Title: Dr. Arun Agrawal
1Approach 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
2Floppy 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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4Posture
- 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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6Movements
- 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.
7Scarf 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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9Causes 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.
10Causes 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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15Differentiating 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
16Differentiating 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
17- 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
18- 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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36Common 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.
37Werdnig 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.
38Myasthenia 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.
39Congenital 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.
40Others
- 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.
41Profile 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
42Key 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
43Key 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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