Dr Rajkumar

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Dr Rajkumar

  1. 1. Dr. Raj KumarConsultant Pediatrician Rajasthan Hospital
  2. 2.  3 year old boy Referred for recurrent loss of consciousness
  3. 3.  The child would be perfectly well before these episodes would start Following trivial illness, he would start with vomiting and soon loose consciousness. Would be admitted to hospital, where he would be given iv fluids and recover again in no time!
  4. 4.  Non-consanguineous family Normal birth details and early development Family history of death in a male sibling at 2 days of age- unexplained In between episodes normal examination
  5. 5.  Notes from previous admissions suggested that he was noted to have hypoglycemia during these episodes. Neurological examination was unremarkable except hypotonia in one note; no neck rigidity and no focal weakness was noted
  6. 6. On admission: Unarousable, Febrile ; T =101F No bruises, petechae, No jaundice No edema feet No lymphnodes were palpable
  7. 7.  Gr III coma Moved limbs on deep painful stimuli Hypotonia + Pupils equal and reacting to light No neck rigidity Planters: extensor
  8. 8.  No distention No visible veins No umbilical hernia Liver enlargement of 3 cms, soft with sharp edges Spleen not palpable No ascites Other systems were found to be normal
  9. 9.  Hypoglycemia ? Hyperammonemia ? Convulsions? Stroke ? Encephalitis/ Meningitis ?
  10. 10.  On admission low blood sugar of 32, Ammonia of 500, Lactate 2.3, normal pH and base excess of -6.5 CBC: Normochromic normocytic anemia, WBC 12,000 with 60% neutrophils, peripheral smear unremarkable Urea 28, Creatinine 0.8, Na 139, K 4.0 Liver function tests- ALT 123, Bil 1.2, PT 16/14 LDH 996, Alb 4.2
  11. 11.  Urinary screen for metabolic disorders (urine MRST ) – normal Blood MRST- normal TLC for amino acids- normal TLC sugar- normal Tests for Galactosemia- negative
  12. 12.  Biotinidase- negative G6PD- normal levels Urinary orotic acid- normal Plasma amino acids HPLC- normal HPLC nucleic acid- normal Plasma amino acids LC/MS- normal pattern GC-MS Organic acids- Elevated 2-oxoglutaric acid
  13. 13.  Recurrent,sudden loss of consciousness and hypoglycemia and severe hyperammonemia suggested neurometabolic syndrome more than anything else.
  14. 14. If you have a patient with : Neonatal progressive or recurrent encephalopathy Epilepsy that is refractory to treatment, myoclonic epilepsy Extrapyramidal movement disorders Ptosis, miosis and oculogyric crisis Disturbances of autonomic functions
  15. 15.  Ammonia AA including homocysteine OA in urine Purines and pyrimidines in urine and bed side sulphite test Prolactin in serum Whole blood serotonine Metabolic tests in CSF MRS of brain NMR (Nuclear Magnetic Resonance) of CSF
  16. 16.  Liver diseases Urea cycle disorders Fatty acid oxidation disorders Organic acidemia
  17. 17.  Urine had no ketones while the child was hypoglycemic !! Thus this child had hypo-ketotic hypoglycemia This raised the possibility of FAOD; hyperammonemia is a known finding in FAOD.
  18. 18.  High free fatty acids, and low beta-hydroxy butyrate High total carnitine CK and Uric acid Grossly elevated C0/C16-18 ratio suggestive of CPT-1 deficiency by TMS High Dicarboxylic aciduria suggesting omega oxidation Enzyme studies in fibroblast and lymphocytes Molecular diagnosis
  19. 19.  Fatty Acid Oxidation Disorder, CPT-I deficiency
  20. 20.  For acute episodes he was treated with oral sodium benzoate, IV Dextrose, IV carnitine and lactulose. Within 3 days ammonia decreased to 100 and subsequently 41- level of consciousness improved
  21. 21. Disorders of fatty oxidation display two general types of presentation. First, hypoketotic hypoglycemia, and clinical picture of Reye syndrome. In fact, it is now clear that most patients who appear to have Reye syndrome have an inborn error of metabolism, the most common, being MCAD deficiency and OTC deficiency.
  22. 22.  Second, reflects the chronic disruption of muscle function with symptoms relevant to myopathy or cardiomyopathy, including weakness, hypotonia, congestive heart failure, or arrhythmia. Both types of presentations may be seen in the same family or even in the same individual. Another presentation is with the sudden infant death syndrome (SIDS)
  23. 23.  Episodic illness usually occurs first between 6 months and 2 years, usually following fasting for 12 hours or more as a consequence of intercurrent infectious disease. The episode may be ushered in with vomiting or lethargy, or it may begin with a seizure. It is progressive rapidly to coma
  24. 24.  Hepatomegaly is usually present at the time of the acute illness. Liver biopsy at the time reveals abundant deposits of lipid in microvesicular pattern. This and hyperammonemia have often led to a diagnosis of Reye syndrome Cerebral edema and herniation have been reported in an acute lethal episode
  25. 25.  In long-term management use supplemental cornstarch, at least for evening and night feedings. The initial dosage we have employed is 0.5 g/kg (1 Tbsp 8 g), usually working up to 1.0 g/kg. Some reduction in the intake of fat appears prudent, but this does not need to be excessive. Supplementation with carnitine is currently advised.

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