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Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
Slide 1 - School of Medicine - LSU Health Sciences Center - New ...
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Slide 1 - School of Medicine - LSU Health Sciences Center - New ...

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  • 1. November 25, 2008 Neurology Board Review
  • 2. Neurocutaneous Syndromes
  • 3. Neurofibromatosis 1 <ul><li>AKA Von Recklinghausen Disease </li></ul><ul><li>1/3000 individuals </li></ul><ul><li>Autosomal Dominant </li></ul><ul><ul><li>50% sporadic </li></ul></ul><ul><li>Chromosome 17q </li></ul><ul><ul><li>Neurofibromin – tumor supressor </li></ul></ul>
  • 4. Diagnostic Criteria NF 1 <ul><li>At least 2 of the following: </li></ul><ul><li>Café au Lait Macules – 6 or more </li></ul><ul><ul><li>>5 mm in prepubertal children </li></ul></ul><ul><ul><li>>15 mm in post pubertal children </li></ul></ul><ul><li>2 or more neurofibromas of any type, or one plexiform neurofibroma </li></ul><ul><li>Axillary or inguinal freckling </li></ul><ul><li>Optic glioma </li></ul><ul><li>2 or more Lisch nodules </li></ul><ul><li>First degree relative with NF1 </li></ul><ul><li>Osseous lesion (sphenoid dysplasia, thinning of long bone cortex) </li></ul>
  • 5. Café au Lait Macules <ul><li>Brown hyperpigmented macules with smooth margins </li></ul>
  • 6. Lisch Nodules <ul><li>Hamartomas of the iris </li></ul>
  • 7. Skeletal Abnormalities <ul><li>Short stature </li></ul><ul><li>Macrocephaly </li></ul><ul><li>Severe angular scoliosis with dysplasia of the vertebral bodies </li></ul><ul><li>Defects of posterior-superior wall of the orbit </li></ul><ul><li>Congenital bowing and thinnning of long bone cortex </li></ul><ul><li>Pseudoarthrosis of the tibia, fibula, femur, clavicle </li></ul><ul><li>Disorders of bone growth </li></ul><ul><li>Erosive bony defects by neurogenic tumor </li></ul><ul><li>Scalloping of posterior margins of vertebral bodies </li></ul>
  • 8. Skeletal Abnormalities
  • 9. NF 1 <ul><li>Tumors </li></ul><ul><ul><li>Very common </li></ul></ul><ul><ul><li>Optic glioma 15% </li></ul></ul><ul><ul><li>Ependymomas, meningiomas, astrocytomas </li></ul></ul><ul><li>Intelligence </li></ul><ul><ul><li>MR is rare </li></ul></ul><ul><ul><li>Learning disabilities </li></ul></ul><ul><ul><li>Behavior problems </li></ul></ul>
  • 10. Neurofibromatosis 2 <ul><li>Autosomal Dominant </li></ul><ul><li>95% penetrance </li></ul><ul><li>1/50,000 </li></ul><ul><li>Chromosome 22 </li></ul><ul><ul><li>Merlin or Schwannomin – tumor suppressors </li></ul></ul><ul><li>Symptoms in teens/twenties </li></ul><ul><ul><li>Hearing loss, tinnitus, unsteadiness, facial weakness </li></ul></ul>
  • 11. Diagnostic Criteria for NF 2 <ul><li>Bilateral 8 th nerve masses seen with imaging OR </li></ul><ul><li>First degree relative with NF 2 and unilateral 8 th nerve mass OR 2 of the following </li></ul><ul><ul><li>Neurofibroma </li></ul></ul><ul><ul><li>Meningioma </li></ul></ul><ul><ul><li>Glioma </li></ul></ul><ul><ul><li>Schwannoma </li></ul></ul><ul><ul><li>Juvenile posterior subcapsular lens opacity </li></ul></ul>
  • 12. Tuberous Sclerosis <ul><li>Autosomal Dominant </li></ul><ul><li>80% have seizures </li></ul><ul><ul><li>Infantile spasms </li></ul></ul><ul><li>TSC1 on Chromosome 9 q </li></ul><ul><ul><li>Hamartin – tumor suppressor </li></ul></ul><ul><li>TSC2 on Chromosome 16q </li></ul><ul><ul><li>Tuberin – tumor suppressor </li></ul></ul><ul><li>1/6000-9000 have gene </li></ul><ul><ul><li>1/150,000 - full expression of gene </li></ul></ul><ul><ul><li>Carriers usually only have Ash-leaf macule </li></ul></ul>
  • 13. Major Features <ul><li>Facial angiofibromas (adenoma sebaceum) </li></ul><ul><li>Nontraumatic ungual fibroma </li></ul><ul><li>Hypomelanotic macules (Ash leaf spots) </li></ul><ul><li>Shagreen patch (connective tissue nevus) </li></ul><ul><li>Multiple retinal nodular hamartomas </li></ul><ul><li>Cortical tuber </li></ul><ul><li>Subependymal nodule </li></ul><ul><li>Subependymal giant cell astrocytoma </li></ul><ul><li>Cardiac rhabdomyoma </li></ul><ul><li>Renal angiomyolipoma </li></ul><ul><li>Lymphangiomyomatosis </li></ul>
  • 14. Minor Features <ul><li>Multiple randomly distributed pits in dental enamel </li></ul><ul><li>Hamartomatous rectal polyps </li></ul><ul><li>Bone cysts </li></ul><ul><li>Cerebral white matter radial migration lines </li></ul><ul><li>Gingival fibromas </li></ul><ul><li>Nonrenal hamartoma </li></ul><ul><li>Retinal achromatic patch </li></ul><ul><li>“ confetti” skin lesions </li></ul><ul><li>Multiple renal cysts </li></ul>
  • 15. Diagnostic Criteria for Tuberous Sclerosis <ul><li>Definite </li></ul><ul><ul><li>2 Major Features </li></ul></ul><ul><ul><li>1 Major and 2 Minor Features </li></ul></ul><ul><li>Probable </li></ul><ul><ul><li>One Major + One Minor Feature </li></ul></ul><ul><li>Possible </li></ul><ul><ul><li>One Major Feature </li></ul></ul><ul><ul><li>2 or more Minor Features </li></ul></ul>
  • 16. Sturge – Weber Syndrome <ul><li>Vascular Malformation over the face covering ophthalmic cutaneous distribution of CN V </li></ul><ul><ul><li>Port wine stain to forehead and upper eyelid </li></ul></ul><ul><ul><li>Pink – purple and present at birth </li></ul></ul>
  • 17. Sturge – Weber Syndrome <ul><li>Ipsilateral leptomeningeal angiomatosis with intracranial calcifications </li></ul><ul><ul><li>Seen on CT scan (though often normal at birth) </li></ul></ul><ul><ul><li>Seizures in 90% </li></ul></ul>
  • 18. Sturge – Weber Syndrome <ul><li>High incidence of mental retardation </li></ul><ul><ul><li>Cognitive and behavioral problems </li></ul></ul><ul><li>Ipsilateral ocular complications </li></ul><ul><ul><li>Buphthalmos – corneal enlargement </li></ul></ul><ul><ul><li>Colobloma </li></ul></ul><ul><ul><li>Glaucoma </li></ul></ul>
  • 19. Klippel-Trenaunay Syndrome <ul><li>Port-wine stain over lateral aspect of the leg (arm) </li></ul><ul><ul><li>Bilateral is rare </li></ul></ul><ul><li>Underlying vascular lesion increases blood supply  hemihypertrophy and lymphedema </li></ul>
  • 20. Ataxia - Telangiectasia <ul><li>Autosomal Recessive </li></ul><ul><li>Degenerative </li></ul><ul><li>Ataxia – cerebellar degeneration </li></ul><ul><li>Oculocutaneous Telangiectasia – seen by age 6 </li></ul><ul><li>Immunodeficiency </li></ul><ul><ul><li>Deficient cellular immunity , low IgA and IgM </li></ul></ul><ul><ul><li>Recurrent sinopulmonary infections </li></ul></ul><ul><li>Neoplasia </li></ul><ul><ul><li>ALL or lymphoma </li></ul></ul>
  • 21. Ataxia <ul><li>Stereotypic Progression </li></ul><ul><li>Infant – tremors of head </li></ul><ul><li>Toddler- unsteady gait </li></ul><ul><li>School age child – global ataxia and scanning, slurred, dysarthric speech </li></ul><ul><li>By 10 yo – loss of deep tendon reflexes, impared position and vibratory sense </li></ul><ul><li>Adolescence – choreoathetosis, dystonic posturing, gaze apraxia, progressive dementia </li></ul>
  • 22. Linear Sebaceous Nevus <ul><li>Present at birth </li></ul><ul><ul><li>Can be anywhere </li></ul></ul><ul><li>Yellow – tan waxy linear lesion </li></ul><ul><ul><li>Excess of pappillomatous sebaceous glands </li></ul></ul><ul><ul><li>15-20% risk of malignant degeneration </li></ul></ul><ul><li>Association with seizure and mental retardation </li></ul>
  • 23. CNS Malformations
  • 24. Macrocephaly <ul><li>> 2 standard deviations above the mean head circumference for age, gender, gestation </li></ul><ul><li>Causes </li></ul><ul><ul><li>Hydrocephalus </li></ul></ul><ul><ul><li>Intracranial mass </li></ul></ul><ul><ul><li>Thickening of the skull </li></ul></ul><ul><ul><li>Megalencephaly – increased brain substance </li></ul></ul>
  • 25. <ul><li>Evaluation </li></ul><ul><ul><li>Series of measurements of head circumference </li></ul></ul><ul><ul><li>Measurement of parental head circumference </li></ul></ul><ul><ul><li>Developmental history </li></ul></ul><ul><ul><li>Family history </li></ul></ul><ul><ul><li>CT or MRI- assessment of ventricular size, intracranial masses, chronic subdural effusions, calcifications, blood </li></ul></ul>
  • 26. Hydrocephalus <ul><li>Imbalance between CSF production and resorption that results in a significant net accumulation of fluid in the ventricular system </li></ul><ul><li>Choroid plexus papilloma – CSF overproduction </li></ul><ul><li>Non-communicating Hydrocephalus </li></ul><ul><ul><li>Obstruction of CSF pathways within the ventricular system </li></ul></ul><ul><ul><li>Aqueductal Stenosis, tumors of posterior fossa, other congenital malformations </li></ul></ul><ul><li>Communicating Hydrocephalus </li></ul><ul><ul><li>Obstruction of CSF pathways in the subarachnoid space </li></ul></ul><ul><ul><li>Intracranial hemorrhage, meningitis </li></ul></ul>
  • 27. Clinical Manifestations of Hydrocephalus <ul><li>Excessively large head at birth OR rapidly growing </li></ul><ul><li>Forehead is disproportionately large </li></ul><ul><li>Face appears small </li></ul><ul><li>Scalp is thin with distended veins </li></ul><ul><li>Anterior fontanelle - large and tense </li></ul><ul><li>Sutures split </li></ul><ul><li>Ocular findings </li></ul><ul><ul><li>Impaired upward gaze </li></ul></ul><ul><ul><ul><li>Sunsetting sign </li></ul></ul></ul><ul><ul><li>Divergent strabismus </li></ul></ul><ul><ul><li>Abducens nerve paresis </li></ul></ul>
  • 28. Hydrocephalus
  • 29. Dandy-Walker Malformation <ul><li>Progressive cystic enlargement of the fourth ventricle </li></ul><ul><li>Enlarged posterior fossa </li></ul><ul><li>Upward displacement of the tentorium and transverse sinuses </li></ul><ul><li>Hydrocephalus – universal </li></ul><ul><li>60% with increased ICP by age 2 </li></ul><ul><li>Bulging occiput, posterior fossa cyst </li></ul><ul><li>Ataxia, nystagmus, cranial nerve deficits </li></ul>
  • 30. Dandy-Walker Malformation
  • 31. Hydrancephaly <ul><li>Characteristics </li></ul><ul><ul><li>Absence of cerebral hemispheres </li></ul></ul><ul><ul><li>Intact meninges </li></ul></ul><ul><ul><li>Normal skull </li></ul></ul><ul><li>Appear normal at birth </li></ul><ul><li>First few weeks </li></ul><ul><ul><li>Developmental arrest, hypertonia, hyperreflexic </li></ul></ul><ul><ul><li>Seizures </li></ul></ul><ul><li>Die between 6-12 months </li></ul>
  • 32. Hydrancephaly Pictures
  • 33. Microcephaly <ul><li>Head circumference more than 2 standard deviations less than the mean for gender, age, gestation </li></ul><ul><li>Neurologic manifestations </li></ul><ul><ul><li>Minor </li></ul></ul><ul><ul><ul><li>Motor skills, mild MR </li></ul></ul></ul><ul><ul><li>Major </li></ul></ul><ul><ul><ul><li>Vegetative state </li></ul></ul></ul><ul><li>Diagnostic evaluation </li></ul><ul><ul><li>Family, prenatal history </li></ul></ul><ul><ul><li>Karyotype </li></ul></ul><ul><ul><li>Inborn error of metabolism </li></ul></ul><ul><ul><li>Serologic studies for TORCH infections </li></ul></ul><ul><ul><li>Imaging </li></ul></ul>
  • 34. Causes of Microcephaly <ul><li>Genetic defects </li></ul><ul><ul><li>Trisomies </li></ul></ul><ul><ul><li>Deletions </li></ul></ul><ul><ul><li>Translocations </li></ul></ul><ul><li>Antenatal Irradiation </li></ul><ul><li>Intrauterine infections </li></ul><ul><ul><li>Rubella </li></ul></ul><ul><ul><li>CMV </li></ul></ul><ul><ul><li>Toxoplasmosis </li></ul></ul><ul><ul><li>Congenital syphilis </li></ul></ul><ul><ul><li>HSV </li></ul></ul><ul><li>Exposure to drugs or chemicals during gestation </li></ul><ul><ul><li>Fetal alcohol syndrome </li></ul></ul><ul><ul><li>Phenytoin exposure </li></ul></ul><ul><ul><li>Trimethadione exposure </li></ul></ul><ul><ul><li>Methyl mercury exposure </li></ul></ul><ul><li>Maternal PKU </li></ul><ul><li>Perinatal Insults </li></ul><ul><ul><li>Trauma </li></ul></ul><ul><ul><li>Anoxic </li></ul></ul><ul><ul><li>Metabolic </li></ul></ul><ul><ul><li>infectious </li></ul></ul>
  • 35. Microcephaly
  • 36. Midline Defects/ Occult Spinal Dysraphism <ul><li>Midline spinal cord and vertebral skeletal defects </li></ul><ul><ul><li>Encephalocele </li></ul></ul><ul><ul><li>Defective closure of caudal portion of neural tube </li></ul></ul><ul><ul><ul><li>Myelomeningocele  spina bifida occulta </li></ul></ul></ul><ul><li>Occult Spinal Dysraphism </li></ul><ul><ul><li>Cutaneous/subcutaneous defects </li></ul></ul><ul><ul><ul><li>Hairy patch </li></ul></ul></ul><ul><ul><ul><li>Lipoma </li></ul></ul></ul><ul><ul><ul><li>Skin tag </li></ul></ul></ul><ul><ul><ul><li>Port-wine stain </li></ul></ul></ul><ul><ul><ul><li>Hemangioma </li></ul></ul></ul><ul><ul><ul><li>Sacral dimples </li></ul></ul></ul>
  • 37. Radiologic Screening for Cutaneous Stigmata <ul><li>Ultrasound </li></ul><ul><ul><li>Vertebrae do not ossify until 3 months </li></ul></ul><ul><ul><li>Can assess cord motion </li></ul></ul><ul><li>MRI </li></ul><ul><li>Neurosurgery referral </li></ul><ul><ul><li>Early intervention can prevent progression of defects </li></ul></ul>
  • 38. Clinical Symptoms <ul><li>Symptom-free interval </li></ul><ul><li>3 years- school age (periods of rapid growth) </li></ul><ul><li>Leg stiffness </li></ul><ul><li>Clumsiness </li></ul><ul><li>Weakness/numbness </li></ul><ul><li>Bowel/bladder dysfunction </li></ul><ul><li>Physical exam </li></ul><ul><ul><li>Decreased tone </li></ul></ul><ul><ul><li>Decreased reflexes </li></ul></ul><ul><ul><li>Decreased sensation </li></ul></ul><ul><ul><li>Foot deformities </li></ul></ul>
  • 39. Pictures

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