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Recurrent vomiting
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Recurrent vomiting






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Recurrent vomiting Recurrent vomiting Presentation Transcript

  • Recurrent Vomiting Presenter : Vibhor Borkar - SGPGI, Lucknow Moderator: Ujjal Poddar - Pediatric Gastroenterologist, SGPGI, Lucknow Panelists: Priya Kishnani – Pediatrician & Geneticist, Duke University, North Carolina, USA John Matthai – Pediatric Gastroenterologist, PSG Inst. of Medl Sciences, Coimbatore Archana Kher – Pediatrician, Columbia Asia, Pune
  • Recurrent Vomiting Dr Vibhor Borkar Senior Resident (DM) Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • 1 ½ yr boy, brought with complaints of: • 4 discrete episodes of intense vomiting followed by respiratory distress and lethargy • Always preceded by febrile illness • In-between completely normal
  • Boy 1 ½ year Born out of 3rd consanguinous marriage Developmentally normal Asymptomatic in between No regression of mile stones Lethargy IV fluids IV fluids Lethargy Vomiting (8-10/day, non-bilious) Vomiting Asymptomatic Fever Feb 2013 2- 3 days 2- 3 days April 2013
  • No f/h/o seizures, migraine Contd…… GTCs- 3 times Acidotic breathing IV fluids Bicarbonate Antibiotics CSF analysis- Normal Na, Cal, Hypoglycemia Urine Ketones - positive Vomiting Lethargy Fever June 2013 2- 3 days Asymptomatic SGPGI IV fluids Acidotic breathing Fever Vomiting, Lethargy November 2013
  • 10 yr •MR •Short stature •Obesity
  • Examination • Lethargic • RR: 42/ min, no retractions • HR: 180/ min, feeble pulses • Cold extremities, • Delayed CFT • No pallor, icterus, cyanosis, clubbing, edema Observe Expecte %centil d d e Weight 10kg 11 kg 25th Height 80 cm 84 cm 50th OFC 47 cm 48 cm 25-50th No facial dysmorphism Anterior and posterior fontanellesclosed No h/o any specific body odor
  • Examination contd… P A 7 cm 4 cm • CNS: Lethargic Pupils 3 mm equal size and reacting to light. Muscle tone- normal. Deep tendon reflexes: 2+, No s/o meningitis • CVS: Normal • RS: Normal.
  • Possibilities ? Cyclical vomiting syndrome Inborn error of metabolism: Urea cycle defects Organic acidurias Respiratory chain defects Fatty acid oxidation defects Malrotation of gut with intermittent volvulus
  • Possibilities? ➢ Some transaminitis ➢ Normal serum ammonia ➢ Hypoglycemia with ketonuria ➢ Metabolic acidosis with high anion gap ➢ High serum lactate
  • Other Investigations • CBC: normal • CSF analysis (June 2013): Normal • Urine GCMS- Increased secretion of methylhydroxy butyric acid, acetoacetic acid and other organic acids. • Urine amino acids: Normal. • Carnitine / Acyl carnitine profile- normal. Liver biopsy: Focal steatosis, mild mononuclear cells infiltrates
  • Possibilities? ❖ Fatty acid oxidation defect/urea cycle defect vs. ❖ Organic aciduria ➢Hypoglycemia but no ketonuria with high ammonia vs. ➢Hypoglycemia with ketonuria, high anion gap metabolic acidosis
  • Final diagnosis Organic aciduriaHigh anion gap metabolic acidosis ❖ Increased lactate ❖ Hypoglycemia ❖ Ketonuria ❖ Normal blood ammonia ❖ Increased organic acids in urine ❖ Normal carnitine profile ❖ ❖ Steatosis on liver biopsy
  • Organic acidemia Condition Urine Ammonia ketones Lactate Glucose Propionic acidemia Very High (>100µM) normal High/Nl/ Low ++++ (Massive) Methylmalonenic acidemia Isovaleric acidemia Carboxylase deficiency ++ High Very High normal HMG CoA Lyase def Absent High/Nl High Low Beta ketothiolase def ++ High/Nl normal Low
  • Final diagnosis Organic aciduria--- ? Beta ketothiolase deficiency