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Neonatal Hypotonia Clinical Approach To Floppy Baby. Osama Naga, M.D., PGY2 7/23/09. Neonatal Hypotonia. Central Causes Cerebral palsy Hypoxic ischemic encephalopathy Intracranial hemorrhage Cerebral malformations Chromosomal abnormalities (e.g.Trisomy 21, Prader-Willi syndrome) - PowerPoint PPT Presentation
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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
Neonatal HypotoniaNeonatal Hypotonia
Anterior Horn CellAnterior Horn Cell Spinal Muscular Atrophy Spinal Muscular Atrophy Traumatic myelopathy Traumatic myelopathy
Neonatal HypotoniaNeonatal Hypotonia
Neuromuscular junctionNeuromuscular junction Congenital myasthenia gravisCongenital myasthenia gravis Transient acquired neonatal myasthenia Transient acquired neonatal myasthenia Infantile botulism Infantile botulism
Neonatal HypotoniaNeonatal Hypotonia
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)
Neonatal HypotoniaNeonatal Hypotonia
Peripheral nervesPeripheral nerves Hereditary sensory motor neuropathiesHereditary sensory motor neuropathies
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Neonatal HypotoniaNeonatal Hypotonia
Metabolic myopathiesMetabolic myopathies Acid maltase deficiency Acid maltase deficiency Carnitine deficiency Carnitine deficiency Cytochrome-Cytochrome-cc-oxidase deficiency -oxidase deficiency
Neonatal HypotoniaNeonatal Hypotonia
HistoryHistory Any significant family historyAny significant family history
Affected parentsAffected parents SiblingsSiblings ConsanguinityConsanguinity StillbirthsStillbirths Childhood deaths Childhood deaths
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
HistoryHistory Apgar scores Apgar scores Resuscitation requirements Resuscitation requirements Cord gases Cord gases
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
Physical ExaminationPhysical Examination NerveNerve
Weakness, distal>proximal Weakness, distal>proximal Decreased/ Absent DTRs Decreased/ Absent DTRs +/- fasciculations +/- fasciculations
Neonatal HypotoniaNeonatal Hypotonia
Physical ExaminationPhysical Examination Neuromuscular JunctionNeuromuscular Junction
Weakness, face/ eyes/ bulbar Weakness, face/ eyes/ bulbar Normal DTRs Normal DTRs No fasciculations No fasciculations
Neonatal HypotoniaNeonatal Hypotonia
Physical ExaminationPhysical Examination MusclesMuscles
Weakness, proximal>distal Weakness, proximal>distal Decreased DTRs Decreased DTRs
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
Physical ExaminationPhysical Examination Clues and PitfallsClues and Pitfalls
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
Neonatal HypotoniaNeonatal Hypotonia
Physical ExaminationPhysical Examination Clues and PitfallsClues and Pitfalls
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
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
Physical ExaminationPhysical Examination CluesClues
Examination of the motherExamination of the mother Congenital myotonic dystrophyCongenital myotonic dystrophy Myasthenia gravis Myasthenia gravis
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
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
Neonatal HypotoniaNeonatal Hypotonia
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