Floppy Child

FLOPPY CHILD

Hassan Mohammad Al-Shehri

Objectives

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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 

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(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  Acid

maltase deficiency  Carnitine deficiency  Cytochrome-c-oxidase deficiency

Clues to diagnosis   

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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     

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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 

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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

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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  

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Supportive[respiratory, gastrointestinal] Once the correct diagnosis is confirmed, specific treatments should be offered if available Physiotherapy: 

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mainly preventative to avoid contractures and wasting, but will not increase muscle tone

Genetics counseling.

Prognosis 

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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 

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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 

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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!