Infant with Altered MS and “seizure”

1. Infant with Altered MS and “seizure” PEM Case Conference Nov 6, 2008

2. Our patient in review… • 7 mo girl • Normal in am…not so normal in pm • No hx of illness, ? Eye swelling • Found “twitching” and unresponsive • PMHx: Ø • Social hx: lives w/ M, D, and 2 “grandmas”

3. Our patient in review… • PE: T: 95.6, P: 160, R: 25, O2: 100% NRB • R lateral gaze, T/C seizure activity • HEENT: atraumatic, no eye swelling • Neck: supple • Chest / Heart / Abd: neg/normal • Ext / Skin: no swelling, no rash or bruising, no edema

4. Fever Simple febrile Complex febrile Trauma Impact Early, late posttraumatic Hypoxia Breath-holding spells Hypoxia Metabolic Inborn errors  Na, Mg, Glucose, Ca Toxins Drugs Drug withdrawal Biologic toxins Intracranial bleed Infection abscess, meningitis, encephalitis, shigella Other Tuberous sclerosis Neurofibromatosis Tumor Cardiac dysrhythmias Known causes of seizures

5. Our patient’s seizing b/c ? • Ingestion • Abuse • Abuse • Abuse

6. Management

7. We need a resident to help us out… One whose interests include museums, science centers, outdoor activities, food and culture. OR…

8. We need a resident to help us out… One whose interests include photography, kayaking, fine arts and cooking. OR…

9. We need a resident to help us out… One whose interests include debate and travel and fashion modeling OR…

10. We need a resident to help us out… One whose fun-loving, easy-going, happy, child-like without a care in the world….

11. Management • After IV, O2, monitor… • Take patient whose been waiting longer • ABCs • Labs - radiographs • Stop seizure • Offer to go to cafeteria and get lunch for Dr N

12. Status epilepticus (SE) • 60, 000 children year in US • 1/3 initial seizure new-onset epilepsy • 1/3 known epilepsy • 1/3 other etiologies • Mortality 1-3 % • SE > 1 hr (+/-) = permanent neurologic injury

13. Status epilepticus • Continuous or repetitive seizure activity of at least 30 min without regaining consciousness between convulsions. • Start AED therapy for any seizure longer than 10 min * • Includes most children presenting to ED with ongoing seizure activity • *Per Working Group on SE of EFA

14. SEPhysiology • Sympathetic • Tachycardia, hypertension, hyperglycemia • Failure of adequate ventilation • Hypoxia, hypercarbia, respiratory acidosis • Prolonged skeletal muscle activity • Lactic acidosis, rhabdomyolysis, K, Temp, Glucose

15. SEGoals • Maintain adequate vital signs to prevent hypoxia and systemic complications • Stop seizure activity quickly – minimizing side effects from treatment • Identify and treat underlying cause

16. SETreatment • ABCs • IV, Labs (glucose, chem 7, Ca, Mg) • Hypoglycemia • 2 cc/kg of D25%W • 5 cc/kg of D10%W • Hyponatremia • 4 cc/kg of 3% saline • Antipyretics as indicated

17. SEInitial drug of choice ? • Benzodiazepines • Lorazepam (Ativan) – preferred 0.05 –0.1 mg/kg IV or PR Onset: 2-3 min, Duration: 12 hrs • Diazepam (Valium) 0.1-0.3 mg/kg IV (0.5 mg/kg PR) Onset: 1-3 min, Duration: 5-15 min • Midazolam (Versed) 0.1 mg/kg IV/IM Onset: 1-5 min, Duration: 15-30 min *Respiratory depression, sedation

18. SEAED treatment – Persistent • Fosphenytoin (Cerebyx) or phenytoin (child) Load 15-20 mg/kg (PE) Onset: 10-30 min, Duration: 12-24 hrs • phenytoin- give slowly 2nd to hypotension & dysrhythmias. Don’t mix in dextrose solutions • Phenobarbital (neonate & addition to above) Load 15-20 mg/kg May repeat 5mg/kg Q 5-10min – max 40-60 mg/kg Onset: 10-20 min, Duration: 1-3 days • Sedation, hypotension, respiratory depression

19. Refractory SE • Medications • Pentobarbital • Midazolam • Propofol • Valproic acid (Depecon) • Lidocaine • Intubation and ventilation • Continuous EEG monitoring

20. Our patient… • IV Lorazepam • 0.1 mg / kg • Seizure activity stops • Patient not breathing well • Intubate ?

21. Labs and stuff… • CBC - pending • Chem 20 - pending • Urinalysis - pending • Urine tox - negative • CT scan - Brain

22. Now what… • LP • 2 wbc, 10 rbc, glucose 74, pr 38 • IVF • Warming measures • Rocephin • Phenobarbital • Osseous survey • Admitted PICU

23. Na 121 K 3.6 Cl 95 CO 2 19 Bun 9 Cr 0.4 Gl 140 Phos 5.1 Mg 2.5 Wbc 20.5 27 pmn, 67 lymp Hg 11.2 Plt 351 Urine >1030, ph 5.0 o/w neg LFTs normal More labs….finally

24. Hyponatremia • Hyperglycemia • Congestive heart failure • Nephrotic syndrome • Liver disease • Water intoxication • SIADH • AGE / sweat loss / adrenal insufficiency

25. Hyponatremia • Hyperglycemia • Congestive heart failure • Nephrotic syndrome • Liver disease • Water intoxication • Dx by history • Family is “on run” from domestic violence • Didn’t want to register with WIC • Pt has been getting a lot of water and diluted formula • SIADH • AGE / sweat loss / adrenal insufficiency

26. Water Intoxication Background • Infants at greatest risk • Occurs when daily water intake is excessive in relation to daily intake of sodium • Causes: Dilute formula, excess water intake, infant swim lessons (water swallowed in the pool), child abuse (forced water drinking), psychogenic water drinking

27. Clinical Features: Your First Clue • Poor feeding, vomiting, and lethargy • Feeding history, formula mixture • Hypothermia and edema may also be present. • Hyponatremic seizures • No signs of dehydration

28. Diagnostic Studies • Hyponatremia (Na <130) • Urine is appropriately dilute. • K, bicarbonate, BUN, creatinine aretypically normal. • Hyperglycemia not present

29. Management • Reinstitution of a “normal” diet or NS/LR IV fluid infusion • Proper formula preparation • Avoid excess water intake. • Infant swim lessons are not recommended. • 3% saline rarely needed (use with extreme caution in severe patients only)

30. Case Progression • Repeat Na 3 hrs later: 129 9 hrs later: 137 • By the time pt goes to PICU she is more responsive – to pain. • By morning awake, alert, crying, hungry

31. Some seizure videos

32. Low Sodium

33. Focal Seizure

34. Generalized T/C seizure

35. Post-ictal

36. Mimic - rigors

37. T/C seizure – no IV access

38. Infantile spasm - myoclonic

39. The Bottom Line • A thorough history can give clues to a diagnosis of metabolic disease. • Consider metabolic disease in the differential diagnosis of lethargy or sz. • Obtain a rapid bedside glucose and electrolytes for any patient with altered mental status or seizure.

40. Questions ?

41. Cortisol synthesis

42. Congenital Adrenal Hyperplasia • 90-95% of cases: 21-Hydroxylase deficiency • 2/3 are salt wasting vs 1/3 virilizing • 3% of cases are due to 11-beta-hydroxylase deficiency which presents with virilization and hypertension • Most types also have decreased aldosterone production=> hyperkalemia and urinary salt wasting

43. CAH21-hydroxylase deficiency (2) • Simple viralizing (1/3) • Increased virilizing adrogens • Ambiguous female genitalia • Non emergent care

44. CAH21-hydroxylase deficiency • Salt-wasting (2/3) • Deficiency in aldosterone synthesis (responsible for conserving Na and excreting K) • Most likely to need emergent intervention in 1st few weeks of life

45. CAH 21-hydroxylase deficiencySalt-wasting • Clinically • Vomiting, lethargy, dehydration • Cardiac: tachy, hypotension, poor perfusion • Arrhythmias due to hyperkalemia and acidosis • Lab findings • Hyponatremia, hyperkalemia (2nd to  aldosterone • Hypoglycemia (2nd to  cortisol)