Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Metabolic emergencies in the Newborn

1,952 views

Published on

Those who wish to download may please request to do so

Metabolic emergencies in the Newborn

  1. 1. Neonatal Emergencies: The Missed Ones Dr. Manoj Ghoda Consultant Gastroenterologistmkghoda@yahoo.com, +91 9824024165
  2. 2. Greetings from AhmedabadNext capital of India 2
  3. 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. 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. 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. 6. Why are Metabolic emergenciesMissed? Some routine illnesses themselves precipitate metabolic emergencies 6
  7. 7. Why are Metabolic emergenciesMissed? Tests are not easily available 7
  8. 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. 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. 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. 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. 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. 13. Believe meIt is not difficult…. 13
  14. 14. Case Study A Child with Recurrent Attacks of Asthma
  15. 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. 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. 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. 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. 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. 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. 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. 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. 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. 24. Back to our Case Analysis based on clinical features and basic investigations
  25. 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. 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. 27. Hyperammonemia Liver Disorders Urea Cycle Disorders Organic Acidemia Fatty Acid Oxidation Disorders Energy Metabolism Disorders 27
  28. 28. Could this Patient have Urea Cycle Disorder? 28
  29. 29. Urea Cycle Disorders 29
  30. 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. 31. Tandem Mass Spectrometry (MS/MS) High Citrulline High Arginosuccinic Acid Low Arginine 31
  32. 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. 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. 34. So... My humble request is... Think metabolic..... When all is not well 34
  35. 35. 35
  36. 36. Thank youDr Manoj K Ghoda MD, MRCPConsultant GastroenterologistSpecial interest in Neonatal and Pediatric Liver andMetabolic Diseasesmkghoda@yahoo.com+91 9824024165 36

×