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Neonatal Hypotonia Clinical Approach To Floppy Baby Osama Naga, M.D., PGY27/23/09.

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Presentation on theme: "Neonatal Hypotonia Clinical Approach To Floppy Baby Osama Naga, M.D., PGY27/23/09."— Presentation transcript:

1 Neonatal Hypotonia Clinical Approach To Floppy Baby Osama Naga, M.D., PGY27/23/09

2 Neonatal Hypotonia Central Causes Central Causes Cerebral palsy Cerebral palsy Hypoxic ischemic encephalopathy Hypoxic ischemic encephalopathy Intracranial hemorrhage Intracranial hemorrhage Cerebral malformations Cerebral malformations Chromosomal abnormalities (e.g.Trisomy 21, Prader-Willi syndrome) Chromosomal abnormalities (e.g.Trisomy 21, Prader-Willi syndrome) Congenital infection TORCH Congenital infection TORCH Acquired infections Acquired infections Peroxisomal disorders Peroxisomal disorders Drug effects (e.g. benzodiazepines) Drug effects (e.g. benzodiazepines)

3 Neonatal Hypotonia Spinal cord Spinal cord Birth trauma (especially Breech delivery) Birth trauma (especially Breech delivery) Syringomyelia Syringomyelia

4 Neonatal Hypotonia Anterior Horn Cell Anterior Horn Cell Spinal Muscular Atrophy Spinal Muscular Atrophy Traumatic myelopathy Traumatic myelopathy

5 Neonatal Hypotonia Neuromuscular junction Neuromuscular junction Congenital myasthenia gravis Congenital myasthenia gravis Transient acquired neonatal myasthenia Transient acquired neonatal myasthenia Infantile botulism Infantile botulism

6 Neonatal Hypotonia Muscle Muscle Muscular dystrophies (congenital myotonic dystrophy) Muscular dystrophies (congenital myotonic dystrophy) Congenital myopathies (e.g. central core disease) Congenital myopathies (e.g. central core disease)

7 Neonatal Hypotonia Peripheral nerves Peripheral nerves Hereditary sensory motor neuropathies Hereditary sensory motor neuropathies Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease

8 Neonatal Hypotonia Metabolic myopathies Metabolic myopathies Acid maltase deficiency Acid maltase deficiency Carnitine deficiency Carnitine deficiency Cytochrome-c-oxidase deficiency Cytochrome-c-oxidase deficiency

9 Neonatal Hypotonia History History Any significant family history Any significant family history Affected parents Affected parents Siblings Siblings Consanguinity Consanguinity Stillbirths Stillbirths Childhood deaths Childhood deaths

10 Neonatal Hypotonia History History Maternal disease Maternal disease Diabetes Diabetes Epilepsy Epilepsy Myotonic dystrophy Myotonic dystrophy Pregnancy and delivery history Pregnancy 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

11 Neonatal Hypotonia History History Apgar scores Apgar scores Resuscitation requirements Resuscitation requirements Cord gases Cord gases

12 Neonatal Hypotonia History History 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 cry Character of cry

13 Neonatal Hypotonia Identification of hypotonia Identification of hypotonia Holding the infant under the arms Holding the infant under the arms The legs will be extended The legs will be extended Decreased tone of the shoulder girdle allows the infant to slip through the examiner's hands Decreased tone of the shoulder girdle allows the infant to slip through the examiner's hands

14 Neonatal Hypotonia Identification of hypotonia Identification of hypotonia Holding the infant in horizontal suspension Holding the infant in horizontal suspension The back hangs over the examiner's hand, and the limbs and head hang loosely 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 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 Pulling the infant from the supine to sitting position the head lags and continues to lag when the sitting position is reached

15 Neonatal Hypotonia Physical Examination Physical Examination Central Central Normal strength Normal strength Normal or increased DTRs Normal or increased DTRs May be Seizure May be Seizure May be dysmorphic features May be dysmorphic features

16 Neonatal Hypotonia Physical Examination Physical Examination Anterior horn cells Anterior horn cells Generalized weakness Generalized weakness Decreased/ absent DTRs Decreased/ absent DTRs Fasciculations Fasciculations Often described as alert Often described as alert

17 Neonatal Hypotonia Physical Examination Physical Examination Nerve Nerve Weakness, distal>proximal Weakness, distal>proximal Decreased/ Absent DTRs Decreased/ Absent DTRs +/- fasciculations +/- fasciculations

18 Neonatal Hypotonia Physical Examination Physical Examination Neuromuscular Junction Neuromuscular Junction Weakness, face/ eyes/ bulbar Weakness, face/ eyes/ bulbar Normal DTRs Normal DTRs No fasciculations No fasciculations

19 Neonatal Hypotonia Physical Examination Physical Examination Muscles Muscles Weakness, proximal>distal Weakness, proximal>distal Decreased DTRs Decreased DTRs

20 Neonatal Hypotonia Physical Examination Physical Examination Clues and Pitfalls Clues and Pitfalls Profound central hypotonia may have absent DTR Profound central hypotonia may have absent DTR Absent DTR in the first few DOL would not rule out a central cause for the hypotonia Absent DTR in the first few DOL would not rule out a central cause for the hypotonia

21 Neonatal Hypotonia Physical Examination Physical Examination Clues and Pitfalls Clues and Pitfalls Presence of profound weakness and hypotonia suggest: Presence of profound weakness and hypotonia suggest: Disorder of the lower motor neuron Disorder of the lower motor neuron A sign of this may be a weak cry A sign of this may be a weak cry Weakness is uncommon in central hypotonia except in the acute stages Weakness is uncommon in central hypotonia except in the acute stages

22 Neonatal Hypotonia Physical Examination Physical Examination Clues and Pitfalls Clues and Pitfalls Arthrogryposis (the fixation of joints at birth) Arthrogryposis (the fixation of joints at birth) Associated with: Associated with: Neonatal hypotonia Neonatal hypotonia More commonly with lower motor neuron unit More commonly with lower motor neuron unit Multisystem abnormalities Multisystem abnormalities

23 Neonatal Hypotonia Physical Examination Physical Examination Clues Clues Hepatosplenomegaly Hepatosplenomegaly Storage disorders Storage disorders Congenital infections Congenital infections Renal cysts Renal cysts High forehead High forehead Wide fontanelles Wide fontanelles Zellweger’s syndrome Zellweger’s syndrome

24 Neonatal Hypotonia Physical Examination Physical Examination Clues Clues Abnormal odor Abnormal odor Metabolic disorders Metabolic disorders Hypopigmentation, undesceded testes Hypopigmentation, undesceded testes Prader Willi Prader Willi Hepatomegaly Hepatomegaly Retinitis pigmentosa Retinitis pigmentosa Neonatal adrenoleukodystrophy Neonatal adrenoleukodystrophy

25 Neonatal Hypotonia Physical Examination Physical Examination Clues Clues Examination of the mother Examination of the mother Congenital myotonic dystrophy Congenital myotonic dystrophy Myasthenia gravis Myasthenia gravis

26 Neonatal Hypotonia Investigation Investigation History and examination History and examination Hypotonia and a degree of strength Hypotonia and a degree of strength Central cause is most likely Central cause is most likely Hypotonic and weak Hypotonic and weak Peripheral cause is possible Peripheral cause is possible Early review by the neurology service is warranted Early review by the neurology service is warranted

27 Neonatal Hypotonia Investigation Investigation Central Causes Central Causes Neuroimaging Neuroimaging Ultrasound scan in the first instance Ultrasound scan in the first instance MRI for structural abnormality MRI for structural abnormality EEG: if seizures suspected EEG: if seizures suspected

28 Neonatal Hypotonia Investigation Investigation Central Causes Central Causes Genetics review if any dysmorphic features present Genetics review if any dysmorphic features present Karyotype (if dysmorphic features) Karyotype (if dysmorphic features) TORCH screen TORCH screen DNA methylation studies or FISH for Prader-Willi syndrome (if clinically indicated after a genetics review) DNA methylation studies or FISH for Prader-Willi syndrome (if clinically indicated after a genetics review) Metabolic work up Metabolic work up

29 Neonatal Hypotonia Investigation Investigation Peripheral causes Peripheral causes Neurology services review Neurology services review Molecular genetics – CTG repeats, deletions in SMN gene Molecular genetics – CTG repeats, deletions in SMN gene

30 Neonatal Hypotonia Investigation Investigation Peripheral causes Peripheral causes Creatine kinase: If elevated in an early sample, repeat after a few days. Creatine kinase: If elevated in an early sample, repeat after a few days. Nerve conduction studies Nerve conduction studies Muscle biopsy Muscle biopsy Depending on clinical situation, may be delayed until around 6 months of age as neonatal results are difficult to interpret Depending on clinical situation, may be delayed until around 6 months of age as neonatal results are difficult to interpret

31 References 1-Fenichel GM. Neonatal Neurology 3rd edition. Churchill Livingston Inc Fenichel GM. Neonatal Neurology 3rd edition. Churchill Livingston Inc Paro-Panjan D, Neubauer D. Congenital hypotonia: is there an algorithm? Journal of Child Neurology; Jun2004, Vol.19 (6): Paro-Panjan D, Neubauer D. Congenital hypotonia: is there an algorithm? Journal of Child Neurology; Jun2004, Vol.19 (6): Prasad AN, Prasad C. The floppy infant: contribution of genetic and metabolic disorders. Brain and Development; Oct 2003, Vol.25(7): Prasad AN, Prasad C. The floppy infant: contribution of genetic and metabolic disorders. Brain and Development; Oct 2003, Vol.25(7):


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