Dr. Arun Agrawal

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Approach to Floppy Infant

• Dr. Arun Agrawal
• MD, MNAMS, FIAP, FIAMS, MIUAT (Paris), FICMCH
• Consultant Pediatrician Neonatologist,
  Ghaziabad
• National Chairperson Neurology Chapter of IAP
• Honorary Professor of Pediatrics ICMCH
• National Convener Community Pediatrics,
  Chapter of IAP
• National Vice President IAP 2004

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Floppy Infant

• Floppy infant refers to those children presenting
  with generalized hypotonia, most often arising
  out of an insult incurred during fetal or
  neonatal period.

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Posture

• The floppy infant assumes a frog legged position.
  On ventral suspension, the baby can not maintain
  limb posture against gravity and assumes the
  position of a rag doll.

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Movements

• The muscles appear flabby. There is diminished
  resistance to passive movement of the limbs and
  the range of movement of the peripheral joints is
  increased.

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Scarf Sign

• Put the child in a supine position and hold one
  of the infants hands. Try to put it around the
  neck as far as possible around the opposite
  shoulder. Observe how far the elbow goes across
  the body. In a floppy infant, the elbow easily
  crosses the midline.
• Pull to sit
• When pulled up from the supine to the sitting
  position, the head of the baby lags.

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Causes of Floppy Infant Syndrome

• Central nervous system
• Perinatal asphyxia, neonatal, encephalopathy,
  kernicterus, cerebral palsy (atonic type),
  intracranial hemorrhage, chromosomal anomalies
  including down syndrome and inborn errors of
  metabolism e.g., aminocidurias,
  mucopolysaccharidosis and cerebral lipidosis.
• Spinal cord lesions
• Anterior horn cell disease werdnig Hoffman
  spinal muscular atrophy, poliomyelitis.
• Peripheral nervous
• Acute polyneuropathy, familial dysautonomia,
  congenital sensory neuropathy.
• Myoneural junction
• Neonatal myasthenia gravis, infantile botulism,
  following antibiotic therapy.

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Causes of Floppy Infant Syndrome (Contd.)

• Muscles
• Muscular dystrophies, congenital myotonic
  dystrophies, congenital myopathies (including
  central core disease and nemalin myopathy),
  polymyositis, glycogen storage disease (pompes),
  and arthrogryposis multiplex congenital.
• Miscellaneous
• Protein energy malnutrition, rickets, prader
  willi syndrome, malabsorption syndromes,
  Ehler-Danlos syndrome, cutis laxa, cretinism.

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Differentiating Features of a Floppy Infant
according to Site of Involvement
Site of involvement Extent of weakness Extent of weakness Extent of weakness Proximal vs. distal weakness
Site of involvement Face Arms Legs Proximal vs. distal weakness
Central - gt or
Anterior horn cell gt or
Peripheral nerve - lt
Neuromuscular junction
Muscle Variable gt
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Differentiating Features of a Floppy Infant
according to Site of Involvement (Contd.)
Site of involvement Deep tendon reflexes EMG Muscle biopsy
Central Normal or increased Normal Normal
Anterior horn cell Absent Fasciculation / fibrillation Denervation pattern
Peripheral nerve Decreased Fibrillation Denervation pattern
Neuromuscular junction Normal Decremental / incremental Normal
Muscle Decreased Short duration small amplitude potential Characteristic
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• Signs Perform complete physical examination
• Infant with decreased muscle tone
• Exam distinguishes site of disorder
• Upper motor neuron lesion
• Lower motor neuron lesion
• Radiology
• Head CT
• Head MRI
• Diagnostic Studies
• Electromyogram (EMG)
• Nerve Conduction Studies
• Labs Initial
• Serum electrolytes
• Serum Calcium
• Serum Glucose

Look for Sepsis
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• Creatine Phosphokinase (CPK)
• Toxic scan
• Blood Culture
• Lumbar Puncture with Cerebrospinal Fluid
  Examination
• Thyroid Function Tests
• Labs Test as indicated
• Toxicology screen
• Serum Ammonia and Venous pH
• Serum amino acids
• Urine amino acids and organic acid
• Karyotype
• TORCH Virus Screening

Looks Like Sepsis without Sepsis
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Common causes of floppy infant

• Cerebral Palsy
• Many hypotonic children due to causes in central
  nervous system are mentally retarded. In atonic
  or hypotonic cerebral palsy, reflexes are brisk
  in spite of generalized flaccidity. Floppy infant
  due to cerebral causes is associated with
  lethargy, poor feeding, and lack of alertness,
  poor Moros reflex, and seizures during the
  neonatal period.

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Werdnig Hoffman disease

• It is characterized by marked hypotonia, sluggish
  fetal movement, and fasciculation of tongue. The
  child is alert. Feeding behaviour and cry are
  poor. Deep tendon reflexes are absent. Muscle
  biopsy shows neurogenic type of atrophy or that
  the muscle spindles are atrophied in groups.
  Disease is inherited as an autosomal may be
  available. Death occurs by 2-4 years of age.

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Myasthenia gravis

• Mmyasthenia gravis may occur in about 12 percent
  of the babies born to mothers with the disease.
  It is characterized by marked hypotonia, pooling
  of oral secretions, poor feeding, feeble cry and
  generalized muscle weakness appearing within 2-3
  days after the birth. Baby is alert. Facial
  weakness manifests by mark-like facies, open
  mouth and staring look. External opthalmoplegia
  and ptosis are rare. Deep tendon reflexes are
  normal. The prognosis is substantiated by
  improvement in the muscle functions following
  intramuscular injection of edrophonium chloride 1
  mg or neostigmine methyl sulfate 0.1 mg. the
  condition lasts for 3 to 4 weeks. The child is
  treated with neostigmine methyl sulphate 0.1 to
  0.5 mg IM 10 minutes before each feel for 1 or 2
  days followed by neostigmine bromide, 1 to 4 mg
  orally half an hour before each feed.

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Congenital myopathies

• These are rare inherited disorders resulting in a
  benign congenital hypotonia, with generally good
  outlook for normal life span. Nemaline myopathy
  is the most common variant. Other disorders of
  this group include the central core disease,
  myotubular myopathy and congenital fiber type
  disproportion.

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Others

• In polyneuritis there is symmetrical weakness of
  the limbs with sensory changes. The diagnosis of
  Pompes disease is suspected when the child has
  macroglossia, cardiomegaly and generalized
  hypotonia. Babies with prader-willi syndrome are
  mentally retarded and obese deep tendon reflexes
  are diminished. Diabetes mellitus occurs later in
  life. Testes may be undescended. Ehlers-danlos
  syndrome is characterized by hyperelasticity of
  the skin, hyperflexibility of joints and extreme,
  fragility of skin. Wound healing is delayed and
  there are frelly movable subcutaneous nodules. In
  cutis laxa, the child has loose skin hanging in
  baggy folds.

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Profile of Floppy Patients (n 70) Prof. V.
Kalra et.al. 2001
Disorder No.
Spinal muscular atrophy Type I 13 18.6
Spinal muscular atrophy Type II 17 24.3
Spinal muscular atrophy Type III 7 10.0
Diaphragmatic SMA 1 1.4
Congenital myopathy 7 10.0
Congenital muscular dystrophy 5 7.1
Mitochondrial myopathy 4 5.7
Hereditary sensory motor neuropathy 3 4.3
Hereditary sensory autonomic neuropathy type IV 2 2.9
Unclassified 11 15.7
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Key Messages of this Study

• Spinal muscular atrophy emerged as the commonest
  cause of floppy children followed by congenital
  muscle disease.
• 11 of the cases still remained unclassified
  despite sophisticated investigative techniques.
• EMG was a good screening modality for floppy
  children.
• A low gene deletion rate (50) was observed in
  our phenotype

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Key Messages in Approach to a Floppy Child

• First ABC of resuscitation
• Try to find out cause but again simple clinical
  examination is the first thing
• Any sedative drug given during labour
• Investigations
• Only those investigations which are necessary
• Sepsis
• Sepsis without sepsis
• Another sophisticated investigations
• Improve the quality of life probably quantity can
  not be improve in most of the cases

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