《NeonatalHypotoniaClinicalApproachToFloppyBaby[新生儿肌张力低下的临床方法要软盘婴儿(31)课件.ppt》由会员分享，可在线阅读，更多相关《NeonatalHypotoniaClinicalApproachToFloppyBaby[新生儿肌张力低下的临床方法要软盘婴儿(31)课件.ppt（31页珍藏版）》请在三一文库上搜索。
1、NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),1,Neonatal HypotoniaClinical Approach To Floppy Baby,Osama Naga, M.D.,PGY27/23/09,2,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Central CausesCerebral palsyHypoxic ischemic encephalopathy I
2、ntracranial hemorrhage Cerebral malformations Chromosomal abnormalities (e.g.Trisomy 21, Prader-Willi syndrome) Congenital infection TORCHAcquired infections Peroxisomal disorders Drug effects (e.g. benzodiazepines),3,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypot
3、onia,Spinal cord Birth trauma (especially Breech delivery) Syringomyelia,4,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Anterior Horn Cell Spinal Muscular Atrophy Traumatic myelopathy,5,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neon
4、atal Hypotonia,Neuromuscular junction Congenital myasthenia gravisTransient acquired neonatal myasthenia Infantile botulism,6,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Muscle Muscular dystrophies (congenital myotonic dystrophy) Congenital myopathies (e.g.
5、 central core disease),7,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Peripheral nerves Hereditary sensory motor neuropathiesCharcot-Marie-Tooth disease,8,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Metabolic myopat
6、hies Acid maltase deficiency Carnitine deficiency Cytochrome-c-oxidase deficiency,9,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,HistoryAny significant family historyAffected parentsSiblingsConsanguinityStillbirthsChildhood deaths,10,NeonatalHypotoniaClinica
7、lApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,HistoryMaternal diseaseDiabetesEpilepsyMyotonic dystrophy Pregnancy and delivery historyDrug or teratogen exposure Decreased fetal movements Abnormal presentation Polyhydramnios/ oligohydramnios,11,NeonatalHypotoniaClinicalApproachToFlop
8、pyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,HistoryApgar scores Resuscitation requirements Cord gases,12,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,HistoryHistory since delivery Respiratory effort Ability to feed Level of alertness Level of spontaneous
9、 activity Character of cry,13,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Identification of hypotoniaHolding the infant under the armsThe legs will be extendedDecreased tone of the shoulder girdle allows the infant to slip through the examiners hands,14,Neo
10、natalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Identification of hypotoniaHolding the infant in horizontal suspensionThe back hangs over the examiners hand, and the limbs and head hang looselyPassive extension of the legs at the knees no resistance is met Pulling
11、 the infant from the supine to sitting position the head lags and continues to lag when the sitting position is reached,15,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationCentralNormal strengthNormal or increased DTRsMay be SeizureMay be dys
12、morphic features,16,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationAnterior horn cellsGeneralized weakness Decreased/ absent DTRs FasciculationsOften described as alert,17,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),
13、Neonatal Hypotonia,Physical ExaminationNerveWeakness, distalproximal Decreased/ Absent DTRs +/- fasciculations,18,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationNeuromuscular JunctionWeakness, face/ eyes/ bulbar Normal DTRs No fasciculation
14、s,19,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationMusclesWeakness, proximaldistal Decreased DTRs,20,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationClues and PitfallsProfound cent
15、ral hypotonia may have absent DTRAbsent DTR in the first few DOL would not rule out a central cause for the hypotonia,21,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationClues and PitfallsPresence of profound weakness and hypotonia suggest: D
16、isorder of the lower motor neuronA sign of this may be a weak cryWeakness is uncommon in central hypotonia except in the acute stages,22,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationClues and PitfallsArthrogryposis (the fixation of joints
17、 at birth)Associated with: Neonatal hypotoniaMore commonly with lower motor neuron unitMultisystem abnormalities,23,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationCluesHepatosplenomegalyStorage disordersCongenital infections Renal cystsHigh
18、 foreheadWide fontanellesZellwegers syndrome,24,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationCluesAbnormal odor Metabolic disorders Hypopigmentation, undesceded testesPrader Willi HepatomegalyRetinitis pigmentosaNeonatal adrenoleukodystro
19、phy,25,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,Physical ExaminationCluesExamination of the motherCongenital myotonic dystrophyMyasthenia gravis,26,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,InvestigationHistor
20、y and examinationHypotonia and a degree of strengthCentral cause is most likely Hypotonic and weakPeripheral cause is possibleEarly review by the neurology service is warranted,27,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,InvestigationCentral CausesNeuroi
21、maging Ultrasound scan in the first instanceMRI for structural abnormalityEEG: if seizures suspected,28,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,InvestigationCentral CausesGenetics review if any dysmorphic features present Karyotype (if dysmorphic featur
22、es) TORCH screen DNA methylation studies or FISH for Prader-Willi syndrome (if clinically indicated after a genetics review) Metabolic work up,29,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,InvestigationPeripheral causesNeurology services review Molecular g
23、enetics CTG repeats, deletions in SMN gene,30,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),Neonatal Hypotonia,InvestigationPeripheral causesCreatine kinase: If elevated in an early sample, repeat after a few days. Nerve conduction studiesMuscle biopsyDepending on clinical situ
24、ation, may be delayed until around 6 months of age as neonatal results are difficult to interpret,31,NeonatalHypotoniaClinicalApproachToFloppyBaby新生儿肌张力低下的临床方法要软盘婴儿(31),References,1-Fenichel GM. Neonatal Neurology 3rd edition. Churchill Livingston Inc. 19902-Paro-Panjan D, Neubauer D. Congenital hypotonia: is there an algorithm? Journal of Child Neurology; Jun2004, Vol.19 (6): 439-433-Prasad AN, Prasad C. The floppy infant: contribution of genetic and metabolic disorders. Brain and Development; Oct 2003, Vol.25(7): 457-76,