Interhospital Conference

Interhospital Conference

Interhospital Conference Department of Pediatrics, Faculty of Medicine, Chiang Mai University Identification Data 2 . .

Chief Complaint 2 Present Illness 2 DPT1-HBV2 OPV1 1

Present Illness 4 4-5

V/S: BT 39.5 C, BP couldnt be measured, RR 50-60 breaths/min, PR 180 Present Illness fluid resuscitation Cefotaxime 300 mg/kg/day arterial blood gas

pH 6.727, PaCO2 18.1 mmHg, PaO2 168.2 mmHg, HCO3- 2.2 mEq/L, BE -29.3, DTX Present Illness PE: BT 38 C, BP 93/57 mmHg, RR 52 breaths/min, PR 152 beats/min, lungs wheezing both lungs,

liver 2.5 cm below RCM, spleen couldnt be palpated LP: CSF sugar 138/295 mg/dL, protein 64.8 mg/dL, CSF culture no growth Hemoculture: coagulase-neg Staphylococci 1 specimen, urine culture no growth Present Illness 4

Cefotaxime 300 mg/kg/day , IV fluid, PRC transfusion 1 , 7.5% NaHCO3 2 Past History Antenatal period:

Perinatal and neonatal period: 37+5 cesarean section cephalopelvic disproportio Family History

Physical Examination GA: A male infant, active, BW 4.91 kg (P50), Lt 58.5 cm (P50-75), OFC 36.5 cm (P25-50) V/S: BT 36.7 C, BP 106/58 mmHg, RR 48 breaths/min, PR 118 beats/min

HEENT: no pale conjunctivae, no icteric sclerae, anterior Physical Examination Heart: regular rhythm, normal S1 and S2, no murmur Lungs: clear and equal breath sound

Abdomen: mild distension, active bowel sound, soft, no mass, liver 2 cm below righ t costal margin, liver span 7 cm, spleen cant be palpated Extremities: no deformity, no Physical Examination

Skin: no rash Neurological examination: motor power grade V all extremities, deep tendon reflex 2+ all area, pupil 3 mm RTL BE, no facial palsy Problem List Recurrent sepsis Metabolic acidosis

History of consangunity Problem List A 2-month male infant with History of sepsis - Postive hemoculture for coagulase-neg Staphylococci 1 specimen, hypotension, mottling Suspect a seizure episode Acidosis Hepatomegaly Family History I

II III IV Problem List A 2-month male infant with History of sepsis - Postive hemoculture for coagulase-neg Staphylococci 1 specimen, hypotension, mottling Acidosis

Hepatomegaly History of consanguinity Differential Diagnoses Investigation Lik e Lik e Lik e

Lik e Lik e Lik e Lik e Lik e

Lik e Complete Blood Count Hb 10.3 g/dL, Hct 34.2%, WBC 5,100 cells/mm3, Neutrophils 14%, eosinophils 4%, basophils 1%, lymphocytes 74%, monocytes 6%,

Platelets 181,000/mm3 RBC 4X106 cells/mm3 MCV 86 fL, MCH 26.2 pg, MCHC 30.3 g/dL, RDW 14.2% Peripheral Blood Smear Normochromic normocytic RBC Normal number of WBC, lymphocyte predominate, no blast seen

Normal platelet count, normal size and staining of platelets Blood Chemistry BUN 4 mg/dL, Cr 0.5 mg/dL, Na 141 mmol/L, K 5 mmol/L, Cl 107 mmol/L, HCO3- 18 mmol/L, Glucose 20 mg/dL (non-fasting)

Ca 9.7 mg/dL, P 3.8 mg/dL, Mg 2.09 mg/dL Liver Function Test Total protein 6.3 g/dL, albumin 3.6 g/dL, globulin 2.7 g/dL, ALP 375 U/L, Cholesterol 172 mg/dL,

AST 216 U/L, ALT 55 U/L, Total bilirubin 0.81 mg/dL, direct bilirubin 0.23 mg/dL Bone Marrow Examination Bone Marrow Examination Bone Marrow Examination Normal cellularity, normal megakaryocytic, myeloid and

erythroid series, M:E = 5:1 , decreased segmented form, blast < 5% Impression: decreased segmented form Capillary Blood Gas pH 7.428, pO2 63 mmHg, O2sat 92.7%, pCO2 30.4 mmHg, HCO3- 20.3 mmol/L, BE -2.5

Other Laboratory Test Blood ammonia 212 micromol/L (18-74), Blood lactate 7.34 mmol/L (1.1-2.3), Triglyceride 670 mg/dL (< 200) Liver Biopsy

Severe PAS (+, glycogen material)/PAS with diastase (+, digested) Consistent with glycogen storage disease (GSD) Liver Biopsy

H&E X 160 Liver Biopsy H&E X 160 PAS with Diastase X PAS X 160 Culture Results

Hemoculture: no growth X 2 specimens Stool culture: no Salmonella and Shigella Neutropenia in Children Definition - Absolute neutrophil count (ANC) < 1,000/mm3 in infants - ANC < 1,500/mm3 in children and adolescents

Lanzkowsky Manaul of Pediatric th Evaluation of Patients with Neutropenia History and physical examination emphasis on Related phenotypic abnormalities Determination of bacterial

infection is present Evaluation of lymphadenopathy, hepatosplenomegaly and any other sign of an underlying Nathan and Oskis Hematology of associated chronic illness th Acidosis, Hypoglycemia No hepatomegaly

Hepatomegaly Lanzkowsky Manaul of Pediatric Hematology and Oncology, 5th ed. Nelson Textbook of Pediatrics, 19th ed. Glycogen storage disease Ib Characteristic odor Yes No Methymalonic acidemia Proprionic acidemia

Isovaleric acidemia Maple syrup urine disease GSD Type I Von Gierke disease Rare inherited diseases resulting from a defect in the glucose-6phosphatase (G6Pase) system - GSD type Ia; defect of Glucose-6phosphatase alpha (G6PC) - GSD type Ib; defect of Glucose-6phosphate translocase (G6PT) Nelson Textbook of Pediatrics, 19th ed.

GSD Type I Chou JY, et al. Nature Reviews GSD Type I Annual incidence of around 1/100,000 births - GSD type Ia 80% Autosomal recessive inheritance The risk of recurrence is 25% at

each pregnancy. Froissart R, et al. OJRD. 2011. GSD Type Ib Main diagnostic criteria Hepatomegaly (around 3

months of age) Fast-induced hypoglycemia Hyperlactacidemia Hyperlipidemia Neutropenia Froissart R, et al. OJRD. Neutropenia in GSD Type Ib Unknown mechanism

Not to be due to defect in bone marrow production Also abnormal neutrophils and/or monocytes functions - Decrease in respiratory burst and motility in response to stimuli - Recurrent infections, mucosal ulcerations and inflammatory bowel diseases (70% of adulthood) Froissart R, et al. OJRD. GSD Type Ib

Mutation in G6PT gene (SLC37A4) on chromosome 11 at 11q23 Over 160 patients reported worldwide, more than 81 mutations identified (40% missence mutation) Froissart R, et al. OJRD. Treatment for GSD Type Ib

Preventing hypoglycemia - Continuous nocturnal nasogastric drip feeding - Slow-absorption carbohydrates; uncooked starch G-CSF 5 mcg/kg/dose two to three weekly injection Liver transplantation in patients who are refractory to medical treatment, liver malignancy, multiple liver adenomas and liver failure Froissart R, et al. OJRD.

2011. Progression Date 28/10 2/11/ 4/11/ /53 53 53 Hb 10.3 8.4 8.6 Hct 34.2 25.2 26.8

WBC 5,100 8,000 15,90 0 Platelets 181,0 245,0 268,0 00 00 00 Neutroph 14 6 3 ils Lymphoc 74 64

85 ytes Monocyt 6 18 8 6/11/ 53 9.0 26.6 12,40 0 241,0 00

17 10/11 /53 8.5 26.1 11,30 0 215,0 00 28.9 15/1 2/53 9.7

30.3 7,00 0 279, 000 12.8 64.3 61.1 81 14.6

2.4 2.1 Progression Continuous formula drip via nasogastric tube plus uncooked corn starch Genetic counseling Last follow up at age 1 year 6

month BW 10.5 Kg (P25-50), Ht 76 cm (P3) Hb 11.1 g/dL, Hct 34.4%, WBC 3 Progression Last follow up at age 1 year 6 month BW 10.5 Kg (P10), Ht 76 cm (P3) Hb 11.1 g/dL, Hct 34.4%, WBC 4,710 cells/mm3, Neutrophils 18.1% (ANC 853 cells/mm3), Platelets 305,000/mm3

Blood lactate 6.04 mmol/L (0.8-1.5), Thank You For Your Attention

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