Neonatal Hypotonia Clinical Approach To Floppy Baby

Neonatal Neonatal HypotoniaHypotonia

Clinical Approach To Clinical Approach To Floppy BabyFloppy Baby

Osama Naga, M.D.,Osama Naga, M.D.,

PGY2PGY2

7/23/097/23/09

Neonatal HypotoniaNeonatal Hypotonia Central CausesCentral Causes

Cerebral palsyCerebral palsy Hypoxic ischemic encephalopathy Hypoxic ischemic encephalopathy Intracranial hemorrhage Intracranial hemorrhage Cerebral malformations Cerebral malformations Chromosomal abnormalities (e.g.Trisomy 21, Chromosomal abnormalities (e.g.Trisomy 21,

Prader-Willi syndrome) Prader-Willi syndrome) Congenital infection TORCHCongenital infection TORCH Acquired infections Acquired infections Peroxisomal disorders Peroxisomal disorders Drug effects (e.g. benzodiazepines) Drug effects (e.g. benzodiazepines)

Neonatal HypotoniaNeonatal Hypotonia

Spinal cordSpinal cord Birth trauma (especially Breech Birth trauma (especially Breech

delivery) delivery) Syringomyelia Syringomyelia


Anterior Horn CellAnterior Horn Cell Spinal Muscular Atrophy Spinal Muscular Atrophy Traumatic myelopathy Traumatic myelopathy


Neuromuscular junctionNeuromuscular junction Congenital myasthenia gravisCongenital myasthenia gravis Transient acquired neonatal myasthenia Transient acquired neonatal myasthenia Infantile botulism Infantile botulism


MuscleMuscle Muscular dystrophies (congenital Muscular dystrophies (congenital

myotonic dystrophy) myotonic dystrophy) Congenital myopathies (e.g. central Congenital myopathies (e.g. central

core disease) core disease)


Peripheral nervesPeripheral nerves Hereditary sensory motor neuropathiesHereditary sensory motor neuropathies

Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease


Metabolic myopathiesMetabolic myopathies Acid maltase deficiency Acid maltase deficiency Carnitine deficiency Carnitine deficiency Cytochrome-Cytochrome-cc-oxidase deficiency -oxidase deficiency


HistoryHistory Any significant family historyAny significant family history

Affected parentsAffected parents SiblingsSiblings ConsanguinityConsanguinity StillbirthsStillbirths Childhood deaths Childhood deaths


HistoryHistory Maternal diseaseMaternal disease

DiabetesDiabetes EpilepsyEpilepsy Myotonic dystrophy Myotonic dystrophy

Pregnancy and delivery historyPregnancy and delivery history Drug or teratogen exposure Drug or teratogen exposure Decreased fetal movements Decreased fetal movements Abnormal presentation Abnormal presentation Polyhydramnios/ oligohydramnios Polyhydramnios/ oligohydramnios


HistoryHistory Apgar scores Apgar scores Resuscitation requirements Resuscitation requirements Cord gases Cord gases


HistoryHistory History since delivery History since delivery

Respiratory effort Respiratory effort Ability to feed Ability to feed Level of alertness Level of alertness Level of spontaneous activity Level of spontaneous activity Character of cryCharacter of cry


Identification of Identification of hypotoniahypotonia Holding the infant Holding the infant

under the armsunder the arms The legs will be The legs will be

extendedextended Decreased tone of Decreased tone of

the shoulder girdle the shoulder girdle allows the infant to allows the infant to slip through the slip through the examiner's hands examiner's hands

Neonatal HypotoniaNeonatal Hypotonia Identification of Identification of

hypotoniahypotonia Holding the infant in Holding the infant in

horizontal suspensionhorizontal suspension The back hangs over the The back hangs over the

examiner's hand, and the examiner's hand, and the limbs and head hang looselylimbs and head hang loosely

Passive extension of the Passive extension of the legs at the knees no legs at the knees no resistance is met resistance is met

Pulling the infant from the Pulling the infant from the supine to sitting position supine to sitting position the head lags and continues the head lags and continues to lag when the sitting to lag when the sitting position is reachedposition is reached


Physical ExaminationPhysical Examination CentralCentral

Normal strengthNormal strength Normal or increased DTRsNormal or increased DTRs May be SeizureMay be Seizure May be dysmorphic features May be dysmorphic features


Physical ExaminationPhysical Examination Anterior horn cellsAnterior horn cells

Generalized weakness Generalized weakness Decreased/ absent DTRs Decreased/ absent DTRs FasciculationsFasciculations Often described as alert Often described as alert


Physical ExaminationPhysical Examination NerveNerve

Weakness, distal>proximal Weakness, distal>proximal Decreased/ Absent DTRs Decreased/ Absent DTRs +/- fasciculations +/- fasciculations


Physical ExaminationPhysical Examination Neuromuscular JunctionNeuromuscular Junction

Weakness, face/ eyes/ bulbar Weakness, face/ eyes/ bulbar Normal DTRs Normal DTRs No fasciculations No fasciculations


Physical ExaminationPhysical Examination MusclesMuscles

Weakness, proximal>distal Weakness, proximal>distal Decreased DTRs Decreased DTRs


Physical ExaminationPhysical Examination Clues and PitfallsClues and Pitfalls

Profound central hypotonia may have Profound central hypotonia may have absent DTRabsent DTR

Absent DTR in the first few DOL would not Absent DTR in the first few DOL would not rule out a central cause for the hypotonia rule out a central cause for the hypotonia



Presence of profound weakness and Presence of profound weakness and hypotonia suggest: hypotonia suggest:

Disorder of the lower motor neuronDisorder of the lower motor neuron A sign of this may be a weak cryA sign of this may be a weak cry

Weakness is uncommon in central Weakness is uncommon in central hypotonia except in the acute stages hypotonia except in the acute stages



Arthrogryposis (the fixation of joints at Arthrogryposis (the fixation of joints at birth)birth)

Associated with: Associated with: Neonatal hypotoniaNeonatal hypotonia More commonly with lower motor neuron unitMore commonly with lower motor neuron unit Multisystem abnormalities Multisystem abnormalities


Physical Physical ExaminationExamination CluesClues

HepatosplenomegalyHepatosplenomegaly Storage disordersStorage disorders Congenital Congenital

infections infections Renal cystsRenal cysts High foreheadHigh forehead Wide fontanellesWide fontanelles

Zellweger’s Zellweger’s syndrome syndrome


Physical ExaminationPhysical Examination CluesClues

Abnormal odor Abnormal odor Metabolic disorders Metabolic disorders

Hypopigmentation, undesceded testesHypopigmentation, undesceded testes Prader Willi Prader Willi

HepatomegalyHepatomegaly Retinitis pigmentosaRetinitis pigmentosa

Neonatal adrenoleukodystrophyNeonatal adrenoleukodystrophy


Physical ExaminationPhysical Examination CluesClues

Examination of the motherExamination of the mother Congenital myotonic dystrophyCongenital myotonic dystrophy Myasthenia gravis Myasthenia gravis


InvestigationInvestigation History and examinationHistory and examination

Hypotonia and a degree of strengthHypotonia and a degree of strength Central cause is most likely Central cause is most likely

Hypotonic and weakHypotonic and weak Peripheral cause is possiblePeripheral cause is possible

Early review by the neurology service is Early review by the neurology service is warranted warranted


InvestigationInvestigation Central CausesCentral Causes

Neuroimaging Neuroimaging Ultrasound scan in the first instanceUltrasound scan in the first instance MRI for structural abnormalityMRI for structural abnormality EEG: if seizures suspected EEG: if seizures suspected


InvestigationInvestigation Central CausesCentral Causes

Genetics review if any dysmorphic features Genetics review if any dysmorphic features present present

Karyotype (if dysmorphic features) Karyotype (if dysmorphic features) TORCH screen TORCH screen DNA methylation studies or FISH for DNA methylation studies or FISH for

Prader-Willi syndrome (if clinically Prader-Willi syndrome (if clinically indicated after a genetics review) indicated after a genetics review)

Metabolic work upMetabolic work up


InvestigationInvestigation Peripheral causesPeripheral causes

Neurology services review Neurology services review Molecular genetics – CTG repeats, deletions Molecular genetics – CTG repeats, deletions

in SMN gene in SMN gene


InvestigationInvestigation Peripheral causesPeripheral causes

Creatine kinase: If elevated in an early Creatine kinase: If elevated in an early sample, repeat after a few days. sample, repeat after a few days.

Nerve conduction studiesNerve conduction studies Muscle biopsyMuscle biopsy

Depending on clinical situation, may be delayed Depending on clinical situation, may be delayed until around 6 months of age as neonatal results until around 6 months of age as neonatal results are difficult to interpret are difficult to interpret

ReferencesReferences 1-Fenichel GM. Neonatal Neurology 3rd edition. Churchill Livingston Inc. 19901-Fenichel GM. Neonatal Neurology 3rd edition. Churchill Livingston Inc. 1990 2-Paro-Panjan D, Neubauer D. Congenital hypotonia: is there an algorithm? Journal 2-Paro-Panjan D, Neubauer D. Congenital hypotonia: is there an algorithm? Journal

of Child Neurology; Jun2004, Vol.19 (6): 439-43of Child Neurology; Jun2004, Vol.19 (6): 439-43 3-Prasad AN, Prasad C. The floppy infant: contribution of genetic and metabolic 3-Prasad AN, Prasad C. The floppy infant: contribution of genetic and metabolic

disorders. Brain and Development; Oct 2003, Vol.25(7): 457-76disorders. Brain and Development; Oct 2003, Vol.25(7): 457-76

Neonatal Hypotonia Clinical Approach To Floppy Baby

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