Dr Swapna - Neocon2019 · Dr Swapna .L MD(Ped) ,DM (Nenatology), Assistant Professor of Neonatology...
Transcript of Dr Swapna - Neocon2019 · Dr Swapna .L MD(Ped) ,DM (Nenatology), Assistant Professor of Neonatology...
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PHOTO
Dr Swapna .LMD(Ped) ,DM (Nenatology),
Assistant Professor of NeonatologyNiloufer Hospital, Hyderabad
AndConsultant Neonatologist
Soumya Childrens Hospital
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Refractory Neonatal Seizurescase based discussion
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Epidemiology
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Causes of neonatal seizures
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Causes of recurrent neonatal seizures
• HIE
• Cerebral dysgenesis
• Cerebral malformation
• Intra cranial bleed
• Neonatal stroke
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Metabolic
• Pyridoxine dependency
• Pyridoxal phosphate dependency
• Folinic acid dependent seizures
• Biotinidase deficiency
• Molybdenum cofactor deficiency
• Sulfite oxidase deficiency
• GLUT1 deficiency
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Major effects of recurrent neonatal seizures
• Increased susceptibility to later epilepsy
• Impaired cognitive function
• Developmental delay.
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Case 1
• Preterm ,34weeks , 1.78 kg, male baby
• primi mother by LSCS
• Baby cried after tactile stimulation
• spontaneous preterm labour shifted to in view of respiratory distress
ANTENATAL HISTORY:
• 29 year old mother.
• Had regular antenatal check ups
• Antenatal TIFFA scans and dopplers are normal.
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Examination
Wt: 1.78 kg
HC: 28 cm (<3rd percentile )
LENGTH – 42 cm
Axial hypotonia present.
Power is 4/5 in all the limbs
External genitalia: hypospadias present
At admission the baby has RD with SAS score of 4/10.
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In nicu
• Baby started on CPAP. PEEP(6cm)
• Xray showed 7 space lung expansion
• Baby was weaned off from CPAP after 24 hours of life .
• At 23 hrs of life baby had 2 episodes of seizures loaded with Inj. Phenobabitone.
• GRBS normal, serum calcium – normal
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Further course…
• At 42 hours of life the baby had 2 more episodes of seizures requiring phenobarbitonehalf loading and levetiracetam loading dose.
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Further course…
• After 18 hours being seizure free, the baby had 2 more episodes of seizures requiring half loading levetiracetam, pyridoxine,biotin, folinic acid.
• S. electrolytes are within normal limits.
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Investigations(in selected cases)
Neonatal -onset epilepsies (Familial & Genetic epilepsies)
– Clinical/ Whole exome sequencing
– Whole genome sequencing
– Targeted epileptic encephalopathy gene panels
– CSF Neurotransmitters
– Muscle biopsy (Respiratory enzyme assay)
– High resolution MRI Brain
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Investigations
• S. electrolytes are within normal limits
• NSG- normal ventricle size with RI of 0.59.
• Septic work up negative
• CSF analysis-normal
• 2d echo- normal.
• TORCH profile - NEGATIVE
• MRI Brain was done
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Normal / abnormal
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MRI brain
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MRI brain
• Decreased sulcation of brain with thick cortex and smooth surface with shallow sylvianfissures .
• Moderate dilatation of temporal horns and body of lateral ventricles
• Partial agenesis of corpus callosum noted with absent splenium.
• Features suggestive of lissencephaly.
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EEG
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• Diagnosis :
• X linked lissencephaly:
• Lissencephaly
• Agensis of corpus callosum
• Hypospadias
• Intractable seizures
• Acquired microcephaly
• Male phenotype
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• We have send whole genome clinical exomsequencing for the baby to rule out genetic cause for lissencephaly.
• Counselled the parents about the baby’s condition
• The prognosis in such patients is poor. They show marked developmental delay. Most patients die before the age of 18 months.
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Take home message
• Consider cerebral malformations
polymicrogyria, neuronal heterotopias, lissencephaly, holoprosencephaly, and hydranencephaly
intractable seizures
Dysmorphic facies
Microcephaly
No history of birth asphyxia / perinatal events
After ruling out metabolic causes
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Case 2
• 2 days old female baby , term , birth weight – 2.9 kg
• Second in birth order , consanguinous parents • No history of birth asphyxia• Decreased feeding from first day of life • History of seizures , not controlled after
phenobarbitone, phenytoin and levitiracetam, pyridoxine, biotin,folinic acid
• On examination : had hypotonia and encephalopathy
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• GRBS : normal,serum calcium – normal
• Serum electrolytes – normal
• Septic work up: negative
• Neurosonogram normal
• MRI brain - normal
• CSF analysis : normal
• TMS : elevated glycine levels
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• Baby expired due to refractory seizures
• We got the results after the baby expired
• We have send new born screening filter paper card for mutational analysis
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Case 3
• Term baby , 39 weeks , 3.1 kg, born to primimother
• Non consanguinous parents
• NVD
• Cried after one cycle of bag and mask ventilation
• Presented with seizures at 7 hours of life
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• Myoclonic in type , multiple
• Treated with phenobarbitone, phenytoin, levipil, pyridoxine
• Investigations:
• GRBS : normal
• Serum calcium- normal
• Serum electrolytes – normal
• Septic work up negative
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• Usg cranium – RI – normal
• Seizures controlled
• MRI brain – normal
• Baby discharged with gardinal.
• Baby readmitted with seizures on day 10 with refractory myoclonic seizures,
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• Restarted on pyridoxine, seizures controlled
• Currently baby is on follow up 8 months on pyridoxine, and is seizure free.
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Pyridoxine dependent seizures
• Diagnostic criteria:
• Seizures resistant to traditional antiepileptic therapy and cessation of clinical seizures with administration of parenteral or oral pyridoxine
• Complete seizure control on pyridoxine
• Recurrence of seizures upon pyridoxine withdrawl
• No clinical evidence of pyridoxine deficiency
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• Acute: 100 to 200 mg of pyridoxine iv
• Maintanence : 30 mg/kg/day
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Fourth case
• Term ( 38 weeks ), male, 3.44 kg
• primi mother by LSCS in view of non progression of labour was shifted to sowmya childrenshospital in view of respiratory distress
ANTENATAL HISTORY
• 25 year old mother.
• Had regular antenatal check ups
• All the trimesters uneventful
• Antenatal TIFFA scans and dopplers are normal.
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Natal history
• Prolonged labour of 30 hours duration.2nd
stage being 3 hours.
• Vertex presentation
• Baby cried after tactile stimulation. APGAR 5& 9.
• H/o MSL+
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Further course
• At admission the baby has RD with Downesscore of 5/10.
• Activity at admission good, tone normal, moros complete, Baby was started on CPAP. In v/o higher fio2 and PEEP requirements the baby is connected to mechanical ventilator on assist mode.
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Further course
• At 7 hours of life, the baby had cyclical movements of all the limbs
• GRBS normal, i.v phenobarbitone loading dose was given.
• At 12 hours of admission the baby had 2 more episodes of seizures requiring phenobarbitonehalf loading and levetiracetam loading dose
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Further course
• At 17 hours of life, baby developed two more episodes , treated with half loading levipil, pyridoxine, folinic acid, biotin.
• At 25 hours, baby developed two more epidoes, started on midazolam infusion
• Midazolam infusion tapered over next 48 hours and stopped
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Investigation
• CBP: hb-17.7gm%,wbc:19900(46%,45%,01%,8%),plt1.73laks
• ABG: 7.252/48.9/68/-6/21.6/2.1• RBS:76mg/dl• Electrolytes: Na+ 135
k+ 3.6cl- 96
• S.calcium:8.2• S.magnesium 1.55
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Day 2:
CRP 44mg/lit
B/C/S- no growth
Day 4:
• CSF analysis-normal
• PT-13.4 Sec,aPTT-54 sec, INR 1.2
• 2d echo-normal
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MRI brain
• focal DWI hyperintensity in left temporal,parieto-occipital and high parietal cortical, subcortical regions with restriction of ADC-INFARCTS
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• MRI brain:Focal DWI hyperintensity in left temporal,parieto-occipital and high parietal cortical, subcortical regions with restriction of ADC-INFARCTS
Cephalhematoma+
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Take home message
• Consider metabolic causes
• Cerebral malformations
• Neonatal epilepsy syndrome