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Floppy infant syndrome


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Floppy infant syndrome

  1. 1. Floppy infant syndrome Dr. Kalpana Malla MD Pediatrics Manipal Teaching HospitalDownload more documents and slide shows on The Medical Post [ ]
  2. 2. Floppy infant syndromeCauses1.CNS- Perinatal asphyxia, kernicterus, CP(Atonic) ICH, Down syndrome ,IEM2.Spinal cord lesions – Anterior horn cell Ds- Werdnig hoffman spinal muscular atrophy, poliomyelitis
  3. 3. Causes3.Myoneural junction – myasthenia gravis, infantile botulism4.Muscles – muscular dystrophies, cong myotonic dystrophies, cong myopathies, polymyositis
  4. 4. Causes5.Peripheral nerves – neuropathies6.Others – PEM, rickets, prader-willi syndrome, Ehler-danlos syndrome, cretinism
  5. 5. Differentiating features according to site of involvementSite of involvement extent of weakness Face arms legsCentral - + +Anterior horn cell ++++ ++++Peripheral nerve - +++ +++Neuromuscular junction +++ +++ +++Muscle Variable ++ +
  6. 6. Differentiating features according to site of involvementSite of involvement Proximal Vs distal weaknessCentral ≥Anterior horn cell ≥Peripheral nerve <Neuromuscular junction =Muscle >
  7. 7. Differentiating features according to site of involvementSite of involvement Deep tendon RCentral N or ↑Anterior horn cell absentPeripheral nerve ↓↓/absentNeuromuscular junction NormalMuscle Decreased but +
  8. 8. TopicsSpinal muscular atrophy –Werdnig hoffman disease• Myasthenia gravis
  9. 9. Spinal muscular atrophies• Degenerative diseases of motor neurons that begin in fetal life and progress in infancy and childhood• AR inheritance, few AD, rare X-linked• Incidence -1/25000• 2nd most common NMD after DMD
  10. 10. Classification• SMA type 1- Werdnig –hoffman disease (severe infantile)• SMA type 2 –late infantile slowly progressive• SMA type 3 – kulenberg –welander disease- chronic juvenile
  11. 11. Etiology• Pathologic continuation of a process of programmed cell death (Apoptosis) that is normal in embryonic life
  12. 12. Clinical features• Generalized Severe hypotonia,• Unable to feed• Involve tongue face and jaw muscles but extra ocular muscles and sphincters are spared• Head lag• Scarf sign-elbow crosses midline• Respiratory distress at birth, Frequent respiratory infections,
  13. 13. Clinical featuresUnusual postures – Flaccid posture, frog legged position• Movements –muscle appear flabby. Weakness, thin muscle mass, Decreased resistance to passive movement of limbs and range of movement of peripheral joints is increased• Relative immobility
  14. 14. Clinical featuresAbsent tendon reflexes• Delayed motor milestones• Intelligence –normal• Heart-not involved• 2/3rd die by 2 yrs and many in early infancy
  15. 15. Treatment• No medical treatment• Supportive –orthopedic care,physiotheray• Counseling
  16. 16. Myasthenia gravis• Immune mediated neuromuscular blockade.• Blocking Ab produced against acetyl choline receptors on postsynaptic membrane (anti Ach receptor Abs)-Decreased number of available Ach receptors
  17. 17. Nicotinic action of AchOn skeletal muscles – contracts Skeletal muscles - ↑ tone and power
  18. 18. MG• Have been reported in 1st yr of life• Rare before 10 yrs• F :M- 5:1• Ocular muscle first affected – ptosis B/L• Weak voice,swallowing & chewing difficult- aspiration of secretions & saliva• Lack of facial expression
  19. 19. • Inability to blow out cheeks• Worst cases – muscles of limbs & respiration are affected• DTR – usually present
  20. 20. Myasthenia gravis• Types – 1.Neonatal transient MG 2. Juvenile MG 3. Congenital MG
  21. 21. Neonatal transient MG• Infants of myasthenic mothers• Placental transfer of anti Ach Receptor -AbsC/F:Resp distress in first few hrs of life till 3 dayHypotonia, generalized weaknessWeak suck, weak cry,dysphagia,choking and cyanosisPtosisLess spontaneous movementsResolves in 4 weeks but may persist for months
  22. 22. • Temporary• Ptosis & paralysis of extraocular muscles are apparently uncommon in neonatal myasthenia
  23. 23. Juvenile myasthenia gravis • After 10 yrs • Ptosis-most common clinical finding- it increases progressively as patients are asked to sustain an upward gaze for 30-90 sec
  24. 24. P - increases progressively as patients areasked to sustain an upward gaze for 30-90 sec
  25. 25. Juvenile myasthenia gravis• Extra ocular muscle weakness• Diplopia• Pupillary response –normal• Dysphagia, dysarthria, facial weakness• Infancy-feeding difficulties, poor head control
  26. 26. Juvenile myasthenia gravis• Tendon reflexes may be diminished not lost• Rapid fatigue of muscles• Limb weakness-proximal or same on both limbs• Symptomatic late in the day• If untreated- progressive –resp muscle involvement –risk of aspiration• Prolonged course of remissions & relapses
  27. 27. Congenital MGHereditary not related to maternal MGNearly permanent disorder without spontaneous remissionDo not experience Myasthenia crisis
  28. 28. Associations• Occasionally secondary to hypothyroidism usually Hashimoto thyroiditis• Rheumatoid arthritis,SLE,Diabetes mellitus• Thymomas noted in adults is rare in children
  29. 29. Diagnosis• Edrophonium (Tenslon) test is diagnostic: 0.15-0.2mg/kg IV- marked improvement in ptosis, and other muscle weaknesspositive is symptoms improve• Edrophonium – anticholine esterase,action similar to neostigmine but transient in its effects
  30. 30. Diagnosis• Electromyography-more specifically diagnostic than muscle biopsy-decremental response to repetitive motor nerve stimuli• Antibody testing-circulating Ach R-antibody in serum – positive in 80% cases - most specific
  31. 31. Diagnosis• Thyroid profile – 10% has associated hyperthyroidism• CPK-Normal• Muscle biopsy – not required
  32. 32. Cholinergic crisis• Excess dose of anti-cholinesterase during treatment of MG produce symptoms due to ↑ conc of Ach
  33. 33. Nicotinic action of Ach1. On autonomic ganglion - CVS –sympathomimetic - ↑ BP -GIT- parasympathomimetic – diarrhoea - Urinary tract parasympathomimetic – voiding of urine2.On adrenal medulla - ↑ secretion of adrenaline 80% & nor – adrenaline20% - vasoconstriction - ↑ BP
  34. 34. Nicotinic action of Ach3. On skeletal muscles – contracts Sk muscles - ↑ tone and power4.On CNS - ↑ cholinergic activity -parkinsonism
  35. 35. Muscarinic action1.On smooth muscles-contraction except vascular & sphincter - miosis ,↓ intraocular press,- ↑lacrimation, salivary ,gastric ,intestinal secretion ,sweating- Bronchospasm- Diarrhoea voiding of urine- ↓BP, bradycardia
  36. 36. Treatment• Mild cases- no treatment• Cholinesterase-inhibiting drugs- - pyridostigmine or alternative neostigmine methyl sulfate - IM or Neostigmine bromide - oral every 4-6 hrs-4-6weeks
  37. 37. TreatmentImmunosuppressive drugs – to reduce Ab to acetylcholine receptors - Prednisolone best - 4 wks then A/D dose for 6-8 months -azathioprine,cyclosporine,cyclophophamide have been usedPlasmapheresis ,IVIG- for refractory cases,during myasthenia crisis
  38. 38. TreatmentThymectomy –older children• Avoid exacerbating drugs- Aminoglycosides, Erythromycin, penicillin, sulfonamides, fluoroquinolones beta-blockers procainamide, quinidine, anticonvulsants steroids, chloroquine, penicillamine
  39. 39. Thank youDownload more documents and slide shows on The Medical Post [ ]