More Related Content
Similar to FLOPPY INFANTneuropedicon 2017.pptx
Similar to FLOPPY INFANTneuropedicon 2017.pptx (20)
Recently uploaded
Recently uploaded (20)
FLOPPY INFANTneuropedicon 2017.pptx
- 1. FLOPPY INFANT D KALPANA Sr.Consultant Pediatric Neurologist KIMS Hospital, Thiruvananthapuram.
- 2. 10/15/2017 2 Floppy - soft and easily bent; not able to maintain a firm shape or position -Like a rag doll
- 3. Definition • Decreased resistance to passive stretch= hypotonia in a newborn or infant • Baby appears floppy – slips when held • Increased range of joint mobility • Abnormal postures • May or may not be associated with weakness.
- 4. 10/15/2017 4 Leyenaar et alPaediatr Child Health Vol 10 No 7 September 2005
- 6. FLOPPY BABY • CENTRAL • PERIPHERAL • COMBINED
- 7. Central hypotonia • No significant weakness, but co ordinated fine movts are defective • Significant perinatal events • Global developmental delay • Cortical thumb • Extensor hypertonia • Scissoring on vertical suspension • Cortical thumb • DTR well elicitable DTR BRISK Baby can move limbs off the bed
- 8. CENTRAL HYPOTONIA • HIE • Structural malfrmations • SEPSIS, MENINGITIS, SHOCK • METABOLIC – hypoglycemia, hypocalcemia, hypokalemia, hypothyroidism • CHROMOSOMAL – Down’s,Turner’s, Prader Willi syndrome A
- 9. Peripheral hypotonia • Presence of significant weakness • Often predominantly motor delay • Muscle wasting • Hypotonia in all positions – rag doll like • DTR decreased/absent DTR SLUGGISH/ABSENT
- 10. LOWER MOTOR NEURONE CAUSES • Anterior horn cell • Spinal muscular atrophies • Poliomyelitis • Peripheral nerve • Peripheral neuropathies – HMSN, CHP • Neuromuscular junction • neonatal/ congenital myasthenia • Muscle – • congenital myopathies, myotonic dystrophy,CMD
- 11. Combined central and peripheral • Mitochondrial cytopathy • Muscle eye brain disease, Walker Warburg disease • Infantile neuroaxonal dystrophy • Lysosomal storage disease • HIE in children with SMA/myopathy
- 12. Clinical evaluation • Prenatal natal perinatal history • Polyhydramnios, breech presentation, decreased fetal movements – LMN • Birh trauma, anoxia, neonatal seizures/apnoea • Low APGAR – in LMN also becos of hypotonia, decreased reflexes, poor resp effort • Need for ventilation,feeding and swallowing difficulties • Consanguinity –AR-SMA, myopathy, CMD • Family history –sibling death, exam of parents • Myotonia in mother for children with cong myotonic dystrophy • Fatiguable ptosis, ophthalmoplegia in mother – transient neonatal myasthenia
- 15. Gen exam • High arched palate • Large tongue,Doll like facies – Pompe • Cataract – peroxisomal disorders.Lowe syndrome • Arthrogryposis- severe weakness in early fetal devp- immobilizes joints • Hypopigmented hair – Menke’s • Hypermobility of joints
- 16. Hyperlaxity of ligaments • Ehler Danlos Syndrome • Benign hypermobility of joints • Ullrich muscular dystrophy • Menke’s disease
- 18. Myopathic facies CONGENITAL MUSCULAR DYSTROPHY CONGENITAL MYOTONIC DYSTROPHY CONGENITAL MYOPATHIES
- 19. General and systemic examination Dysmorphic features – Trisomy 21. Prader Willi syndrome Hepatosplenomegaly in storage disorders Renal cysts in peroxisomal disorders Cardiomegaly in Pompe’s disease
- 21. Clinical characteristics • Frog leg posture • Profound weakness and hypotonia –LMN • Hypotonia with minimal weakness-UMN • Weak low pitched cry • In peripheral/neuromuscular problems the infants will be quite alert • Central –obtunded/decreased level of consciousness
- 22. Neurological examination • Sensorium • Cranial nerves • 3,4,6 • Facial • 9 & 10 –pooling of secretions • 12 –fasciculation of tongue • Ptosis &ophthalmoplegia cong myasthenia, centronuclear myopathy, mitochondrial myopathy • Tongue fasciculations • AHC- SMA
- 23. • Motor system • Watch for spont movt of limbs. • Wasting,Clawing • 1800 flip test • extensor hypertonia • Scissoring • Power – • look for neck, resp muscle weakness • Proximal/distal difference • DTR
- 24. Bodensteiner,Semin Pediatr Neurol 15:10-20 © 2008
- 26. Central vs peripheral hypotonia central peripheral Developmental delay Global Predominantly motor Seizures Common Rare Dysmorphic features May be present absent Spontaneous antigravity movements Normal Reduced Ventral suspension Lifts head up(extensor hypertonia) Rag doll appearance Vertical suspension Scissoring floppy Deep tendon reflexes Normal or brisk Decreased Fasciculations Absent May be present Resp muscle weakness Absent May be present
- 27. Investigations • CPK • EMG/NCV • MUSCLE BIOPSY • GENETIC TESTING • CT SCAN/MRI • CHROMOSOMAL STUDY • S. ELECTROLYTES • ABG • RFT, LFT • S.lactate/pyruvate
- 28. CPK • Increased when there is ongoing destruction of muscle fibres • Very high in muscular dystrophies> 4-5 times normal • Mild elevation in cong myopathies • Spuriously raised if blood is squeezed • Mild elevation in sick newborns
- 29. NCV In peripheral nerve disorders To distinguish demyelination from axonopathy Demyelination – increased DL, normal amplitude and decreased CV Axonopathy – decreased CMAP amplitude, normal conduction velocity 10/15/2017 29
- 30. 10/15/2017 30
- 32. Muscle biopsy • Should be done only if there are facilities for frozen section, enzyme histochemistry and immunohistochemistry • Otherwise send to a centre with facilities, or the specimen should reach there in 3-6 hours. • Choose a moderately affected muscle • Tissue should not be crushed • Don’t use muscles subjected to EMG studies. • Genetic testing has reduced the need for muscle biopsy 10/15/2017 32
- 33. 10/15/2017 33
- 35. Genetic testing • SMA – SMN gene • Cong myotonic dystrophy –CTG repeats • Pompe’s disease – enzyme analysis and genetic studies • Karyotype – trisomy • FISH, methylation studies in PWS • Next generation sequencing
- 36. 10/15/2017 36
- 37. 10/15/2017 37
- 38. MRI brain • Most useful in central hypotonia • HIE • Structural malformations • Inborn errors of metabolism • Combined central and peripheral • Mitochondrial cytopathy • Cong muscular dystrophy
- 39. Merosin negative congenital muscular dystrophy
- 42. Rakesh Jain, Sandeep Jayawant, PAEDIATRICS AND CHILD HEALTH 21:11
- 43. Specific treatment • Correction of hypothyroidism • Mgt of rickets, renal tubular acidosis • Enzyme replacement therapy for Pompe’s • Neostigmine/pyridostigmine,DAP,salbutamol for some cases of CMS • Dietary mgt for IEM • Vit B12 for methyl malonic academia • Copper histidinate for Menke’s
- 44. 10/15/2017 44
- 45. Take home messages • Central hypotonia is more common than peripheral hpotonia(60- 80%) • History, targeted examination, and judicious investigations help in clinching the diagnosis, • SMA can be easily diagnosed by detecting SMN gene deletion in 95% of cases and prenatal diagnosis is easy • Electrophysiologic investigations have only limited usefulness in infancy.