• Save
Metabolic emergencies in the Newborn
Upcoming SlideShare
Loading in...5
×

Like this? Share it with your network

Share

Metabolic emergencies in the Newborn

  • 1,036 views
Uploaded on

Those who wish to download may please request to do so

Those who wish to download may please request to do so

  • Full Name Full Name Comment goes here.
    Are you sure you want to
    Your message goes here
No Downloads

Views

Total Views
1,036
On Slideshare
1,036
From Embeds
0
Number of Embeds
0

Actions

Shares
Downloads
0
Comments
2
Likes
1

Embeds 0

No embeds

Report content

Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

Cancel
    No notes for slide

Transcript

  • 1. Neonatal Emergencies: The Missed Ones Dr. Manoj Ghoda Consultant Gastroenterologistmkghoda@yahoo.com, +91 9824024165
  • 2. Greetings from AhmedabadNext capital of India 2
  • 3. NBS and beyond…. ICMR puts estimates of prevalence at 1:1400 to 1:2100 Certain inbreeding communities, small communities and small isolates may have disproportionately high incidence and prevalence of IEM 3
  • 4. Metabolic Emergencies Why do we miss metabolic emergencies ? What historical and clinical features should alert us about the underlying metabolic cause? What tests are useful once a metabolic disease is suspected? What are the common metabolic emergencies in routine practice? 4
  • 5. Why are Metabolic emergenciesMissed? Symptoms are non-specific and could be easily confused with routine pediatric problems – Vomiting for gastritis/gastroenteritis. – Altered sensorium to meningitis/viral encephalitis – Altered respiration for respiratory infections or asthma. – Jaundice for hepatitis. 5
  • 6. Why are Metabolic emergenciesMissed? Some routine illnesses themselves precipitate metabolic emergencies 6
  • 7. Why are Metabolic emergenciesMissed? Tests are not easily available 7
  • 8. Why are Metabolic emergenciesMissed? We don’t think about it! Or we think what we want to think !! Only srmat poelpe can raed tihs. I cdnuolt blveiee taht I cluod aulaclty uesdnatnrd waht I was rdanieg. The phaonmneal pweor of the hmuan mnid, aoccdrnig to a rscheearch at Cmabrigde Uinervtisy, it deosnt mttaer in waht oredr the ltteers in a wrod are, the olny iprmoatnt tihng is taht the frist and lsat ltteer be in the rghit pclae. The rset can be a taotl mses and you can sitll raed it wouthit a porbelm. Tihs is bcuseae the……. 8
  • 9. Why are Metabolic emergenciesMissed? Only srmat poelpe can raed tihs. I cdnuolt blveiee taht I cluod aulaclty uesdnatnrd waht I was rdanieg. The phaonmneal pweor of the hmuan mnid, aoccdrnig to a rscheearch at Cmabrigde Uinervtisy, it deosnt mttaer in waht oredr the ltteers in a wrod are, the olny iprmoatnt tihng is taht the frist and lsat ltteer be in the rghit pclae. The rset can be a taotl mses and you can sitll raed it wouthit a porbelm. Tihs is bcuseae the……. 9
  • 10. When Should the Alarm Bell Ring?In your practice, if you see a child with … Acute illness following a period of normalcy Intermittent illness for no obvious reason Recurrent unexplained vomiting Failure to thrive Aversion to certain food or the illness starting with particular food 10
  • 11. When to Suspect an IEM?Or a child with … Rapid deterioration for no obvious reasons Rapidly progressive encephalopathy of obscure origin Lethargy and coma Hypotonia, seizures, especially if hard to control Intractable hiccups 11
  • 12. When to Suspect an IEM?Or if the child has ... Apnea or respiratory distress Sepsis, particularly with E. Coli Unusual odor Jaundice Dysmorphic features Organomegaly 12
  • 13. Believe meIt is not difficult…. 13
  • 14. Case Study A Child with Recurrent Attacks of Asthma
  • 15. History A 16 month old boy was referred for “recurrent attacks of asthma” He was born out of a 2nd degree consanguineous marriage and was the first child of the parents FTND and birth weight was 2.7 Kg Pregnancy was uneventful There was no notable family history or past medical history
  • 16. Observations Soon after birth the child had recurrent episodes of “asthma” – Each time he would be given a cocktail of nebulizers and antibiotics with oxygen and the rest and would recover enough to be discharged, only to be admitted again On an average, he had one admission every fortnight He had vomiting and failure to thrive Xrays and blood tests were unremarkable, he had no evidence of pneumonia on xrays He was referred with a suspicion of metabolic cause underlying his illness 16
  • 17. Observations (Contd.) The child appeared small for his age and his weight was in the 5th centile for his age. He had tachypnea; Chest was clear on clinical examination CNS revealed Hypotonia but otherwise unremarkable Normal CXR Normal CBC, LFT, PT, Blood Sugar and Creatinine Blood Urea 12 mg. High Ammonia 188 mmmol (++) Normal Lactate Metabolic screening by urine was normal Blood Gases on room air showed – pH 7.48 – pO2 112, pCO2 28, HCO3 17
  • 18. Recapping …We have a hyperventilating patient – He is born out of a consanguineous marriage – He has unexplained vomiting, failure to thrive and hypotonia – He has normal chest on clinical examination and normal chest x-ray – Normal sugar, normal anion gap – Low urea and high ammonia with normal liver functions, normal PT, normal albumin; and normal lactate – Respiratory alkalosis
  • 19. True or False? If any problem is recurrent; it may be due to underlying metabolic disease Respiratory distress could be a major manifestation of underlying metabolic disease Unexplained vomiting and failure to thrive are two of the common manifestations of metabolic illness. Consanguinity is more likely to produce metabolic disease Asthma or any other respiratory illness usual to childhood would have caused respiratory acidosis and not respiratory alkalosis
  • 20. Some common metabolic disordersleading to emergency in Newborn Galactosemia, Tyrosinemia Organic Acidopathies Urea Cycle Disorders Maple Syrup Urine Disease Glycogen Storage Disorders Nonketotic Hyperglycinemia Cystic Fibrosis 20
  • 21. Initial Screening Tests CBC – Neutropenia is frequent in some Organic Acidemias – Megaloblastic Anemia in MMA – Adler–Reilly bodies in storage disorders. Glycogen granule in GSD Electrolytes, ABG to evaluate for acidosis and anion gap Glucose, LFT and RFT Ammonia, Lactate, Pyruvate Galactosemia Screening tests Uric Acid
  • 22. Initial Screening Tests (Contd.) Urinalysis – Urinary pH – Reducing substances – Ketones  The presence of ketones is unusual even in sick neonates and suggests an Organic Acidemia. High false positive rate – Absent ketones in hypoglycemia may suggest Fatty Acid Disorders DNPH test for MSUD
  • 23. Other Screening Tests Urine organic acids by GC/MS while the patient is ill Plasma amino acids MS/MS, while the patient is ill Total Carnitine, Free Carnitine and Acylcarnitine profile
  • 24. Back to our Case Analysis based on clinical features and basic investigations
  • 25. Respiratory Alkalosis Psychogenic Hyperventilation Hypoxia Hyperammonemia Excessive Mechanical Ventilation CNS Causes – Stroke, Subarachnoid Hemorrhage, Meningitis Drugs – Doxapram, Aspirin, Caffeine and Coffee Abuse Fever, which stimulates the respiratory centre in the brainstem Pregnancy
  • 26. Respiratory Alkalosis (Contd.) Hyperventilation secondary to cerebral edema is a common early finding in hyperammonemic attacks that results in respiratory alkalosis. Hypoventilation and respiratory arrest follow as pressure increases on the brain stem
  • 27. Hyperammonemia Liver Disorders Urea Cycle Disorders Organic Acidemia Fatty Acid Oxidation Disorders Energy Metabolism Disorders 27
  • 28. Could this Patient have Urea Cycle Disorder? 28
  • 29. Urea Cycle Disorders 29
  • 30. Lab Diagnosis Plasma Ammonia Plasma Amino Acids – Low/Absent Citrulline  Proximal Defects – OTC/CPS1/NAGS – High Citrulline  Distal Defects – Argininosuccinate - ASL – High Arginine – ARG – High Ornithine – ORNT1 – High GLN, ASN, ALA  All UCDs – Ammonia Sump Urinary Orotate – High in all UCDs except CPS1 and NAGS therefore used to differentiate these from OTC 30
  • 31. Tandem Mass Spectrometry (MS/MS) High Citrulline High Arginosuccinic Acid Low Arginine 31
  • 32. Severe Illness Usually normal the first 24 hours Symptoms of Hyperammonemia within 1-3 days include: – Feeding intolerance – Vomiting – Lethargy – Irritability – Respiratory Distress (Hyperventilation) – Seizures – Coma 32
  • 33. Mild Disease Mild/Partial Defects/Female Carriers of OTC – hyperammonaemia triggered by illness or stress First episode can occur all the way into adulthood LOA, cyclical vomiting, lethargy, psychosis Encephalopathic (slow-wave) EEG pattern Brain atrophy on MRI after repeated episodes 33
  • 34. So... My humble request is... Think metabolic..... When all is not well 34
  • 35. 35
  • 36. Thank youDr Manoj K Ghoda MD, MRCPConsultant GastroenterologistSpecial interest in Neonatal and Pediatric Liver andMetabolic Diseasesmkghoda@yahoo.com+91 9824024165 36