Approach to Floppy Infant

Lt Col(Dr) Bindu T Nair

Professor (Pediatrics)
 CASE SCENARIO
• A 3 year old girl is brought with complaints of
not been able to stand or walk. She had
achieved neck holding at 8 months, was sitting
with support at 18 months and without support
at 2 years of age. The parents also feel her to
be limp and loose as compared to her sisters.
Her birth and perinatal period was uneventful.
• What other information do you want from the
history.
Diagnostic challenge
• Floppy Infant - Rare disorder in
infancy

• Exhaustive differential diagnosis

• Sign of both benign and

serious conditions

• Overwhelming advances in
diagnosis and management
 Floppy infant
• Multiple disorders with various degrees of
hypotonia which can be axial, appendicular or
both.
• Two broad groups:

1. Central hypotonia (Supraspinal conditions) -

brain, brainstem and cervical spinal junction
2. Motor unit hypotonia/peripheral (Segmental
conditions) anterior horn cell, peripheral
nerve, neuromuscular junction and muscle
 Relevant terminologies and definitions

  Floppy infant syndrome:

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

Hypotonia :
decrease resistance to passive range of motion
 
Weakness :
Reduce power of active motion
The maintenance of normal tone requires
intact central and peripheral nervous
system .

Hence hypotonia is a common symptom of

neurological dysfunction and occurs in
diseases of the
brain, spinal cord, nerves, and muscles.
 Non-Neuromuscular Causes of Hypotonia

• Disorders of the central nervous system

• Connective tissue disorders
• Genetic disorders
• Metabolic; nutritional; endocrine
 Non-Neuromuscular Causes of Hypotonia

• Disorders of the central nervous system

– Birth trauma, intracranial hemorrhage, neonatal
hypoxic ischemic encephalopathy
– Hypotonic cerebral palsy
– Non-specific mental deficiency
– Metabolic disorders; lipidoses; leukodystrophies,
mucopolysaccharidoses, aminoacidurias,
mitochondrial disorders
 Non-Neuromuscular Causes of Hypotonia
• Connective tissue disorders
– Congenital laxity of ligaments
– Ehlers-Danlos syndromes
– Cutis laxa
– Marfan syndrome
– Osteogenesis imperfecta
 Non-Neuromuscular Causes of Hypotonia

• Genetic disorders
– Down syndrome
– Prader-Willi syndrome
– Angelman syndrome
– William syndrome
– Miller-Dieker syndrome
– Smith Lemli Opitz syndrome
– Other structural chromosomal abnormalities
Non-Neuromuscular Causes of Hypotonia

• Metabolic; nutritional; endocrine

– Organic acidemias
– Hypercalcemia
– Hypothyroidism
– Rickets
– Renal tubular acidosis
Common Causes of Hypotonia
 Anterior horn cell disorders

• Infantile spinal muscular atrophy

• Traumatic myelopathy ( esp following breech
delivery )
• Infantile neuronal degeneration

 
 Congenital neuropathies
• Congenital hypomyelinating neuropathy
• Giant axonal neuropathy
• Charcot Marie tooth disease
• Dejerine Sottas disease
 Neuromuscular junction disorders
• Myasthenia gravis ( Transient acquired
neonatal myasthenia ,congenital myasthenia )
• Infantile botulism
• Magnesium toxicity
• Aminoglycoside toxicity
 Myopathies
• Congenital myopathy
• Nemaline myopathy
• Central core disease
• Myotubular myopathy
• Congenital fiber type disproportion myopathy
• Multicore myopathy
 CASE SCENARIO
• The parents say she is otherwise normal. She can speak
sentences, is toilet trained and can point to 3 colors.
There are no other associated problems. You examine
the child. She looks bright and alert. There is no facial
weakness or squint. The muscle bulk is symmetrically
reduced bilaterally. The tone is reduced in all 4 limbs.
The antigravity movements are reduced. The power is
reduced more in the proximal muscle groups as
compared to distal muscle groups. The deep tendons
reflexes are absent. She responds to pain and touch.
• What are the other features that you should look for in
the examination?
 History
&
Clinical evaluation
 Antenatal clues?
• Decreased fetal movements
• Polyhydramnios
• Breech presentation
• Bad obstetric history/neonatal deaths
 Obstetric history
• Maternal exposures to toxins or infections
suggest a central cause
• Information on fetal movement in utero, fetal
presentation, and the amount of amniotic fluid.
• Low Apgar scores may suggest floppiness from
birth
• Breech delivery or cervical
position – cervical spinal cord
trauma, prolonged labour
 Neonatal period
• Respiratory distress Inability to
wean off ventilation
• Weak cry, Feeding problems
(slow feeding, recurrent
choking episodes)
• Umbilical Hernias
• Dislocation of hip/ limb
deformities/ Talipes
• Arthrogryposis, contractures
• Delayed motor development
milestones
 Course of illness
• A term infant who is born healthy but develops
floppiness after 12 to 24 hours – suspect inborn error of
metabolism

• Infants suffering central injury usually develop increased

tone and deep tendon reflexes later

• Motor delay with normal social and language

development decreases the likelihood of brain pathology.

• Loss of milestones increases the index of suspicion for

neurodegenerative disorders
 HOPI - Summary

• History regarding onset, duration and progress of the

weakness
• Detailed history of the child’s acquisition of
developmental milestones
• Functional difficulties

• Systemic symptoms - leads to regression of

milestones
 Family history
• Developmental delay (a chromosomal
abnormality)
• Delayed motor milestones (a congenital
myopathy) and
• Premature death (metabolic or muscle
disease).
• Family tree and a pedigree chart to assist with
future genetic counseling.
 Feeding History
• Prader-Willi syndrome - In infancy - feeding
difficulties and failure to thrive. Later -
hypotonia, obesity, mental retardation and
hypogonadism

• Infantile botulism - history of honey or corn

syrup consumption
 General examination
• When lying supine, all hypotonic
infants look much the same.

• Lack spontaneous movement

• Frog position:
Full abduction of the legs places the
lateral surface of the thighs against
the examining table, and the arms
lie either extended at the sides of
the body or flexed at the elbow
with the hands beside the head.
 Quality of cry
High-pitched or unusual-sounding cry - suggests CNS
pathology

A weak cry - diaphragmatic weakness

Fatigable cry - congenital myasthenic syndrome

 CASE SCENARIO
• What are the likely sites of the lesion?

• What is the most probable diagnosis?

 Physical examination

• A comprehensive neurologic
evaluation

• Assessment for dysmorphic

features

• Evaluation of the parents –Parent

may have very mild symptoms of a
serious disorder
• May point towards specific
diagnosis as in myotonic dystrophy.
 Neurologic examination

• Detailed neurologic
assessment - tone,
strength, and reflexes
• Assessment of tone
– begin by examining
posture, and
movement. A floppy
infant often lies with
limbs abducted and
extended.
 ASSESSMENT OF TONE
• INSPECTION
– Observe the spontaneous
posture of the child in bed
– Floppy infant – frog like
position(abduction at hip and
flexion at knee)

• PALPATION
– Feel the muscle
– Normal muscle rubbery
– Hypotonic muscles feel flabby
and soft
 ASSESSMENT OF TONE
• MOVEMENT AT JOINT
– Freely moving joints suggests
hypotonia
– Examine tone in all 4 limbs;
look for asymmetry
– In infants see for truncal tone
• RAG DOLL PHENOMENON
– Shake the limb to and fro and
observe the movement at the
distal joint
– If hypotonia, the ease of
movement at the distal limb will be
increased
– The distal limb will be wobbling
around like a rag doll
 ASSESSMENT OF TONE
• The range of motion in
infants can be
quantified by using
Amiel-Tison angles
• Pre requisites for
assessing the angles:
– Infant should be calm and not
crying
– Note the angles and compares
with the angle norms
– Should not use excessive force
– Head should be in the midline
or else can lead to asymmetry
 Angles and their normal values(Amiel-Tison)
ADDUCTOR ANGLE POPLITEAL ANGLE SCARF SIGN

0- 3 Months– 40°- 80° 0- 3 Months – 80 - 100 0- 3 Months – Not Reach midline

4- 6 Months– 70 – 110 4- 6 Months – 90 -120 4 – 6 Months –Reaches Midline
7-9 Months – 100 – 140 7-9 Months – 110-160 7 – 9 Months – Crosses Midline
10 – 12 Months 140 - 170 10 – 12 Mths– Reaches Opp shld
10 – 12 Months 150-170
 OTHER MANEUVERS

VENTRAL SUSPENSION SHOULDER

PULL TO SIT
SUSPENSION
 Deep tendon reflexes
Course of hypotonia
• Deep tendon reflexes (DTRs) often normal /
hyperactive in central conditions

• Clonus and primitive reflexes may persist

• DTRs - normal, decreased, or absent in peripheral

disorders
Differentiating central
From
Peripheral hypotonia
 Differential diagnosis for hypotonia

• It is often helpful to divide causes into those

that are
• ‘Central’ involving the CNS (so-called ‘floppy
strong’)
• and ‘peripheral’ involving lower motor
neurons, neuromuscular junction (NMJ), or
primary muscle disease (‘floppy weak’).
 Differential diagnosis for hypotonia
 Two categories - Central and peripheral disorders .

 Central causes account for 60% to 80% of hypotonia cases

 Most common cause is HIE / cerebral palsy in the young infant.
However, this dysfunction may progress in later infancy to
hypertonia.

 Peripheral causes occur in 15% to 30%. Include abnormalities in

the motor unit , specifically in the anterior horn cell (ie, spinal
muscular atrophy), peripheral nerve , neuromuscular junction , and
muscle

 Considerable overlap of involvement and clinical manifestations

 Indicators of central hypotonia
• Predominantly axial weakness
• •   Fisting of hands
• •   Normal strength with hypotonia
• •   Normal or brisk deep tendon reflexes,
persistent neonatal reflexes
• •   Pseudobulbar palsy, brisk jaw jerk, crossed
adductor/scissoring on vertical suspension.
 Indicators of peripheral hypotonia
• Reduced or absent spontaneous antigravity
movements with increased range of
movements
• Reduced or absent deep tendon reflexes
• Myopathic facies: Open mouth with tented
upper lip, poor lip seal, lack of facial
expression, ptosis/restricted ocular
movements
• Frog-leg posture
 
 Indicators of peripheral hypotonia
• Fasciculations (diagnostic of anterior horn cell
disease)
• Muscle atrophy/pseudohypertrophy
• Presence of respiratory and feeding
impairment.
Clues to Anterior horn cell disorders

• Hypotonia,
• Generalized weakness
• Absent reflexes,
• Feeding difficulties

Classic infantile form of spinal muscular atrophy

Fasciculations of the tongue as well as an intention tremor.
Affected infants have alert, inquisitive faces but profound
distal weakness.
 Summary – Clinical Features
Frog-like posture
Pull to sit
Vertical/Axillary suspension
testing
Ventral suspension
Drooling and oropharyngeal
pooling of secretions
Poor quality of spontaneous
movements with legs fully abducted
and arms lying by the side of body
either flexed or extended
Excessive head lag and
rounded back
Minimal support with a
sensation of
slipping through the hands
Inverted U position/ragged
doll posture
Poor swallowing ability
 Summary - Clinical Features
Weak cry Respiratory weakness

Intercostal muscles paralysis

Paradoxical breathing pattern
usually with intact diaphragm

Inefficient cough Intercostal muscles weakness

Plagiocephaly, flat occiput,

arthrogryposis, and other congenital
anomalies like dislocation of hip, Decreased fetal movements
CTEV Signs of impairment in Features suggestive of severe
level of consciousness, feeding CNS abnormalities and a sick
difficulties, seizures, apneas, abnormal floppy infant
posturing, abnormalities of ocular
movements and of brain- stem reflexes
 Laboratory evaluation
 Rule out sepsis first – sepsis investigations
 Measurement of serum electrolytes – Ca & Mg
 Liver function tests
 Urine drug screen
 Thyroid function tests
 TORCH titers
 Creatine kinase - Elevated in muscular dystrophy but not in spinal muscular
atrophy or in many myopathies.
 Karyotype – Dysmorphism
 EEG – helps in prognostication
 Genetic studies
 Muscle biopsies 
 CASE SCENARIO
• How will you confirm the diagnosis?

• How will you manage the child?

 Radiologic evaluation
MRI
•Delineate structural malformations
•Neuronal migration defects
•Abnormal signals in the basal ganglia
(mitochondrial abnormalities) or brain
stem defects (Joubert syndrome)
•Deep white matter changes can be seen
in Lowe syndrome, a peroxisomal defect
•Abnormalities in the corpus callosum
may occur in Smith- Lemli-Opitz syndrome
•Heterotopias may be seen in congenital
muscular dystrophy.
 Peripheral causes
DNA studies and electrophysiology
 Specific DNA testing - for  Electrophysiological
myotonic dystrophy and for studies - Shows
spinal muscular atrophy abnormalities in nerves,
( SMN gene ) myopathies, and disorders
of the neuromuscular
junction
 Normal EMG usually
suggest central hypotonia ,
with few exceptions
 MANAGEMENT

• Most have a progressive course and

treatment is mainly supportive
• AIMS :
– Provide life support : feeding support, intubation
and mechanical ventilation
– Prevent and relieve contractures : physiotherapy,
casts and surgical management
– Prevent and treat infections(pneumonia)
– Specific treatment – Pompe disease (enzyme
replacement therapy )
 PRINCIPLES OF Mx
• Physiotherapy : stretches aimed
at strengthening & prevention of
contractures
• Occupational therapy :
appliances, improvement of
posture and function, facilitating
activities of daily living
• Prevention and correction of
scoliosis
• Evaluation & Rx of associated
cardiac dysfunction
• Respiratory support : ventilation
and / or tracheostomy
 PRINCIPLES OF Mx
• Feeding : nasogastric feeding ,
caloric supplementation and
gastrostomy
• Orthopedic intervention in
established or evolving
contractures
Splints and mobilization
• Encouragement of overall techniques
development and stimulation
of learning
• Prevention ( influenza and
pneumococcal vaccination )
and prompt treatment of
respiratory infection
 PRINCIPLES OF Mx

• Specific treatment of cause :

– Riluzole in SMA
– Prednisolone for CIDP, Inflammatory myopathies
– High protein diet in Pompe’s disease
– L- carnitine replacement in carnitine deficiency

• GENETIC COUNSELLING
• Psychological support and counselling of
parents
 SMA type II
• Able to sit but not walk
• Not brain because cognition is normal, no seizures
• LMN – weakness with hypotonia, Proximal
weakness, atrophy, fasciculations, areflexia and
sensation - normal
• Prenatal Dx is possible.
• Genetic testing - SMN (Survival Motor Neuron)
gene deletion studies by PCR is done - exon 7 is
deleted in 95% patients
Thank you
Muscular dystrophy - subgroup of myopathies
characterized by muscle degeneration and
regeneration. Clinically, muscular dystrophies
are typically progressive, because the muscles' Muscle dystrophies
ability to regenerate is eventually lost, leading Versus
to progressive weakness, often leading to use of Congenital myopathies
a wheel chair and eventually death, usually
related to respiratory weakness

Congenital myopathies - do not show evidence

for either a progressive dystrophic process (i.e.,
muscle death) or inflammation, but instead
characteristic microscopic changes are seen in
association with reduced contractile ability of
the muscles.