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A 17 month old child with periodic Vomiting

This case study discusses the presenting symptoms, positive findings, and differential diagnosis for a 17-month-old child with periodic vomiting, hyperuricemia, hypertriglyceridemia, and developmental delay. The approach to vomiting and metabolic acidosis, as well as the causes of hyperuricemia and hypertriglyceridemia, are explored. The differential diagnosis includes genetic metabolic disorders, organic acidemias, and glycogen storage diseases. Management strategies and diagnostic considerations are also discussed.

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A 17 month old child with periodic Vomiting

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  1. A 17 month old child withperiodic Vomiting F.Ahmadabadi MD Child Neurologist

  2. Positive findings • Episodic Vomiting • Periodic Acidosis • Developmental delay • Hyper uricemia • Hyper triglyceridemia • Organomegaly (Splenomegaly) • Pancytopenia (Cyclic)

  3. Approach to Vomiting • I Increased ICP • V Vascular • O Obstruction • M Metabolic disorders • I Infections • T Trauma-Toxins

  4. Metabolic acidosis • Metabolic acidosis • AG=Na +K-(Cl+HCO3)=140+5-(109+4)=32 We have a high anion gap Acidosis

  5. Causes of Hyperuricemia • Alcoholic Ketoacidosis • Diabetic Ketoacidosis • Glycogen Storage Disease, Type Ia-TypeVII • Gout • Hemolytic Anemia • Hodgkin Disease • Hyperparathyroidism • Hypothyroidism • Nephrolithiasis • Nephropathy, Uric Acid • MCAD • Barth syndrome 3-methylglutaconic aciduria • Fanconi –Bickel syndrome

  6. Causes of Hypertriglyceridemia • Type 2 diabetes mellitus • Cholestatic liver diseases • Nephrotic syndrome • Chronic renal failure • Hypothyroidism • Cigarette smoking • GSD1 • Drugs • LPL Deficiency • Glycerol kinase deficiency • Lecithin cholesterol acyltransferase deficiency(LCAT)

  7. Differential Diagnosis • GSD s • Organic acidemia • Fatty acid oxidation disorders • Acute metabolic decomponsation • Chronic involvement of tissues • Recurrent episodes of hypoketotic hypoglycemia • Alteration in total carnitine

  8. Differentia diagnosis GSDs Organic acidemia Acidosis Pancytopenia MS/MS NDD Vomiting Hyper ammonemia But high TG & Uric acid don’t confirm it • Organomegaly • Hypertriglyceridemia • Hyperuricemia • Acidosis • NDD • Neutropenia But abcense of Hypoglycemia and normal facies is against it

  9. G6P deficiency(GSD type I) • Ia • Enlargedf liver and Kidneys • Hyperlipidemia • Hypoglycemia • Ketoacidosis • Seizure • FTT • TG and Uric acid High • Renal involvement • Ib • Neutropenia • Epinephrin Test

  10. Debrancher deficiency(GSD III ) • Hepatomegaly • Hypoglycemia • Short stature • Myopathy • Cardiomyopath • Splenomegaly • No kidney enlargement • Normal uric acid • PCO • IIIa:Liver & Muscle • III b:liver

  11. GSD VI (Phosphorylase deficiency) • Lactic and Uric acid normal • No cardiac or Muscular involvement • FTT • Hypertriglyceridemia • Hypoglycemia • Benign

  12. Organic acidemias (3.7 per 100,000) • Propionic acidemia • Methyl malonicacidemia • Isovaleric acidemia • Glutaric aciduria

  13. Management • Liver Biopsy • Urine Organic acids • EMG-NCV

  14. Control of Hypoglycemia • Control of Hyper ammonemia • Correct the acidosis • Correct the Liver function

  15. Remarks :MS/MS • The most important part is Carnitine profile. • It is performed on Plasma or serum. • Urine has not diagnostic value. • Preferred specimen Collected after 6 h fasting or in acute illness • In marked carnitinedeficiencyLoad patient with carnitine

  16. Cont, • Antibiotics containing the Pivaloyl group(Pivoxilsulbactam)  False elevation of C5 • MCT oil  Elevation of C8-C10 • Carnitine C2(Acethyl) ,C3 (Propionyl) • Prolonged fasting  Increased C2 ,OH-C4 • Lactic acidosis  Elevates C3

  17. Cont, • Higherthan normal level of Free carnitine has not diagnostic value except CPT1 Def and severe cardiomyopathy. • Carnitine level is high at birth then fall to half the adult value and normalized after a few months. • Minor elevation(<1.5xUNL) of a single metabolite is not diagnostic. • MCAD & VLCAD  Carnitine deficiency

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