1. 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
2. Recurrent Vomiting
Dr Vibhor Borkar
Senior Resident (DM)
Department of Pediatric Gastroenterology,
Sanjay Gandhi Postgraduate Institute of Medical Sciences,
Lucknow, India.
3. 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
4. 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
5. 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
7. 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
8. 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.
9. 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
10.
11. Possibilities?
➢ Some transaminitis
➢ Normal serum ammonia
➢ Hypoglycemia with ketonuria
➢ Metabolic acidosis with high anion gap
➢ High serum lactate
12. 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
13. 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
14. 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
