GA: A male infant, active, BW 4.91 kg (P 50 ), Lt 58.5 cm (P ), OFC 36.5 cm (P ) 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 fontanelle 1X1 cm not tensed, posterior fontanelle finger tip, no enlarged tonsil, no injected pharynx, tympanic membrane intact both sides
Heart: regular rhythm, normal S 1 and S 2, no murmur Lungs: clear and equal breath sound Abdomen: mild distension, active bowel sound, soft, no mass, liver 2 cm below right costal margin, liver span 7 cm, spleen can’t be palpated Extremities: no deformity, no edema
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
Recurrent sepsis Metabolic acidosis History of consangunity
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
I II III IV
A 2-month male infant with History of sepsis - Postive hemoculture for coagulase-neg Staphylococci 1 specimen, hypotension, mottling Acidosis Hepatomegaly History of consanguinity
Severe PAS (+, glycogen material)/PAS with diastase (+, digested) Consistent with glycogen storage disease (GSD)
H&E X 160
PAS X 160 PAS with Diastase X 160
Hemoculture: no growth X 2 specimens Stool culture: no Salmonella and Shigella
Definition - Absolute neutrophil count (ANC) < 1,000/mm 3 in infants - ANC < 1,500/mm 3 in children and adolescents Lanzkowsky Manaul of Pediatric Hematology and Oncology, 5 th ed.
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 associated chronic illness A history of recent infection and drug exposure Nathan and Oski’s Hematology of Infancy and Childhood, 7 th ed.
Acidosis, Hypoglycemia Glycogen storage disease Ib Isovaleric acidemia Maple syrup urine disease Hepatomegaly Methymalonic acidemia Proprionic acidemia No hepatomegaly Characteristic odor No Yes Lanzkowsky Manaul of Pediatric Hematology and Oncology, 5 th ed. Nelson Textbook of Pediatrics, 19 th ed.
Von Gierke disease Rare inherited diseases resulting from a defect in the glucose-6- phosphatase (G6Pase) system - GSD type Ia; defect of Glucose-6- phosphatase alpha (G6PC) - GSD type Ib; defect of Glucose-6- phosphate translocase (G6PT) Nelson Textbook of Pediatrics, 19 th ed. Froissart R, et al. OJRD
Chou JY, et al. Nature Reviews Endocrinology
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 Segel GB, Halterman JS, Pediatr Rev
Main diagnostic criteria Hepatomegaly (around 3 months of age) Fast-induced hypoglycemia Hyperlactacidemia Hyperlipidemia Neutropenia Froissart R, et al. OJRD
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
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
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 Nelson Textbook of Pediatrics, 19 th ed.