Phakomatoses

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Phakomatoses

  1. 1. PHAKOMATOSES Dr / Hytham Nafady
  2. 2. Definition Definition Phakos, oma, osis. Van der Hoeve in 1921 Neuro-cutaneous syndromes. Exception Sturge Weber syndrome (no neoplastic component) Von Hippel Lindau disease (no cutaneous manifestation) Yakovlev and Guthrie in 1931 Dysplasia & / or TS & NF neoplasms of tissues of (have endodermal & ectodermal origin mesodermal lesions). Yakovlev and Guthrie in 1931
  3. 3. COMMON 1. 2. 3. 4. 5. NF1 NF2 Tuberous sclerosis Sturge-Weber Syndrome Von Hipple Lindau disease UNCOMMON 1. 2. 3. 4. 5. 6. Proteus syndrome, Osler-Weber-Rendu disease, Klipple trenaunay. Ataxia telangiectasia, Meningio-angiomatosis, Incontentia pigmenti.
  4. 4. Tuberous sclerosis Etiology: • 50 % autosomal dominant inheritence. • 50 % spontaneous mutation. • Defects in chromosomes 9 & 11.
  5. 5. Tuberous sclerosis C.P Tuberous sclerosis Seizures Adenoma sebaceum Mental retardation
  6. 6. Zits Fits Nitwits
  7. 7. Cutaneous lesions of tuberous sclerosis • Adenoma sebaceum.
  8. 8. Cutaneous lesions of tuberous sclerosis • Adenoma sebaceum. • Ash leaf spots.
  9. 9. Cutaneous lesions of tuberous sclerosis • Adenoma sebaceum. • Ash leaf spots. • Shagreen patch.
  10. 10. Cutaneous lesions of tuberous sclerosis • • • • Adenoma sebaceum. Ash leaf spots. Shagreen patch. Confetti lesions.
  11. 11. Cutaneous lesions of tuberous sclerosis • • • • • Adenoma sebaceum. Ash leaf spots. Shagreen patch. Confetti lesions. Periangual fibromas
  12. 12. Adenoma sebaceum Facial angiofibromas • Small erythematous papules
  13. 13. Ash leaf spots • Hypo-pigmentd macule ‫الدردار‬
  14. 14. Shagreen patch
  15. 15. Confetti lesions
  16. 16. Periangual fibroma
  17. 17. CNS lesions of tuberous sclerosis • Cortical tubers.
  18. 18. CNS lesions of tuberous sclerosis • Cortical tubers. • White matte lesions.
  19. 19. CNS lesions of tuberous sclerosis • Cortical tubers. • White matte lesions. • Subependymal nodules.
  20. 20. CNS lesions of tuberous sclerosis • • • • Cortical tubers. White matte lesions. Subependymal nodules. SGCA.
  21. 21. Subependymal nodules Location: • Caudothalamic groove of lateral ventricle.
  22. 22. Subependymal nodules Location: • Caudothalamic groove of lateral ventricle.
  23. 23. Subependymal nodules Location: • Caudothalamic groove of lateral ventricle.
  24. 24. Subependymal nodules Location: • Caudothalamic groove of lateral ventricle. What are the lesions that involve caudothalamic groove?
  25. 25. Subependymal nodules Location: • Caudothalamic groove of lateral ventricle • atrium. • Temporal horn • Occipital horn. • (very rare in 3rd of 4th ventricle). • 88% calcified. • Enhancement is variable
  26. 26. Subependymal nodules Location: • Caudothalamic groove of lateral ventricle • atrium. • Temporal horn • Occipital horn. • (very rare in 3rd of 4th ventricle). • 88% calcified. • Enhancement is variable
  27. 27. Subependymal nodules Location: • Caudothalamic groove of lateral ventricle • atrium. • Temporal horn • Occipital horn. • (very rare in 3rd of 4th ventricle). • 88% calcified. • Enhancement is variable
  28. 28. Cortical tubers Location: • Frontal • Parietal. • Temporal. • Cerebellar. 5% may enhance. 50% become calcified by the age of 10 years.
  29. 29. White matter lesions Location: • Along lines of neuronal migration
  30. 30. SGCA • Enlarging enhancing nodule at the foramen of Monro.
  31. 31. SGCA • Enlarging enhancing nodule at the foramen of Monro.
  32. 32. DD of tuberous sclerosis DD of subependymal nodules Non clacified Subependymal heterotopia Calcified TORCH DD of cortical tubers Focal cortical dysplasia DD of SGCA Foramen of Monro masses
  33. 33. DD of subpendymal nodules Subependymal nodules Subependymal hetertopia Rounded or oval with their Oval with their long axis long axis perpendicular the parallel to the ventricular ventricular wall. wall. Variable. Iso-intense to grey matter on all pulse sequences May be calcified. May be enhancing. Never calcified. No enhancement
  34. 34. Subependymal nodules Subependymal heterotopia
  35. 35. CMV TS
  36. 36. CMV TS
  37. 37. ?
  38. 38. ?
  39. 39. ?
  40. 40. ?
  41. 41. ?
  42. 42. ?
  43. 43. ?
  44. 44. ?
  45. 45. Subependymal heterotopia
  46. 46. DD of cortical tubers • Focal cortical dysplasia (Taylor dysplasia)
  47. 47. DD of cortical tubers • Focal cortical dysplasia (Taylor dysplasia)
  48. 48. DD of cortical tubers • Focal cortical dysplasia (Taylor dysplasia)
  49. 49. DD of cortical tubers • Focal cortical dysplasia (Taylor dysplasia)
  50. 50. DD of cortical tubers • Focal cortical dysplasia (Taylor dysplasia)
  51. 51. DD of cortical tubers • Focal cortical dysplasia (Taylor dysplasia)
  52. 52. DD of cortical tubers • Focal cortical dysplasia (Taylor dysplasia)
  53. 53. DD of SGCA
  54. 54. Renal angiomyolipoma
  55. 55. AML
  56. 56. Ruptured renal AML
  57. 57. Ruptured renal AML
  58. 58. Retroperitoneal LAM
  59. 59. Intestinal polyposis AML
  60. 60. Pulmonary Lymphangioleiomyomatosis (LAM)
  61. 61. Retroperitoneal hemorrhage
  62. 62. Cardiac rhabdomyomas • Multiple hyperechoic masses
  63. 63. Multiple sclerotic lesoins
  64. 64. Neurofibromatosis Autosomal dominant NF1..Ch 17, NF 2…..Ch 22 NF 1 presents in children & NF2 at a later age. NF1 (peripheral NF) NF2 (central NF)
  65. 65. Nerve sheath tumors
  66. 66. Schwannoma Neurofibroma
  67. 67. Resection of Schwannoma
  68. 68. Biopsy of plexiform neurofibroma of peripheral nerve for suspecion of malignant transformation
  69. 69. Signs of nerve sheath tumor • • • • • • Fusiform. Entering & exiting nerve. Split fat sign. Target sign. Fascicular sign Associated muscle atrophy.
  70. 70. Neurofibroma
  71. 71. Schwannoma
  72. 72. NF Types of neurofibroma • Localized (involve a short segment). • Plexiform (involve a long segment & its branches). • Diffuse (infiltrate subcutaneous fat). • A short segment means (a nerve can be traced entering & exiting from the mass). • A long segment means ( a nerve can not be traced entering or exiting from the mass).
  73. 73. Diffuse neurofibroma
  74. 74. Teenage female with NF1 & enlarging pigmented skin lesions
  75. 75. Plexiform neurofibroma
  76. 76. Localized neurofibroma
  77. 77. MPNST • • • • Unexplained pain. Unexpected growth. Irregular borders. Heterogeneous signal
  78. 78. NF1 • • • • Von Recklinghausen disease This is the most common phakomatosis. 50% autosomal dominant inheritence. 50% new mutation
  79. 79. Diagnostic criteria of NF1 Two of the following must be present to diagnose as NF1: • 6 or more cafe-au-lait macules . • 2 or more neurofibromas of any type or 1 plexiform neurofibroma, • freckling in the axillary or inguinal regions • optic glioma, • 2 or more Lisch nodules, • distinctive bony lesion (i.e. sphenoid dysplasia, thinning of long bone cortex with or without pseudoarthrosis), • a first degree relative diagnosed with NF1.
  80. 80. Cutaneuos manifestations of NF • • • • • Café au lait spots. Lisch nodules. Plexiform neurofibromas. Axillary freckling. Molloscum fibrosum.
  81. 81. Café au lait spots
  82. 82. Lisch nodules • Melanocytic hamartoma of the iris.
  83. 83. Plexiform neurofibroma
  84. 84. Axillary freckling
  85. 85. Molluscum fibrosum
  86. 86. Neurological NF1 • Hamartomas. • Gliomas: – – – – Optic glioma. Pilocytic astrocytoma. Diffuse brain stem glioma. Spinal astrocytoma • Dural calcification at vertex • Dural ectasia • Buphthalmos.
  87. 87. Hamartomas
  88. 88. Optic pathway glioma
  89. 89. Optic pathway glioma
  90. 90. Diffuse brain stem glioma
  91. 91. Pilocytic astrocytoma
  92. 92. NF1 Hamartoma vs glioma
  93. 93. Chest • Mediastinal masses: – Neurofibroma. – Lateral thoracic meningocele : typically on convex side of scoliosis (through widened neural formina) – extra adrenal pheochromcytoma. • Lung parenchymal disease : ~ 20% – Diffuse interstitial fibrosis: lower zone – Bullae formation : upper zone
  94. 94. Lateral thoracic meningocele
  95. 95. Lateral thoracic meningocele
  96. 96. Vascular • • • • Moya Moya phenomenon. Aneurysms / AVMs Renal artery stenosis. Coarctation of the aorta.
  97. 97. Skeletal NF1 • • • • • • • • • • Sphenoid wing dysplasia Lambdoid suture defects. Enlarged neural foramina. Kyphoscoliosis. Posterior vertebral scalloping. Hypoplastic posterior elements Ribbon rib deformity. Rib notching. Tibial or ulnar pseudoarthrosis Limb hemihypertrophy.
  98. 98. Sphenoid wing dysplasia
  99. 99. Bare orbit sign
  100. 100. Bare orbit sign
  101. 101. Bare orbit sign
  102. 102. Lambdoid suture defect
  103. 103. Vertebral scalloping
  104. 104. Dural ectasia & posterior vertebral scalloping
  105. 105. DD of posterior vertebral scalloping
  106. 106. Posterior vertebral scalloping due to small spinal canal Posterior vertebral scalloping due to dural ectasia
  107. 107. Ribbon ribs
  108. 108. Tibial pseudoarthrosis • Anterior bowing of the tibia with: 1.Preserved medullary canal. 2.Thinned medullary canal & cortical thickening. 3.Intramedullary cyst. 4.Frank pseudoarthrosis.
  109. 109. NF2 • Intracranial Schwannomas. • Intracranial & spinal meningiomas. • Spinal intramedullary ependymomas.
  110. 110. Diagnostic Criteria for NF-2 • Definite NF2 Bilateral vestibular schwannomas (VS) • Probable NF2: Family history of NF2 (first degree family relative) + Unilateral VS or any two of the following: – Meningioma, – Glioma, – Schwannoma, – Juvenile posterior subcapsular lenticular opacity, – Juvenile cortical cataract
  111. 111. NF 2 Bilateral vestibular Schwannoma Multiple Meningiomas
  112. 112. Right CP angle meningioma Left CP angle schwannoma
  113. 113. CP angle Meningioma CP angle Schwannoma Intra-canalicular extension, with widening of the internal auditory .canal Wide dural base Centered upon the porus .acousticus Obtuse angle along the anterior & posterior borders Acute angle along the anterior & posterior borders .Dural tail enhancement Hyperostosis .Microhemorrhage on T2* Wis
  114. 114. NF2
  115. 115. Sturge Weber syndrome encephalotrigeminal angiomatosis • Congenital non hereditary disorder. • Failure of normal development of fetal cortical veins.
  116. 116. Port wine stain (Portuguese wine)
  117. 117. Sturge Weber syndrome
  118. 118. Von Hippel Lindau disease • Autosomal dominant inheritence 80%. • New mutation 20%. • Defect in chromosome 3.
  119. 119. Von Hipple Lindau disease
  120. 120. Von Hipple Lindau disease
  121. 121. • ~ 45% of those with vHL develop haemangioblastomas • ~ 20% of those with haemangioblastoma have vHL
  122. 122. Hemangioblastoma Age: young adults Tumor nodule: show vascular flow voids Pilocytic astrocytoma Age: children Tumor nodule: lack vascular flow voids Tumor nodule abuts Tumor nodule often the pial or ependymal doesn’t abut pial or surface ependymal surface.
  123. 123. Endolymphatic sac
  124. 124. Thank You for your attention hytham_nafady@hotmail.com

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