y1M • Chief complaint : Bradycardia, desaturation, hypothermia • For 1 month • Present illness • 상기 8년 1개월 된 남자 환아 IUP 36wks, 2.5kg, NSVD 된 환아로 산전, 출생 시 특이 소견 없었으며 생후 3개월 경 pneumonia 로 입원 후회복, 그 후 GT type 1~2분 가량의 seizure 있어 청주소아병원에서 수면경련 진단 후 3년간 medication으로 조절하였음. 그 후 3년 전부터 cyanosis, desaturation 반복되어 삼성병원에서 EEG 시행했으나 이상소견 없고, 원인 찾지 못하던 중 bradycardia생겨 소아심장과에서holter검사 3회 시행하였으나 특별한 원인 찾지 못한 상태로 1년 전 청주소아병원에서 routine으로 시행한 피검사, 소변검사 상 미토콘드리아병 의심된다는 소리 듣고 삼성병원에서 muscle Bx시행하여 mitochondrial myopathy소견 나왔으나 확진할 수 없다는 말 듣고 본원 외래 내원하여 확진 받고 f/u중인 환아로 평소에도 1주일에 4~5번 정도 desaturation 및 bradycardia소견 관찰되어 여러 차례 evaluation 및 management 위해 입원 하였으며, 내원 일주일전부터 bradycardia, desaturation 빈도 증가 및 저체온증 동반하여 further evaluation 위하여 입원함

  3. History • HTN/Pul.Tbc/DM/Hepatitis (-/-/-/-) • Drug allergy (-) • Family history : none

  4. Review of system (2012.04.09) • Generalized Weakness: (-/-) • Fatigue: (-) • Fever/Chill: (-/-) • Headache /Dizziness: (-/-) • Insomnia: (-) • Cough: (-) • Sputum: (-) • Dyspnea: (+) 3~4/day • DOE: (-) • Chest pain /Palpitation: (-/-) • Hemoptysis/Hematemesis: (-/-) • Anorexia: (-) • Nausea/Vomiting: (-/-) • Constipation / Diarrhea: (-/-) • Abdominal pain/discomfort: (-/-) • Hematochezia/ Melena: (-/-) • Dysuria/Oliguria/Hematuria: (-/-/-) • Poor oral intake: (-) • Weight loss/gain: (-/-)

  5. Physical examination (2012.04.09) • Height : 132.4cm (75-90p) Weight : 47kg (50-75p) • Vital sign • BP : 123/72 mmHg • PR : 105 /min • BT : 36.5 ℃ • RR : 24 /min • General Appearance • Chronic ill-looking appearance • Mental status: Alert • Nutritional status: Good • Skin • Warm and wet, Good turgor • No abnormal rash • HEENT • Normocephaly without deformity • Neck • No specific finding • Chest/Lung • Symmetric expansion : yes • Retraction : no • Breath sounds : clear • Wheezing, rhonchi : no • Heart • Regular heart beat without murmur • No thrill and heaving • Back & Extremity • Proximal weakness (+) • Abdomen • Soft and flat • Normoative bowel sound • Tenderness (-) • Others • Gower’s sign (+) • Dysphagia (+) • Urinary incontinence (+)

  6. Impression • Bradycardia • Delayed development • Mitochondrial myopathy • Neurogenic bladder • Plan • Routine lab • Extremity CT • Vital monitoring

  7. Chest PA (2012.04.09)

  8. EKG (2012.04.09)

  9. Initial lab (2012.04.09) • C’ 11660 / 13.8 / 40.4 / 454k • E’ 138 / 4.6 / 103 / 19 • Lactate dehydrogenase 625 IU/L • ESR 36 mm/hr • CRP 1.6 mg/L • Lactate 1.2 mmol/L • Pyruvate 1.7 mg/dL • Bacterial culture : No growth for 2 days in 2 blood samples • U/A : No specific finding

  10. Progress • HOD#2 (2012.04.10) • PWV/ABI 시행 : 특이소견 없음 • Rt. Arm 126 / 69 (MAP 90) Lt. Arm 125 / 65 (MAP 86) • Rt. Ankle 123 / 67 (MAP 92) Lt. Ankle 128 / 65 (MAP 91) • baPWV : Rt. 1012 cm/s / Lt. 1074 cm/s • HOD#

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