Neonatal hypotoni Floppy infant syndrome -...
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Neonatal hypotoni ”Floppy infant syndrome”
Thomas Sejersen, Neuropediatriken, Astrid Lindgrens Barnsjukhus, Karolinska Universitetssjukhuset
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-illustreras ofta med trasdocka:
V Dubowitz, ”The floppy infant”, Mac Keith Press, 1991
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”Floppy infant syndome”:
A condition of marked muscle relaxation in a baby so that when supported face down the baby droops over the hand like an inverted "U”
Incidence: ?/1000
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Tecken till Hypotoni
Ø Poor ability to cough and clear airway secre4ons.
Ø Poor swallowing ability Ø Crying character [weak, low pitched] Ø Paradoxical breathing pa=ern. Intercostal muscles paralyzed with intact diaphragm.
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V Dubowitz, ”The floppy infant”, Mac Keith Press, 1991
Normal Fullterm Normal Preterm Floppy infant
-skiljer sig från ”omogen” motorik hos prematur:
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Ådén & Sejersen, Handbook of Management of Neurological Disorders in the First Year of Life (Ed C Kennedy), Mac Keith Press, 2011. Ill: R Lagercrantz
Normal nyfödd
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Ådén & Sejersen, Handbook of Management of Neurological Disorders in the First Year of Life (Ed C Kennedy), Mac Keith Press, 2011. Ill: R Lagercrantz
Floppy infant, -typiska tecken:
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Bodensteiner, Semin Pediatr Neurol 15:10-20, 2008
”Pull to sit” Scarf sign
Axillarhäng Hängande med bukstöd
Floppy infant, -typiska tecken
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”Floppy infant syndome”, -tidiga ”varningssignaler”:
• Polyhydramnios
• Minskade fosterrörelser
• Komplikationer vid förlossning
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Floppy infant: Vad är orsaken? (>200 tillstånd) Diagnostik-utredning?
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Floppy infant: Vad är orsaken? Steg 1: Central eller perifer orsak?
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Anatomisk approach till muskulär hypotoni Central orsak
Perifer orsak • Framhorn • Perifer motornerv • Motorändplatta • Muskel
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Anatomisk nivå - orsak:
Bodensteiner, Semin Pediatr Neurol 15:10-20, 2008
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Central eller perifer orsak??
Central orsak • Sänkt medvetande • (Utan svaghet) • Extremitetsreflexer
ofta stegrade • Primoreflexer sänkta
Perifer orsak • Normalt medvetande • Svaghet • Frånvaro av
extremitetsreflexer
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Central orsak: Hypoxic ischemic encephalopathy HIE* Developmental disturbance*(Prader-Willi, neuronal
migration disturbance, Down´s syndrome, ) Intracranial hemorrhage Infection (congenital or aquired) Metabolic encephalopathies Drug effects Endocrine encephalopathies Trauma (spinal cord)
* Most common causes
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Central orsak:
The Floppy Infant: Evaluation of Hypotonia. Dawn E. Peredo and Mark C. Hannibal Pediatrics in Review 2009;30
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Benign Kongenital Hypotoni
Ø The term benign congenital hypotonia is retrospective and refers to infants who are hypotonic at birth or shortly thereafter and later have normal tone.
Ø It encompasses many different pathological processes that affect the brain, the motor unit, or both.
Ø Most affected children have cerebral hypotonia. Ø An increased incidence of mental retardation,
learning disabilities, and other sequalae of cerebral abnormality are evident later in life, despite the recovery of normal muscle tone.
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Utredning central orsak:
• B-glukos, elektrolyter, blodgas, B-status/diff, s-bilirubin, screen för sepsis inkl LP
• EEG/aEEG • Ultraljud/CT/MR hjärna • Metabol utredning, TORCH • Karyotyp/Array CGH om dysmorfa drag • Genetisk analys Prader-Willi syndrom eller
annan misstänkt hereditär sjukdom/syndrom (”New generation sequencing”)
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Tecken MOTOR UNIT Hypotoni: Disorders of the motor unit are not associated with
malformations of other organs except for joint deformities and the mal development of bone structures.
Ø Absent or Depressed reflexes Ø Intact brain function Ø Muscle atrophy Ø Fasciculations Ø Failure of movement through postural reflexes Ø No extra-cranial organ malformations
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Floppy infant, -perifer orsak:
Drabba motorisk enhet: motor neuron och dess innerverade muskler
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Perifer orsak hypotoni Neuromuskulära sjukdomar:
• Motor neuron
- SMA, polio • Axon
- Guillain-Barré, HMSN • Neuromuscular junction
- Myastenia • Muscle fiber
- Myotubular myopathy
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Avsaknad av smn-1 vid SMA leder till förlust/död av motorneuron
Smn-1: • uttrycks specifikt i
motorneuron • Medverkar i bildning
spliceasomer • Smn-2 kan delvis
kompensera förlust smn-1
x
x