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Neonatal Case Presentation-1

This case presentation describes a 2nd born male infant who presented at 26 days of life with vomiting, fever, lethargy, and refusal of feeds. Examination findings were consistent with encephalopathy. Initial investigations showed normoglycemia, neutropenia, metabolic acidosis, and hyperammonemia of 797 mcg/dl. The infant was treated with peritoneal dialysis, antibiotics, anticonvulsants, and a special diet. Further investigations including urine and plasma organic acid analysis confirmed a diagnosis of methyl malonic acidemia, an inborn error of metabolism. The infant improved with treatment and was discharged on medications and dietary management for this condition.

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Ananya Sampath
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273 views16 pages

Neonatal Case Presentation-1

This case presentation describes a 2nd born male infant who presented at 26 days of life with vomiting, fever, lethargy, and refusal of feeds. Examination findings were consistent with encephalopathy. Initial investigations showed normoglycemia, neutropenia, metabolic acidosis, and hyperammonemia of 797 mcg/dl. The infant was treated with peritoneal dialysis, antibiotics, anticonvulsants, and a special diet. Further investigations including urine and plasma organic acid analysis confirmed a diagnosis of methyl malonic acidemia, an inborn error of metabolism. The infant improved with treatment and was discharged on medications and dietary management for this condition.

Uploaded by

Ananya Sampath
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© © All Rights Reserved
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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

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