1. MD, MNAMS, FIAP, FIAMS, MIUAT (Paris), FICMCH
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
Neurology Chapter of IAP

2. Neurology Chapter of IAP
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 infant’s 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.
Neurology Chapter of IAP

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9. 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.
Neurology Chapter of IAP

10. 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 (pompe’s), and arthrogryposis multiplex congenital.
Miscellaneous
Protein energy malnutrition, rickets, prader willi syndrome, malabsorption syndromes, Ehler-Danlos syndrome, cutis laxa, cretinism.
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15. Proximal vs. distal weakness
Differentiating Features of a Floppy Infant according to Site of Involvement
Site of involvement
Extent of weakness
Proximal vs. distal weakness
Face
Arms
Legs
Central - +
> or =
Anterior horn cell
++++
Peripheral nerve
+++
<
Neuromuscular junction =
Muscle
Variable ++
>
Neurology Chapter of IAP

16. Differentiating Features of a Floppy Infant according to Site of Involvement (Contd.)
Deep tendon reflexes
EMG
Muscle biopsy
Central
Normal or increased
Normal
Anterior horn cell
Absent
Fasciculation / fibrillation
Denervation pattern
Peripheral nerve
Decreased
Fibrillation
Neuromuscular junction
Decremental / incremental
Muscle
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
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36. 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 Moro’s reflex, and seizures during the neonatal period.
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37. 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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39. 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 Pompe’s 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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41. 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
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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42. 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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43. 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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