Floppy Child

FLOPPY CHILD
Hassan Mohammad Al-Shehri

Objectives
 Definition
 Risk factors
 Classification
 History taking and signs of hypotonia
 Investigations
 Management and prognosis.
Introduction
 Neurological disorders are common in

Saudi Arabia.
accounts for 25–30% of all consultations

to pediatrics
Definition
Muscle tone is defined as resistance to

passive
movement.
 Hypotonia means "low tone," and refers

to a physiological state in which a
muscle has decreased tone, or tension.
Assessment
Prenatal risk factors:
• History of drug or teratogen exposure
• Presence of polyhydramnios
• Maternal diseases (diabetes, epilepsy)
• Parental age
• Consanguinity
• Family history of neuromuscular disease
• Other affected siblings
Assessment
Birth/perinatal risk factors

 (1) History of prematurity: increased risk for cerebral palsy or
central causes.
 (3) Difficulties sucking/swallowing: may be seen with hypoxic
ischemic injury but if not in context with overall clinical picture,
reflects possible neuromuscular cause.
 (4) Poor respiratory effort: may be seen with hypoxic ischemic
injury but if not in context with overall clinical picture, reflects
possible neuromuscular cause.
 (5) Encephalopathy: if out of context of birth history, may reflect
underlying metabolic disorder or severe cerebral dysgenesis.
 (6) Neonatal seizures: may reflect underlying metabolic disorder or
cerebral dysgenesis.
 (7) Unexplained metabolic “lab” abnormalities: consider
metabolic disturbances and inborn errors of metabolism.
Classification
 Central
 Spinal Cord
 Anterior Horn Cell
 Neuromuscular Junction
 Muscle
 Peripheral Nerves
 Metabolic myopathies
Classification
 Central Causes
 Cerebral palsy
 Intracranial hemorrhage
 Cerebral malformations
 Chromosomal abnormalities
 Hypoxic ischemic encephalopathy
 Congenital infection
 Acquired infections
 Peroxisomal disorders
 Drug effects
Classification
 Spinal cord
 Birth trauma (especially Breech delivery)
 Syringomyelia
Clues to diagnosis
History of:
- brain insult
- seizures
- dysmorphic features
- lack of interest in surroundings
- abnormal head size
- spontaneous movements
- normal or increased reflexes,
persistence of primitive reflexes
Classification
 Anterior Horn Cell
 Spinal
Muscular Atrophy
 Traumatic myelopathy
Classification
 Neuromuscular junction
 Congenital myasthenia gravis

 Transient acquired neonatal myasthenia
 Infantile botulism
Classification
 Muscle
 Muscular dystrophies (congenital myotonic

dystrophy)
 Congenital myopathies (e.g. central core
disease)
Classification
 Peripheral nerves
 Hereditary sensory motor neuropathies

 Charcot-Marie-Tooth disease
Classification
 Metabolic myopathies
 Acidmaltase deficiency
 Carnitine deficiency
 Cytochrome-c-oxidase deficiency
Clues to diagnosis
 Decreased fetal movements

 Alertness and responsiveness
 Weakness with little spontaneous
movements
 Absent or decreased reflexes
 Fasciculation, muscle atrophy
 Sensory loss.
History Taking
Any significant family history?
Was the hypotonia present at birth?
Pregnancy and delivery history
 Drug or teratogen exposure
 Decreased fetal movements
 Abnormal presentation
 Polyhydramnios/ oligohydramnios
 Apgar scores
 Resuscitation requirements
 Cord gases
Signs of Hypotonia
 In supine, Frog position

 Their heads lag when are held up
 They slip through at the shoulders
 Do not stand upright on their legs
 Form inverted U shape in ventral
suspention
 Lie flat when in prone position.
Signs of Hypotonia
 Poor ability to cough and clear airway

secretions.
 Poor swallowing ability
 Crying character [weak, low pitched]
 Paradoxical breathing pattern.
Intercostal muscles paralyzed with intact
diaphragm.
Signs of Hypotonia
Ventral suspension
Inverted U position
 The back hangs over the
examiner's hand, and
the limbs and head hang
loosely
 Passive extension of the
legs
Pull to sit
 Head lag
Signs of Hypotonia
The same infant in horizontal

suspension. Note the inverted U posture.
Signs of Hypotonia
A 12-week-old male infant with excessive head-lag evident on

‘pull-to-sit’. Note the hypotonic posture of the legs with
external rotation.
Signs of Hypotonia
Vertical suspension:
 The legs will be extended
 Decreased tone of the shoulder girdle allows the
infant to slip through the examiner's hands
Signs of Hypotonia
Ptosis and external ophthalmoplegia in a floppy weak child.

Suggestive of myasthenia gravis.
Investigations
Required investigations depend upon history

and physical examination findings.
Investigations
 Central Causes
 Neuroimaging
 Ultrasound scan in the first instance
 MRI for structural abnormality
 EEG: if seizures suspected
Investigations
 Central Causes
 Genetics review if any dysmorphic features present

 Karyotype (if dysmorphic features)
 TORCH screen
 DNA methylation studies or FISH for Prader-Willi
syndrome (if clinically indicated after a genetics
review)
 Metabolic work up
Investigations
 Peripheral causes
 Neurology services review

 Molecular genetics – CTG repeats, deletions in SMN
gene
 Creatine kinase: If elevated in an early sample, repeat
after a few days.
 Nerve conduction studies
 Muscle biopsy
 Depending on clinical situation, may be delayed until
around 6 months of age as neonatal results are difficult to
interpret
Management
 Supportive[respiratory, gastrointestinal]
 Once the correct diagnosis is confirmed, specific
treatments should be offered if available
 Physiotherapy:
 mainly preventative to avoid contractures and wasting, but will
not increase muscle tone
 Genetics counseling.
Prognosis
 Currently no known treatment or cure for most

causes of hypotonia, and objective
manifestations can be life long.
 The outcome in any particular case of hypotonia
depends largely on the nature of the underlying
disease.
Prognosis
 In some cases, muscle tone improves

over time, or the patient may learn
mechanisms that enable him to
overcome the most disabling aspects of
the disorder.
 Hypotonia caused by cerebellar
dysfunction or motor neuron diseases
can be progressive and life-threatening.
Resources
 Mohammed M.S. Jan (2007) , “The hypotonic

infant: Clinical approach”. Journal of Pediatric
Neurology 5 2007
 Nelson Essential of Pediatrics 5th edition
 Pedbase.org
Thank You!

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FLOPPY CHILD

Hassan Mohammad Al-Shehri

 Neurological disorders are common in

accounts for 25–30% of all consultations

Muscle tone is defined as resistance to

 Hypotonia means "low tone," and refers

Birth/perinatal risk factors

 Anterior Horn Cell

 Congenital myasthenia gravis

 Muscular dystrophies (congenital myotonic

 Hereditary sensory motor neuropathies

 Decreased fetal movements

 In supine, Frog position

 Poor ability to cough and clear airway

The same infant in horizontal

A 12-week-old male infant with excessive head-lag evident on

Ptosis and external ophthalmoplegia in a floppy weak child.

Required investigations depend upon history

 Genetics review if any dysmorphic features present

 Neurology services review

 Currently no known treatment or cure for most

 In some cases, muscle tone improves

 Mohammed M.S. Jan (2007) , “The hypotonic

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