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Dysmorphology

Cerebral Palsy

QuestionAnswer
CP definition A clinical set of static encephalopathies linked by their expression of variable disabilities of movement/posture (*Not progressive)
Final Common neurologic pathways The concept that the brain has a limited number of ways of expressing itself (phenotype) when something goes wrong
Common neurologic phenotypes 1. Disorders of mentation 2. Eplileptiform/paroxysmal, 3. Neurobehavioral 4. Neuromotor
Neuromotor Disorders 1. Cortical 2. Basal ganglia 3. Cerebellum 4. Long tracts 5. Anterior horn cells 5. Spinal cord 6. Peripheral nerves 7. muscles
CP Co-Morbidity 1. MR 2. Epilepsy 3. Behavioral changes 4. Movement disorders
CP Epidemiology Uncommon, prevalence 2/1000
Cases of CP in extreme prematurity 86/1000
Cases of CP in term infants 1.2/1000
Incidence stability of CP... has not decreased despite decades of improvement in prenatal/perinatal care
Cerebral Palsy Classification Spastic quadraparesis (6%), Spastic diplegia (44%), Spastic monoplegia/hemiplagia (33%), ataxic/dyskinetic (12%)
Spastic quadraparesis Only type associated with asphyxia in term infants (6%)
Spastic diplegia Most common in premies, affects just the legs (44%)
Spastic monoplegia/hemiplegia A single limb is affected, not associated with asphyxia (33%)
Ataxic/dyskinetic more discordinated movements, around 26 weeks HEI
CP Occurrence of insult 20% prenatal, 35% prenatal and perinatal, 35% perinatal, 10% postnatal *Can acquire CP at any point in life
CP Etiology: Premature infants Can identify etiology 75% of time (10% prenatal, 605 perinatal/neonatal, 30% not clear)
CP Etiology: Term infants Can identify etiology 80% of time (50% prenatal, 35% perinatal/neonatal, 15% not clear)
CP is due to prematurity... 70% of time, with only 20% being "medically preventable"
CP is found in term births... 30% of the time, with only 6-10% being "medically preventable"
What percentage of CP is "socially preventable"? (ie. FAS) 4
Why is the pattern of CP seen in premature infants notably different than that seen in term babies? The brain, cerebellum, is particularly vulnerable in extremely premature infants (under 28 weeks)
Premature viability is now seen at... 23-24 weeks
Cerebellar anomalies... "Pancake cerebellum" no periventricular white damage changes
Colpocephaly -A developmental disruption, -<1000g <26 weeks -Enlargement of posterior ventricles
Possible causes of CP 1. Hypoxic-ischemic encephalopathy 2. Genetic syndromes 3. Chromosome anomalies 4. MCA without unifying diagnosis 5. Cerebral dysgenesis 6. Teratogenic 7. Metabolic disorders 8. Coagulopathies 9. Trauma 10. Slowly progressive neuromotor disorders
HIE Hypoxic-Ischemic Encephalopathy - disturbed brain function secondary to decreased oxygen or blood supply.
HIE must be associated with all 3 of the following perinatal events: 1. Perniatal asphyxia 2. Neonatal neurologic syndrome 3. Multiorgan system dysfunction
Perinatal Asphyxia 1. Defined as decreased APGAR's, fetal acidosis or both 2. Occurs in only 20% of all cases of CP (motor dysfunctions)
Asphyxia can occur... as a secondary result of an already compromised fetus
Neonatal Neurologic Syndrome its occurrence is a sine qua non for attitributing subsequent brain injury to intrapartum events
Neonatal neurologic syndrome (birth to 12 hours) 1. Depressed level of consciousness (usually deep stupor or coma) 2. Ventilatory dependence (periodic breathing) 3. Intact pupullary responses 4. Intact oculomotor responses 5. Hypotonia with minimal movement 6. Seizures
NNS (24-72 hours) 1. Stupor or coma 2. Respiratory arrest 3. Brainstem oculomotor and pupillary disturbances 4. Catastrophic deterioration with intraventricular hemorrhage (premature)
NNS >72 hours Persistent, yet dimished stupor; disturbed sucking, swallowing, gag, and tongue movements; hypotonia> hypertonia; weakness (proximal limbs> lower (full term); hemiparesis (full term); Lower limbs (Premature))
NNS, when associated with clinically significant encephalopathy... Not subtle; indicative of recent (itrapartum) insult' prenatal insults may also have occurred; absence rules out intrapartum insult capable of causing major brain injury
Multi-organ system dysfunction Renal (ATN), Hepatic (elevated LFTs), Cardiac (elevated MB fraction of CK), Pulmonary
Three features necessary to consider intrapartum insult as a possible cause of neonatal brain injury... 1. Evidence of fetal distress 2. Depression at birth 3. Neonatal Neurologic syndrome
Asphyxia can occur as a secondary result of an ... already compromised fetus
Sotos syndrome: brain changes Macrocrania without megalencephaly - Increased sizes of fluid filled spaces in the brain - subtle markers of cerebral dysgenesis - hypoplasia of the cerebellar vermis
Sotos syndrome: Secondary CNS changes -Higher incidence of periventricular leukomalacia, (white matter); neonates with sotos at higher risk for brain injury (large infants, macrocephaly, hypotonia)
Etiology of CP Rett Syndrome, ARX mutations, inverted dup 7q (Williams)
Rett Syndrome: Expanded phenotype/females Normal, pedigrees ~XLR, skewed X-inactivation, learning disabilities, MR, non-progressive encephalopathy with spasticity
Rett Syndrome: Expanded phenotype/ males Progressive encephalopathy, spasticity and acquired microcephaly; non-progressive (static) encephalopathy
Recently recognized conditions that mimic HIE ARX mutations (esp. if infantile spasms) gene sequencing
ARX mutations... phenotype spectrum 1. Hydrocephalus 2. Lessencephaly (XLAG) 3. ACC 4. West syndrome 5. MR with epilepsy 6. Mr with dystonia 7. Not, isolated MR
Individuals with neurologic disorders and pigmentary abnormalities should have a... fibroblast karyotype if the lymphocytic karyotype is normal
Minor malformations are common in what % of CP... 50
Increased incidence of what in children with CP minor malformations
Major predictors of CP 1. Fetal malformations, 2. Maternal MR, 3. Low Birth weight
Subtle markers of Cerebral Dysgenesis 1. Hypogenesis of the corpus callosum 2. Mega cisterna magna 3. Wide septum pellucidum 4. Persistence of the cavum septum pellucidum 5. Open operculum 6. Mega cerebellum 7. Focal cortical dysplasia
Standard metabolic screening 1. Serum 2. Urine
Etiology of CP: Coagulopathies...Genetic "Clot Panel" Common: Factor V Leiden, Prothrombin (factor 2), hperhomocysteinemia, MTHFR Rare: Protein S or C deficiency, Abnormal antithrombin III, Dysfibrinoginemia... May account for 70-80% of all pathologic thrombi
Coagulopathies: Clear relationship between hemiplegic CP and... Factor V Leiden
Full coagulopathy workup if neuroimagining indications of vascular disruption
Associated with increased incidence of adverse pregnancy outcomes... 1. Miscarriage 2. Stillborn 3. Congenital anomalies 4. CP (?)
For coagulopathies, test... both parents and the child!
Etiology of CP: Trauma 1. Shaken infant 2. Spinal cord injury
Etiology of CP: Progressive neuromuscular disease Ie. Spinocerebellar ataxia X-linked OPCA
Etiology of CP: CP genes Several CP Genes recently identified by linkage but there is currently no clinical testing available
Proposed work-up for CP: (3 tiers) First... 1. Neurologic exam 2. Ophthalmologic/neuro-ophthalmologic exam 3. Family hx highlighting neurobehavioral and vascular questions 4. pregnany hx 5. dysmorphology eval (w. woods lamp) 6. brain mri 7. placental pathology
Proposed work-up for CP: (3 tiers) Second... 1. Karyotype 2. CGH 3. MECP-2 gene testing 4. Coagulopathy panel 5. Metabolic screening 6. Infectious titers **First two tiers give an 80% diagnostic yield***
Proposed work-up for CP (3 tiers) Third... *Done infrequently ... unknown yield 1. ARX gene testing (particularly with infantile spasms or dystonia), Spinal Tap, Advanced metabolic testing
Diagnosis a disorder based on... Phenotype!
Do not dx a disorder based on... Genotype!
Created by: Kali Chatham Kali Chatham on 2010-04-26



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