its bout fatty chain oxidation defect

1. MORTALITY DISCUSSION
DATE : 14/08/2020

2. History
• 05 months old male infant s/o serving soldier
• 1st born of non-consanguineous marriage
• Resident of Maharashtra
• Admitted on 12th August 2020 at 0049 hours
to CH (SC)

3. Chief Complaints
• 1. Fever X 5 days
• 2. Abnormal body movements x 4 days back
• 3. Poor feeding x 4 days.

4. H/O PRESENT ILLNES
• Developed fever in the evening on 7th august, 2020
• Mild to moderate grade (not documented)
• Intermittent
• More in the evening
• Not associated with chills or excessive sweating

5. H/O PRESENT ILLNESS …CONTD
• Abnormal body movements noted in the
morning 8 hours after onset of fever
• Up rolling of eyes
• Tonic movements of limb followed by multifocal clonic
movement
• Brief, lasting 2-3 minutes
• Self aborted
• Followed by drowsiness

6. H/O PRESENT ILLNESS …CONTD
• Was immediately taken to private hospital (Ananya hospital
,Pareli Baijanath)on 08/08/2020 and was loaded with inj.
Phenobarbitone ( 20mg/kg) along with inj. Taxim, inj
amikacin, inj dexa and inj.pcm)
• Baseline investigations were done
• Fever persisted.
• Abdominal distention and pedal edema was noticed on day 3
of admission
• Infant was referred to higher center after 2 days.
• Was admitted in another private hospital (Sparsh hospital)
• Neuroimaging (NCCT) and USG abdomen and pelvis was
done

7. OTHER INVESTIGATIONS
FROM PVT. HOSPITAL
NCCT HEAD
(09/08/2020)
Normal Study
USG
ABDOMEN
(11/08/2020 )
Moderate hepatomegaly (rt lobe-10.7 cm ) with
coarse eco texture, diffuse liver parenchymal
disease
Moderately thickened GB wall (secondary to
liver disease)
Mild to moderate ascites

8. INVESTIGATIONS FORM PVT.
HOSPITAL
Date Hematology Biochemistry Others
08/08/20 Hb : 8.9
PCV : 23
TLC : 7900
P55L35M04E01
Plt : 3.52 lakh
Na / K : 133/4.63
S.Calcium: 7.55
mg/dl
RBS: 20 mg/dl
CRP : 12 mg/l
Dengue serology
: negative
10/08/20 Hb : 10.9
PCV : 31.8
TLC : 13100
P52L35M06E01
Plt : 2.74 lakh
Na / K : 128/6.6
S.Calcium: 5.21
mg/dl

10. H/O PRESENT ILLNESS
…CONTD
• On day of admission c/o lip smacking
along with staring look since morning
(12/08/2020)
• intermittent
• Multiple episodes since morning
• In between the episodes infant was looking
at the surroundings with interest

11. H/O PRESENT ILLNESS …CONTD
• H/o poor feeding x 4 days
• Infant was not able to suck properly on
direct breast feeding.

12. H/O PRESENT ILLNESS …CONTD
• Abdominal distention x 2 days
• abdominal distension was noted by parents on 3rd
day of illness

13. NEGATIVE HISTORY
• No h/o bleeding manifestations
• No h/o altered bowel habits
• No h/o vomiting, inconsolable cry, irritability , head
banging
• No h/o jaundice
• No h/o urinary symptoms-
• No h/o difficulty in breathing, respiratory distress
• No h/o rashes over body

14. H/O PRESENT ILLNESS
• Spontaneous conception
• I trimester
• No h/o teratogenic exposure
• Maternal infections/ fever with rash/ UTI
• Drugs
• Radiation exposure
• II trimester
• Quickening felt at 5th month
• Antenatal ultrasounds showed normal singleton pregnancy
• 2 doses of TT was taken
• No h/o medical illness complicating the pregnancy DM/HTN
• III trimester
• No h/o decreased / increased fetal movements
• No h/o increased liquor
• No h/o leaking PV/bleeding
ANTENATAL/POSTNATAL HISTORY

15. H/O PRESENT ILLNESS
• Born at term by normal vaginal delivery
• Birth wt: 3.0 Kg
• No h/o prolonged labour or assisted delivery
• Cried immediately at birth
• no abnormal movements noticed
• No h/s/o neonatal encephalopathy
• Breastfeeding established on Day 1 of life
• No h/o poor suck
• No h/o NICU admission
• No h/o any neonatal jaundice.
PERI NATAL HISTORY

16. DEVELOPMENT HISTORY
Gross Motor Milestones
Partial neck holding at 4 months
Bi-dextrous grasp at 5 months
Cooing at 3 months
Social smile at 2 months
Recognizes mother since 3 months of age

17. IMMUNIZATION HISTORY
• Immunization completed till 14 weeks
• BCG scar was present

18. NUTRITIONAL HISTORY
• Child was on exclusive breast feeding

19. FAMILY HISTORY
• No h/o other family members having similar
illness/epilepsy/early death/chronic neurological disorder

20. GENERAL EXAMINATION
• Examination of infant was limited owing to drowsy state
• IV Cannula / Central line (on left jugular vein ) in place
• Anthropometry:
• Length - 65 cm ( -1 to 0 Z)
• Weight - 6.2 kg ( -1 to -0 Z)
• OFC – 43 cm ( - 1 to – 2 Z)
• Vitals:
• Temp – 98.6˚ F
• HR – 160 /min
• RR- 34 /min , no retractions , no use of accessory muscles of respiration
• CFT < 3 secs
• Spo2- 94% in room air increased to 99% with 2 lts/min
• Pallor +, b/l pedal edema , with round faces .
• AF open , not bulging .
• No clubbing, cyanosis, icterus, lymphadenopathy
• No dysmorphic features
• No neurocutaneous markers

21. SYSTEMIC EXAMINATION: PER ABDOMEN
• Soft , distended, with abdominal girth of 40.5 cm
• Transversely stretched umbilicus
• No scars, no visible veins
• Liver palpable 7 cm below the RCM along with
palpable left lobe of the liver too, with total span of
12 cm
• Spleen palpable 2 cm below LCM
• Shifting dullness present
• Bowel sounds audible
• No scrotal swelling

22. SYSTEMIC EXAMINATION: CNS
• Infant was examined while lying supine in bed
• was drowsy with intermittent eye opening
• Localizing to painful stimulus
• Cry on painful stimulus
• Pupil : bilateral equal in size and reactive to light.
• CN : no facial asymmetry, no drooling of saliva
• Motor : bulk : b/l symmetrically increased
• tone : b/l normal in all 4 limbs
• reflexes : could not be elicited easily
• planters : b/l up going .

23. SYSTEMIC EXAMINATION (CONTD)
• CVS- S1 S2 normal, no murmur appreciated
• RS- air entry bilateral equal , bilaterally conducted sounds
heard

24. DIFFERENTIALS OF
HEPATOSPLENOMEGALY WITH
SEIZURES
INFECTIVE CAUSES • Cerebral malaria
• Septicemia with meningitis
• Brucellosis
• Leptospirosis
• Typhus
• Parvovirus B 19
• Neonatal hepatitis with intrauterine
infection with cns manifestation
STORAGE DISORDER Infantile Gaucher disease
Niemann-pick disease type a
METABOLIC DISEASE Glycogen storage disroder
Galactosemia
Hereditary fructose intolerance
Farber disease
MITOCHONDRIAL CYTOPATHIES Alpers syndrome
MALIGNANCY Leukemia with CNS secondaries

25. INVESTIGATIONS
Date Hematology Biochemistry Others
12/08/20
(morning
)
Hb : 10.4
PCV : 28.0
TLC : 7600
P27L14M50
Plt : 2.66 lakh
Urea/Cr : 11/0.2
Na / K : 124/4.1
S.Calcium: 6.8mg/dl
(corrected calcium:
8.64)
S.Phosphate : 2.5
T/D Bil : 1.7/0.6
T.P/A/G: 3.4/1.7/1.7
Serum Albumin : 1.7
CRP : 0.4 mg/l
VBG :
PH : 7.232
PC02 :
39.5
HCO3 :
16.8
BE: -9.3
Lactate: 2.9
RBS
41 mg/dl (12 am)
286 mg/dl ( 2 am)
184 mg/dl ( 4 am)
114 mg /dl ( 8 am )
116 mg/dl ( 12 pm)
241 mg/dl ( 4 pm)
160 mg/dl ( 8 pm)

26. INVESTIGATIONS
Date URINE Biochemistry
12/08/20
(morning)
Urine r/e ,m/e: NAD
Urinary ketones: Negative
Urine for reducing
substances : present.
PT/PTTK/INR : Chylous sample
Serum ammonia: Chylous sample.
Lipid profile : chylous sample

27. POSSIBLE CAUSES OF
LIPAEMIC BLOOD SAMPLE

28. POSSIBLE CAUSES OF LIPAEMIC
BLOOD SAMPLE
Primary causes Secondary causes
• Lipoprotein lipase deficiency
• Apolipoprotein C2 deficiency
• Apolipoprotein A2 deficiency
• GP1HBP1 deficiency
• Familial combined hyperlipidaemia
• Familial hypertriglyceridaemia
• Glycogen storage disorder
• Diabetes mellitus
• Metabolic syndrome
• Nephrotic syndrome
• SLE
• Paraproteinaemia
• CKD
• Hypothyroidism
• Hypopituitarism
• Drugs eg: steroids, acitretin, TPN
International journal of clinical chemistry(2013)
pubmed.gov

29. CSF SAMPLE( POST MORTEM)
BIOCHEMISTRY CYTOLOGY C/S
Protein : 139
Glucose : 67
(serum glucose :
126)
Globulin: increased
App: mixed with blood
WBC : 60
RBC : 40,000
awaited

30. • LIVER BIOPSY
• TMS/GCMS
• URINE CMV PCV
• GENETICS REPORT
INVESTIGATIONS AWAITED

31. MANAGEMENT
• NPO
• Oxygen support
• Iv NS bolus
• INF N/2 in 5% Dextrose with 1:100 kcl ( full maintenance )
• Inj levetiracetam – 20 mg /kg stat (loading dose) followed 12
hrs apart with 10 mg/kg dose in twice a day
• Inj phenobarbitone : 5 mg/kg / day in two divided doses
• Inj Meropenem: 40 mg/kg /dose – three times a day
• Inj Vancomycin : 15 mg/kg/dose – four times a day
• Inj Dopamine : 5 mcg/kg /min ( in 50 ml of iv fluids)
• Inf. Albumin : 1gm/kg over 4 hours.

32. ACUTE EVENT IN PICU
• Infant was shifted to PICU from isolation ward 9 in the
evening around 9 pm after COVID report came
negative
• Was started on adrenaline infusion at 0.1 mcg /kg
/min
• CSF and ascitic fluid tap was planned
VITALS T PR RR SPO2 CFT PP Peripheries
97˚ F 146/min
(feeble)
32/min 97% with
oxygen
support via
mask (2
L/min
<
secs
Palpabl
eFeebl
e
cold

33. ACUTE EVENT IN PICU
CONT…
• While doing lumbar puncture suddenly infant started bleeding from
mouth and nose
• Saturation started falling
• Procedure was aborted immediately and suction from mouth and nose
was done and was taken on bag and mask and was intubated
• Bradycardia unresponsive to chest compression ,3 doses of adrenaline
was given and one bolus was given
• Yet child didn’t come up
• Was declared dead at 0015 hrs (13/08/2020)

34. CAUSE OF DEATH
• Acute pulmonary hemorrhage
• Primary liver dysfunction with
coagulopathy
• Seizure

35. THANK YOU