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Floppy infant

This document discusses the evaluation of a floppy infant. It begins by defining a floppy infant as one presenting with generalized hypotonia, often arising from an insult during the fetal or neonatal period. It describes the clinical examination of a floppy infant and differential diagnosis, which includes central nervous system causes, spinal cord disorders, peripheral nerve disorders, neuromuscular transmission defects, muscle diseases, and systemic disorders. Key examination findings that help localize the cause of hypotonia are discussed. Common etiologies like cerebral palsy, spinal muscular atrophy, and myasthenia gravis are also summarized.

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Amr Hassan MD,FEBN Associate Professor of Neurology - Cairo University FLOPPY INFANT
 Definition  Clinical examination  Differential diagnosis  Investigations
 Definition  Clinical examination  Differential diagnosis  Investigations
Floppy infant refers to those children presenting with generalized hypotonia, most often arising out of an insult incurred during fetal or neonatal period.
 Definition  Clinical examination  Differential diagnosis  Investigations
 Definition  Clinical examination  Differential diagnosis  Investigations
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
 History  History since delivery ▪ Respiratory effort ▪ Ability to feed ▪ Level of alertness ▪ Level of spontaneous activity ▪ Character of cry ▪ Apgar scores ▪ Resuscitation requirements
 History  Any significant family history ▪ Affected parents ▪ Siblings ▪ Consanguinity ▪ Stillbirths ▪ Childhood deaths
NeurologyChapter of IAP
NeurologyChapter of IAP
 Identification of hypotonia  Holding the infant in horizontal suspension  The back hangs over the examiner's hand, and the limbs and head hang loosely  Passive extension of the legs at the knees no resistance is met  Pulling the infant from the supine to sitting position the head lags and continues to lag when the sitting position is reached
 Identification of hypotonia  Holding the infant under the arms  The legs will be extended  Decreased tone of the shoulder girdle allows the infant to slip through the examiner's hands
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.
The same infant in horizontal suspension. Note the inverted U posture.
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.
Classification( Location) Brain Spinal cord Peripheral nerves NeuromuscularTransmission Muscles Systemic disorders
Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
 Physical Examination  Clues and Pitfalls ▪ Profound central hypotonia may have absent DTR ▪ Absent DTR in the first few DOL would not rule out a central cause for the hypotonia
 Physical Examination  Clues and Pitfalls ▪ Presence of profound weakness and hypotonia suggest: ▪ Disorder of the lower motor neuron  A sign of this may be a weak cry ▪ Weakness is uncommon in central hypotonia except in the acute stages
 Physical Examination  Clues and Pitfalls ▪ Arthrogryposis (the fixation of joints at birth) ▪ Associated with:  Neonatal hypotonia  More commonly with lower motor neuron unit  Multisystem abnormalities
Clues in cerebral hypotonia Cerebral Hypotonia in newborns usually does not pose diagnostic difficulty.The history and physical examination identify the problem. Normal or Brisk reflexes Other abnormal brain functions: delay, seizures Fisting Movement through postural reflexes Scissoring on vertical suspension Dysmorphic features Extra-cranial organ malformations
Clues in motor unit hypotonia Disorders of the motor unit are not associated with malformations of other organs except for joint deformities and the mal development of bone structures. Absent or Depressed reflexes Intact brain function Muscle atrophy Fasciculations Failure of movement through postural reflexes No extra-cranial organ malformations
 Physical Examination  Anterior horn cells ▪ Generalized weakness ▪ Decreased/ absent DTRs ▪ Fasciculations ▪ Often described as alert
 Physical Examination  Nerve ▪ Weakness, distal>proximal ▪ Decreased/ Absent DTRs ▪ +/- fasciculations
 Physical Examination  Neuromuscular Junction ▪ Weakness, face/ eyes/ bulbar ▪ Normal DTRs ▪ No fasciculations
Ptosis and external ophthalmoplegia in a floppy weak child. Suggestive of myasthenia gravis.
 Physical Examination  Muscles ▪ Weakness, proximal>distal ▪ Decreased DTRs
 Definition  Clinical examination  Differential diagnosis  Investigations
 Definition  Clinical examination  Differential diagnosis  Investigations
 Physical Examination  Clues ▪ Abnormal odor ▪ Metabolic disorders ▪ Hypopigmentation, undesceded testes ▪ Prader Willi ▪ Hepatomegaly ▪ Retinitis pigmentosa ▪ Neonatal adrenoleukodystrophy
 Physical Examination  Clues ▪ Abnormal odor ▪ Metabolic disorders ▪ Hypopigmentation, undesceded testes ▪ Prader Willi ▪ Hepatomegaly ▪ Retinitis pigmentosa ▪ Neonatal adrenoleukodystrophy
Central nervous system  Perinatal asphyxia, neonatal, encephalopathy, kernicterus, cerebral palsy (atonic type).  Intracranial hemorrhage.  Cerebral malformations  Chromosomal abnormalities (e.g.Trisomy 21, Prader-Willi syndrome)  Congenital infectionTORCH  Acquired infections  Peroxisomal disorders  Drug effects (e.g. benzodiazepines)  Inborn errors of metabolism e.g., aminocidurias, mucopolysaccharidosis and cerebral lipidosis.
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.
Spinal cord  Spinal Cord Injury – Broken Neck  Infections Enterovirus - POLIO Transverse Myelitis  Mass lesions
Injuries in Breech Presentation  Injuries to the cervical spinal cord occur almost exclusively during vaginal delivery;  approximately 75% are associated with breech presentation and 25% with cephalic presentation.  Because the injuries are always associated with a difficult and prolonged delivery, decreased consciousness is common, and hypotonia is falsely attributed to asphyxia or cerebral trauma.  MRI of the spine shows intraspinal edema and hemorrhage
Injuries in Cephalic Presentation  Twisting of the neck during midforceps rotation causes high cervical cord injuries in cephalic presentation.  The trunk fails to rotate with the head.  The risk is greatest when amniotic fluid is absent because of delay from the time of membrane rupture to the application of forceps.
Poliovirus Infection  Small RNA virus : Neurotropic  Seasonal epidemics  Prodromal illness  Pain -->Asymmetric Paralysis  Rare but still occurs  vaccine related : 1 in 12 million
Mass lesions of spinal cord  Rare  Intra-AbdominalTumors  Neuroblastoma  Early in Infancy
12/21/2018 44 1. The anterior (ventral) horn cell 2.The radicle (root). 3.The peripheral nerve. 4.The neuromuscular junction. 5. The muscle. 5 4 2 1 2 2 3
Anterior Horn cell (neuronal) degeneration ProgressiveWeakness: Proximal > Distal Hypotonia Areflexia Atrophy / Fasciculations Intact Brain Development
NeurologyChapter of IAP
NeurologyChapter of IAP
NeurologyChapter of IAP
NeurologyChapter of IAP
 SMA is the second most common autosomal recessive disease in the US after cystic fibrosis.  Incidence:  Type 1: 1 per 10,000 live births  Types II and III: 1 per 24,000 births  Worldwide 7.8-10 cases per 100,000 live births  ? M:F predominance or M>F  No ethnic predominance.
 The genetic defects associated with SMA types I-III are localized on chromosome 5q11.2-13.3.  Mutations in the SMN gene result in a loss of function of the SMN protein.  Many classification systems based on inheritance, clinical, and genetic criteria.
SMA type I, (Werdnig-Hoffmann acute infantile), occur birth – 6 months (95% by 3 months) Severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). Bulbar dysfunction includes poor suck ability, reduced swallowing, and respiratory failure. Patients have no involvement of the extraocular muscles, and facial weakness is often minimal or absent. They have no evidence of cerebral involvement, and infants appear alert.
 Impaired fetal movements are observed in 30% of cases  60% of infants with SMA type I are floppy babies at birth. Prolonged cyanosis may be noted at delivery.  In some instances, the disease can cause fulminant weakness in the first few days of life. Such severe weakness and early bulbar dysfunction -> mean survival of 5.9 months.  Affected children never sit or stand.  In 95% of cases, infants die from complications of the disease by 18 months.
 SMA type II (chronic infantile, sitters) usually begin between 6 - 18 months.  Most common form of SMA  Most common manifestation is developmental motor delay. Infants with SMA type II often have difficulties with sitting independently or failure to stand by 1 year of age.  These children may learn to sit but will never be able to stand or walk.
 An unusual feature of the disease is a postural tremor affecting the fingers. This is thought to be related to fasciculations in the skeletal muscles  Pseudohypertrophy of the gastrocnemius muscle, musculoskeletal deformities, and respiratory failure can occur.  The lifespan of patients with SMA type II varies from 2 years to the third decade of life. Respiratory infections account for most deaths.
 SMA type III (Kugelberg-Welander, chronic juvenile, walkers) appear 18 months – adult.  Slowly progressive proximal weakness. Most can stand and walk but have trouble with motor skills, such as going up and down stairs.  Bulbar dysfunction occurs late in the disease.  Patients may show evidence of pseudohypertrophy.  The disease progresses slowly, and the overall course is mild. Many patients have normal life expectancies.
 Congenital SMA with arthrogryposis (persistent contracture of joints with fixed abnormal posture of the limb) is a rare disorder. Manifestations include 1. severe contractures, 2. curvature of the spine, 3. chest deformity, 4. respiratory problems, 5. an unusually small jaw, and 6. drooping upper eyelids.
12/21/2018 62 1. The anterior (ventral) horn cell 2.The radicle (root). 3.The peripheral nerve. 4.The neuromuscular junction. 5. The muscle. 5 4 2 1 2 2 3
 Polyneuropathy  Dysmyelination ▪ Autoimmune ▪ Congenital / genetic  Dysautonomia
 Peripheral nerves  Hereditary sensory motor neuropathies ▪ Charcot-Marie-Tooth disease
12/21/2018 65 1. The anterior (ventral) horn cell 2.The radicle (root). 3.The peripheral nerve. 4.The neuromuscular junction. 5. The muscle. 5 4 2 1 2 2 3
 Toxins ▪ Botulism  Myasthenia ▪ Congenital ▪ Neonatal transitory
Infantile myasthenia  FAMILIAL-INFANTILE Multiple Genetic Defects: AR + AD Pre & Post Synaptic AChR abnormalities Respiratory or feeding problems at birth  CONGENITAL Usually Bilateral Ptosis & Ophthalmoplegia Multiple Genetic Defects: AR  NEONATAL-TRANSITORY 10 - 15% of myasthenic mothers
The CMS conditions represent genetic defects of neuromuscular transmission
Infantile botulism Infants usually 2 - 26 weeks old Clostridium Botulinum --> Exotoxin Prevents release of Acetylcholine Cholinergic Blockade of skeletal muscle Source of intestinal colonization usually unclear Occurs mainly between March & October
Prodrome: poor feeding & constipation Progressive bulbar & general weakness Loss of deep tendon reflexes Hypotonia Dysphagia Ptosis Sluggish dilated pupils
12/21/2018 71 1. The anterior (ventral) horn cell 2.The radicle (root). 3.The peripheral nerve. 4.The neuromuscular junction. 5. The muscle. 5 4 2 1 2 2 3
 Muscle  Muscular dystrophies (congenital myotonic dystrophy)  Congenital myopathies (e.g. central core disease)
 Metabolic myopathies  Acid maltase deficiency  Carnitine deficiency  Cytochrome-c-oxidase deficiency
Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
NeurologyChapter of IAP
NeurologyChapter of IAP
Systemic Genetic disorders Prader-willi Angelman’s syndrome Cri du chat Cerebro-hepato-renal sydrome William’s syndrome Trisomy 21 Trisomy 13
 SYSTEMIC Systemic Metabolic Mitochondrial Congenital lactic acidosis Hyperammonemia Aminoacidurias Non-ketotic hyperglycinemia Celiac disease
NeurologyChapter of IAP
NeurologyChapter of IAP
NeurologyChapter of IAP
NeurologyChapter of IAP
NeurologyChapter of IAP
Prader-Willi syndrome Hypogenitalism 100% Cryptorchidism 84% Decreased Fetal Movement 75% Congenital Hip Dislocation 10% Clubfoot 6% Profound Infantile Hypotonia Mental Retardation Decreased / Absent DTRs Short Stature Obesity / Insatiable Appetite
 Investigation  Central Causes ▪ Neuroimaging ▪ Ultrasound scan in the first instance ▪ MRI for structural abnormality ▪ EEG: if seizures suspected
 Investigation  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
Metabolic evaluation Arterial Blood: Lactate, Pyruvate, ABG Venous Blood: Ammonia, Chemistries CBC, Carnitine profile, Amino Acids Urine: Organic & Amino Acids CSF: Lactate,Amino Acids (Glycine) Muscle: It Depends Investigations
 Investigation  Peripheral causes ▪ 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
 Investigation  Peripheral causes ▪ Molecular genetics – CTG repeats, deletions in SMN gene
Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
Bodensteiner JB. The evaluation of the hypotonic infant. Semin Pediatr Neurol. 2008
Site of involvement Deep tendon reflexes EMG Muscle biopsy Central 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 Muscle Decreased Short duration small amplitude potential Characteristic NeurologyChapter of IAP
THANKYOU amrhasanneuro@kasralainy.edu.eg