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Dysmorphology
Cerebral Palsy
| Question | Answer |
|---|---|
| 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:
KChatham
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