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Floppy babyFloppy baby
Dr.tosif ahmadDr.tosif ahmad
TMO-paedsTMO-paeds
Case presentationCase presentation
Adnan s/o Akbar zaman, 5Adnan s/o Akbar zaman, 5
months old, known case ofmonths old, k...
Case presentationCase presentation
 According to the mother of theAccording to the mother of the
baby, he developed high ...
Case presentationCase presentation
The baby cant support the headThe baby cant support the head
and they are getting treat...
Case presentationCase presentation
 There is history of repeatedThere is history of repeated
hospitalization for LRTI.hos...
Case presentationCase presentation
 Regular antenatal checkup, withRegular antenatal checkup, with
no history of medicati...
Case presentationCase presentation
 The baby was delivered in homeThe baby was delivered in home
by a LHV with immediate ...
Case presentationCase presentation
 The baby is breast fed.The baby is breast fed.
Case presentationCase presentation
 On examination.On examination.
1.1. Ill lookingIll looking
2.2. PalePale
3.3. Tachypn...
Case presentationCase presentation
 Crepitations in both sides ofCrepitations in both sides of
chest.chest.
 Allert, con...
InvestigationsInvestigations
 Nerve conduction studiesNerve conduction studies
 X-ray chest.X-ray chest.
DiagnosisDiagnosis
 SMA/LRTISMA/LRTI
HypotoniaHypotonia
 Hypotonia in infancy may beHypotonia in infancy may be
due to a paralytic or a nondue to a paralytic ...
HypotoniaHypotonia
 Non paralytic condions causeNon paralytic condions cause
hypotonia (floppiness) withouthypotonia (flo...
CausesCauses
 Paralytic causes;Paralytic causes;
1.1. Spinal cord disorders such asSpinal cord disorders such as
trauma, ...
CausesCauses
4- Peripheral neuropathy.4- Peripheral neuropathy.
5- Congenital myopathy ; it may5- Congenital myopathy ; it...
CausesCauses
 Non paralytic causes;Non paralytic causes;
1- Disorders affecting the CNS1- Disorders affecting the CNS
(bi...
CausesCauses
5- Metabolic & endocrine5- Metabolic & endocrine
disorders (hypercalcemia ,disorders (hypercalcemia ,
hypothy...
Clinical featuresClinical features
 Sever hypotoniaSever hypotonia
 On ventral suspension, the fourOn ventral suspension...
InvestigationsInvestigations
 Thyroid function testsThyroid function tests
 Serum calciumSerum calcium
 KaryotypingKary...
TreatmentTreatment
 Treatment is dirrected to theTreatment is dirrected to the
cause of hypotoniacause of hypotonia
Spinal muscular atrophySpinal muscular atrophy
 SMAs are degenerativeSMAs are degenerative
diseases of motor neurons that...
Spinal muscular atrophySpinal muscular atrophy
 SMA is classified in to theSMA is classified in to the
following types;fo...
Spinal muscular atrophySpinal muscular atrophy
4 A sever fetal form that is4 A sever fetal form that is
usually fatal in t...
Spinal muscular atrophySpinal muscular atrophy
 The cause of SMA is aThe cause of SMA is a
pathological continuation of a...
Type 1Type 1
 It is severe infantile form.It is severe infantile form.
 Rapidly progressive with theRapidly progressive ...
Type 1Type 1
 Facial and bulbar muscles areFacial and bulbar muscles are
unaffected, so the infant has anunaffected, so t...
Type 2Type 2
 More chronic condition.More chronic condition.
 Presents from 6 months to 18Presents from 6 months to 18
m...
Type 3Type 3
 Presents above 18 months.Presents above 18 months.
 Children develop normally butChildren develop normally...
TreatmentTreatment
 No medical treatment isNo medical treatment is
available to delay theavailable to delay the
progressi...
Thank youThank you
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Floppy baby

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Floppy baby

  1. 1. Floppy babyFloppy baby Dr.tosif ahmadDr.tosif ahmad TMO-paedsTMO-paeds
  2. 2. Case presentationCase presentation Adnan s/o Akbar zaman, 5Adnan s/o Akbar zaman, 5 months old, known case ofmonths old, known case of SMA, presented with complaintsSMA, presented with complaints of ;of ; 1- cough 3 days.1- cough 3 days. 2- fever 3 days.2- fever 3 days.
  3. 3. Case presentationCase presentation  According to the mother of theAccording to the mother of the baby, he developed high gradebaby, he developed high grade fever and cough 3 days back.fever and cough 3 days back. Both were more sever at night.Both were more sever at night. The cough is productive and theThe cough is productive and the fever is continous. The baby isfever is continous. The baby is unable to move lower limbs fromunable to move lower limbs from birth. There is also reduction inbirth. There is also reduction in the movements of uper limbs.the movements of uper limbs.
  4. 4. Case presentationCase presentation The baby cant support the headThe baby cant support the head and they are getting treatmentand they are getting treatment for this condition of the babyfor this condition of the baby from CMH Islamabad where hefrom CMH Islamabad where he has been diagnosed as a casehas been diagnosed as a case of SMA.of SMA.
  5. 5. Case presentationCase presentation  There is history of repeatedThere is history of repeated hospitalization for LRTI.hospitalization for LRTI.  1 brother and 2 sisters of the1 brother and 2 sisters of the baby, all of them are normal. Nobaby, all of them are normal. No family history of congenitalfamily history of congenital abnormalities or infectiousabnormalities or infectious diseases.diseases.  Father of the baby is driver.Father of the baby is driver.
  6. 6. Case presentationCase presentation  Regular antenatal checkup, withRegular antenatal checkup, with no history of medication duringno history of medication during pregnancy by the mother.pregnancy by the mother. According to the mother, theAccording to the mother, the movement of this baby was verymovement of this baby was very less when she compared it withless when she compared it with the previous pregnancies.the previous pregnancies.
  7. 7. Case presentationCase presentation  The baby was delivered in homeThe baby was delivered in home by a LHV with immediate cryby a LHV with immediate cry after birth.after birth.  Vaccination done according toVaccination done according to EPI shedule.EPI shedule.  Developmental delay, the babyDevelopmental delay, the baby is still not able to support hisis still not able to support his head, social smile at 1.5head, social smile at 1.5 months.months.
  8. 8. Case presentationCase presentation  The baby is breast fed.The baby is breast fed.
  9. 9. Case presentationCase presentation  On examination.On examination. 1.1. Ill lookingIll looking 2.2. PalePale 3.3. TachypnoiecTachypnoiec 4.4. Lying in supine position with ivLying in supine position with iv line in the head.line in the head.
  10. 10. Case presentationCase presentation  Crepitations in both sides ofCrepitations in both sides of chest.chest.  Allert, conscious, no spontanousAllert, conscious, no spontanous movements of the limbs, Headmovements of the limbs, Head lag, on ventral suspension alllag, on ventral suspension all the limbs hang down. Reflexesthe limbs hang down. Reflexes absent.absent.  Rest of the examination normalRest of the examination normal
  11. 11. InvestigationsInvestigations  Nerve conduction studiesNerve conduction studies  X-ray chest.X-ray chest.
  12. 12. DiagnosisDiagnosis  SMA/LRTISMA/LRTI
  13. 13. HypotoniaHypotonia  Hypotonia in infancy may beHypotonia in infancy may be due to a paralytic or a nondue to a paralytic or a non paralytic disorder.paralytic disorder.  Paralytic conditions causeParalytic conditions cause hypotonia with weakness andhypotonia with weakness and may affect the anterior hornmay affect the anterior horn cells,nerve fibers neurocells,nerve fibers neuro muscular junctions or muscles.muscular junctions or muscles.
  14. 14. HypotoniaHypotonia  Non paralytic condions causeNon paralytic condions cause hypotonia (floppiness) withouthypotonia (floppiness) without significant weakness.significant weakness.  The commenest cause of floppyThe commenest cause of floppy baby is perinatal asphyxia.baby is perinatal asphyxia.  Most common paralytic cause ofMost common paralytic cause of floppy infant is SMA.floppy infant is SMA.
  15. 15. CausesCauses  Paralytic causes;Paralytic causes; 1.1. Spinal cord disorders such asSpinal cord disorders such as trauma, tumors etctrauma, tumors etc 2.2. Anterior horn cell disease suchAnterior horn cell disease such as SMA & poliomyelitisas SMA & poliomyelitis 3.3. Neuromuscular disorders suchNeuromuscular disorders such as neonatal or congenitalas neonatal or congenital myasthenia gravis.myasthenia gravis.
  16. 16. CausesCauses 4- Peripheral neuropathy.4- Peripheral neuropathy. 5- Congenital myopathy ; it may5- Congenital myopathy ; it may be structural (muscularbe structural (muscular dystrophy) or metabolicdystrophy) or metabolic (glycogen & lipid storage(glycogen & lipid storage disorders)disorders)
  17. 17. CausesCauses  Non paralytic causes;Non paralytic causes; 1- Disorders affecting the CNS1- Disorders affecting the CNS (birth asphyxia, hypotonic CP,(birth asphyxia, hypotonic CP, Downs syndrome)Downs syndrome) 2- Connective tissue disorders2- Connective tissue disorders (Ehlers Danlos syndrome)(Ehlers Danlos syndrome) 3- Prader-willi syndrome.3- Prader-willi syndrome. 4- Benign congenital hypotonia4- Benign congenital hypotonia
  18. 18. CausesCauses 5- Metabolic & endocrine5- Metabolic & endocrine disorders (hypercalcemia ,disorders (hypercalcemia , hypothyroidism)hypothyroidism)
  19. 19. Clinical featuresClinical features  Sever hypotoniaSever hypotonia  On ventral suspension, the fourOn ventral suspension, the four limbs hang down and the infantlimbs hang down and the infant is unable to hold head up.is unable to hold head up.  Head lagHead lag  Frog like positionFrog like position
  20. 20. InvestigationsInvestigations  Thyroid function testsThyroid function tests  Serum calciumSerum calcium  KaryotypingKaryotyping  Investigations for inborn errorsInvestigations for inborn errors of metabolism.of metabolism.  CT or MRICT or MRI  NCSNCS  Muscle biopsy.Muscle biopsy.
  21. 21. TreatmentTreatment  Treatment is dirrected to theTreatment is dirrected to the cause of hypotoniacause of hypotonia
  22. 22. Spinal muscular atrophySpinal muscular atrophy  SMAs are degenerativeSMAs are degenerative diseases of motor neurons thatdiseases of motor neurons that begin in fetal life and continue tobegin in fetal life and continue to be progressive in infancy andbe progressive in infancy and childhood.childhood.
  23. 23. Spinal muscular atrophySpinal muscular atrophy  SMA is classified in to theSMA is classified in to the following types;following types; 1.1. SMA type 1 or werdnigSMA type 1 or werdnig hoffmann disease.hoffmann disease. 2.2. SMA type 2 a late infantile andSMA type 2 a late infantile and more slowly progressive form.more slowly progressive form. 3.3. SMA type 3 or kugelbergSMA type 3 or kugelberg welander disease.welander disease.
  24. 24. Spinal muscular atrophySpinal muscular atrophy 4 A sever fetal form that is4 A sever fetal form that is usually fatal in the perinatalusually fatal in the perinatal period has been described asperiod has been described as SMA type 0SMA type 0
  25. 25. Spinal muscular atrophySpinal muscular atrophy  The cause of SMA is aThe cause of SMA is a pathological continuation of apathological continuation of a process of programmed cellprocess of programmed cell death or apoptosis.death or apoptosis.  Defect in SMN gene causesDefect in SMN gene causes SMA.SMA.
  26. 26. Type 1Type 1  It is severe infantile form.It is severe infantile form.  Rapidly progressive with theRapidly progressive with the majority dying of respiratorymajority dying of respiratory failure with in 18 months.failure with in 18 months.  Presents in 1Presents in 1stst few weeks.few weeks.  Fasciculations are seenFasciculations are seen particularly in tongue.particularly in tongue.  Decreased fetal movements.Decreased fetal movements.
  27. 27. Type 1Type 1  Facial and bulbar muscles areFacial and bulbar muscles are unaffected, so the infant has anunaffected, so the infant has an alert look and can swallowalert look and can swallow normally.normally.
  28. 28. Type 2Type 2  More chronic condition.More chronic condition.  Presents from 6 months to 18Presents from 6 months to 18 months.months.  Causes severe muscle wasting ,Causes severe muscle wasting , contractures and scoliosis.contractures and scoliosis.  Majority die by the age of 10Majority die by the age of 10 years,years,
  29. 29. Type 3Type 3  Presents above 18 months.Presents above 18 months.  Children develop normally butChildren develop normally but then they develop limb girdlethen they develop limb girdle weakness and gradual loss ofweakness and gradual loss of ability to walk.ability to walk.  Progression is episodic andProgression is episodic and usually there is survival intousually there is survival into adult life.adult life.
  30. 30. TreatmentTreatment  No medical treatment isNo medical treatment is available to delay theavailable to delay the progression of the disease.progression of the disease.  Orthopedic care.Orthopedic care.  Mild physiotherapy.Mild physiotherapy.
  31. 31. Thank youThank you

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