Transcript Approach to Floppy Infant

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
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.
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Causes of Floppy Infant Syndrome
1.
2.
3.
4.
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.)
5.
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.
6.
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
Extent of weakness
Face
Arms
Legs
Proximal vs.
distal weakness
Central
-
+
+
> or =
Anterior horn cell
+
++++
++++
> or =
Peripheral nerve
-
+++
+++
<
Neuromuscular
junction
+++
+++
+++
=
Variable
++
+
>
Site of involvement
Muscle
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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
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
Decreased
Short duration small
amplitude potential
Characteristic
Central
Muscle
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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
Look
• Diagnostic Studies
• Electromyogram (EMG)
for
• Nerve Conduction Studies
Sepsis
• Labs: Initial
• Serum electrolytes
• Serum Calcium
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• Serum Glucose
•
•
•
•
•
•
•
•
•
•
Creatine Phosphokinase (CPK)
Toxic scan
Blood Culture
Lumbar Puncture with Cerebrospinal Fluid
Examination
Thyroid Function Tests
Looks
Labs: Test as indicated
Like
Toxicology screen
Sepsis
Serum Ammonia and Venous pH
without
– Serum amino acids
Sepsis
– Urine amino acids and organic acid
Karyotype
TORCH Virus Screening
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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 Moro’s 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 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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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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Neurology Chapter of IAP