CASE PRESENTATION

Dr Ananya Sampath
 DEMOGRAHPIC DETAILS
• Name: B/O Anitha
• Father: Yuvraj
• Gender: Male
• Birth order : 2
• DOB: 29/9/17 at Sridevi hospital, Tumkur
• DOA : 24/10/17 (D26)
• Address : Ballapura village, Tumkur
 PRESENTING COMPLAINT
• Vomiting since D19 of life
• Fever since since D23 of life
• Lethargy since D23 of life
• Refusal of feeds since D23 of life
 ANTENATAL AND NATAL HISTORY
• P2L2 mother (23years)
• Antenatal history uneventful
• LMP- 20/12/16; EDD-27/9/17
• Full Term( 40weeks), Spontaneous normal
vaginal delivery, BCIAB, breast fed within 1
hour, BW- 3.3kg
• Baby with mother at home feeding well and
doing well till D19 of life
 FAMILY HISTORY
28 Years 23 years
20 cm

4 years
 EXAMINATION
• At admission,
• Weight – 3 kg; GRBS- 58mg/dl
• Baby was euthermic, hemodynamically stable.
• Lethargic, limp, feeble cry
• Poor sucking
• Hypotonia in all 4 limbs, diminished reflexes
 SUMMARY
• 2nd born male child to a 2nd degree CM with
uneventful antenatal, perinatal and family
history brought on D26 of life with h/o
vomiting, lethargy, refusal of feeds and fever.
• Examination findings being consistent with
encephalopathy
 DIFFERENTIAL DIAGNOSIS
• Meningoencephalitis
• Sepsis
• Intracranial hemorrhage
• Inborn error of metabolism
 COURSE IN THE HOSPITAL
• Baby had two referrals and at admission baby found to
have convulsions and altered sensorium and poor
respiratory efforts i/v/o which baby intubated and
mechanically ventillated
• Baby loaded with anticonvulsants and antibiotics started
which were stopped after culture reports came negative
• Initial investigations done showed normoglycemia,
neutropenia, normal crp, metabolic acidosis. CSF analysis
was normal.
• Baby was on ng feeds. Ammonia, lactate sent showed
hyperammonemia (797 mcg/dl)
 COURSE IN HOSPITAL (Contd)
• i/v/o persistent poor sensorium, hyperammonemia
peritoneal dialysis initiated, baby kept npo after sending
tms and urinary gcms.56 cycles of peritoneal dialysis done.
• Baby weaned off mechanical ventilator in 5 days
• Other measures to reduce hyperammonemia taken and
repeat ammonia levels after 48 hours of pd was 38
• Baby also developed polyuria transiently which was
corrected after fluid restriction
• Baby started on special diet and improved symptomatically
 INVESTIGATIONS
24/10/17 26/10/17 26/10/17
Hb- 13.3 HB- 11.6
TC- 2000, P58 TC-6100, P76
PCV- 40.7 PCV- 33.8
MCV- 102 MCV- 96.1
PLT- 3,82,000 PLT- 1,38,000
iCa- 3.6
Urea- 47; Creat- 0.66
Na-138; K-5.2; Cl- 102
Ph- 7.27 7.227 7.39
pCo2- 18 20.2 28.7
pO2- 44.9 60.8 143.4
HCO3-8.5 8.1 17
BE- (-15.2) -17.2 -6.4
 INVESTIGATIONS
• CSF Analysis- nil cells; glu- 63; prot- 181
• CRP – 7.2
• C/S – no growth
• Ammonia- 797 38 27
• USG Cranium- normal study
• USG abdomen – normal
• EEG – normal
• OAE – b/l pass
• TMS and urinary GCMS s/o Methyl Malonic acidemia
 TREATMENT
• Peritoneal dialysis during the acute phase of
hyperammonemia
• Sodium benzoate (250mg/kg/d)
• Proteins 0.5g/kg/day
• Carnitine
• Methylcobalamin
• Ascorbic acid
• L Arginine
 DIAGNOSIS
• METHYL MALONIC ACIDEMIA
THANK YOU