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Phakomatoses
1. Phakomatoses are neurocutaneous syndromes characterized by dysplasia and/or neoplasms of tissues of ectodermal and mesodermal origin. The common phakomatoses are neurofibromatosis type 1, neurofibromatosis type 2, tuberous sclerosis, Sturge-Weber syndrome, and Von Hippel-Lindau disease. 2. Tuberous sclerosis is characterized by seizures, mental retardation, adenoma sebaceum, cortical tubers, subependymal nodules, and angiofibromas. It has both autosomal dominant and spontaneous mutations in chromosomes 9 and 11. 3. Neurofibrom
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Phakomatoses
- 1. PHAKOMATOSES Dr / HythamNafady
- 2. Definition Definition Phakos, oma, osis. Vander 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. COMMON 1. 2. 3. 4. 5. NF1 NF2 Tuberous sclerosis Sturge-Weber Syndrome VonHipple Lindau disease UNCOMMON 1. 2. 3. 4. 5. 6. Proteus syndrome, Osler-Weber-Rendu disease, Klipple trenaunay. Ataxia telangiectasia, Meningio-angiomatosis, Incontentia pigmenti.
- 4. Tuberous sclerosis Etiology: • 50% autosomal dominant inheritence. • 50 % spontaneous mutation. • Defects in chromosomes 9 & 11.
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- 12. Cutaneous lesions of tuberoussclerosis • Adenoma sebaceum.
- 13. Cutaneous lesions of tuberoussclerosis • Adenoma sebaceum. • Ash leaf spots.
- 14. Cutaneous lesions of tuberoussclerosis • Adenoma sebaceum. • Ash leaf spots. • Shagreen patch.
- 15. Cutaneous lesions of tuberoussclerosis • • • • Adenoma sebaceum. Ash leaf spots. Shagreen patch. Confetti lesions.
- 16. Cutaneous lesions of tuberoussclerosis • • • • • Adenoma sebaceum. Ash leaf spots. Shagreen patch. Confetti lesions. Periangual fibromas
- 17. Adenoma sebaceum Facial angiofibromas •Small erythematous papules
- 18. Ash leaf spots •Hypo-pigmentd macule الدردار
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- 22. CNS lesions oftuberous sclerosis • Cortical tubers.
- 23. CNS lesions oftuberous sclerosis • Cortical tubers. • White matte lesions.
- 24. CNS lesions oftuberous sclerosis • Cortical tubers. • White matte lesions. • Subependymal nodules.
- 25. CNS lesions oftuberous sclerosis • • • • Cortical tubers. White matte lesions. Subependymal nodules. SGCA.
- 26. Subependymal nodules Location: • Caudothalamicgroove of lateral ventricle.
- 27. Subependymal nodules Location: • Caudothalamicgroove of lateral ventricle.
- 28. Subependymal nodules Location: • Caudothalamicgroove of lateral ventricle.
- 29. Subependymal nodules Location: • Caudothalamicgroove of lateral ventricle. What are the lesions that involve caudothalamic groove?
- 30. Subependymal nodules Location: • Caudothalamicgroove of lateral ventricle • atrium. • Temporal horn • Occipital horn. • (very rare in 3rd of 4th ventricle). • 88% calcified. • Enhancement is variable
- 31. Subependymal nodules Location: • Caudothalamicgroove of lateral ventricle • atrium. • Temporal horn • Occipital horn. • (very rare in 3rd of 4th ventricle). • 88% calcified. • Enhancement is variable
- 32. Subependymal nodules Location: • Caudothalamicgroove of lateral ventricle • atrium. • Temporal horn • Occipital horn. • (very rare in 3rd of 4th ventricle). • 88% calcified. • Enhancement is variable
- 33. Cortical tubers Location: • Frontal •Parietal. • Temporal. • Cerebellar. 5% may enhance. 50% become calcified by the age of 10 years.
- 34. White matter lesions Location: •Along lines of neuronal migration
- 35. SGCA • Enlarging enhancingnodule at the foramen of Monro.
- 36. SGCA • Enlarging enhancingnodule at the foramen of Monro.
- 40. DD of tuberoussclerosis DD of subependymal nodules Non clacified Subependymal heterotopia Calcified TORCH DD of cortical tubers Focal cortical dysplasia DD of SGCA Foramen of Monro masses
- 41. DD of subpendymalnodules 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
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- 54. DD of corticaltubers • Focal cortical dysplasia (Taylor dysplasia)
- 55. DD of corticaltubers • Focal cortical dysplasia (Taylor dysplasia)
- 56. DD of corticaltubers • Focal cortical dysplasia (Taylor dysplasia)
- 57. DD of corticaltubers • Focal cortical dysplasia (Taylor dysplasia)
- 58. DD of corticaltubers • Focal cortical dysplasia (Taylor dysplasia)
- 59. DD of corticaltubers • Focal cortical dysplasia (Taylor dysplasia)
- 60. DD of corticaltubers • Focal cortical dysplasia (Taylor dysplasia)
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- 73. Cardiac rhabdomyomas • Multiplehyperechoic masses
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- 75. 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)
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- 82. Biopsy of plexiformneurofibroma of peripheral nerve for suspecion of malignant transformation
- 83. Signs of nervesheath tumor • • • • • • Fusiform. Entering & exiting nerve. Split fat sign. Target sign. Fascicular sign Associated muscle atrophy.
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- 87. 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).
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- 89. Teenage female withNF1 & enlarging pigmented skin lesions
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- 92. MPNST • • • • Unexplained pain. Unexpected growth. Irregularborders. Heterogeneous signal
- 100. NF1 • • • • Von Recklinghausen disease Thisis the most common phakomatosis. 50% autosomal dominant inheritence. 50% new mutation
- 106. Diagnostic criteria ofNF1 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.
- 107. Cutaneuos manifestations ofNF • • • • • Café au lait spots. Lisch nodules. Plexiform neurofibromas. Axillary freckling. Molloscum fibrosum.
- 108. Café au laitspots
- 109. Lisch nodules • Melanocytichamartoma of the iris.
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- 113. Neurological NF1 • Hamartomas. •Gliomas: – – – – Optic glioma. Pilocytic astrocytoma. Diffuse brain stem glioma. Spinal astrocytoma • Dural calcification at vertex • Dural ectasia • Buphthalmos.
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- 117. Diffuse brain stemglioma
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- 120. 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
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- 123. Vascular • • • • Moya Moya phenomenon. Aneurysms/ AVMs Renal artery stenosis. Coarctation of the aorta.
- 124. Skeletal NF1 • • • • • • • • • • Sphenoid wingdysplasia Lambdoid suture defects. Enlarged neural foramina. Kyphoscoliosis. Posterior vertebral scalloping. Hypoplastic posterior elements Ribbon rib deformity. Rib notching. Tibial or ulnar pseudoarthrosis Limb hemihypertrophy.
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- 140. Dural ectasia &posterior vertebral scalloping
- 141. DD of posterior vertebralscalloping
- 142. Posterior vertebral scalloping dueto small spinal canal Posterior vertebral scalloping due to dural ectasia
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- 144. Tibial pseudoarthrosis • Anteriorbowing of the tibia with: 1.Preserved medullary canal. 2.Thinned medullary canal & cortical thickening. 3.Intramedullary cyst. 4.Frank pseudoarthrosis.
- 146. NF2 • Intracranial Schwannomas. •Intracranial & spinal meningiomas. • Spinal intramedullary ependymomas.
- 147. Diagnostic Criteria forNF-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
- 148. NF 2 Bilateral vestibularSchwannoma Multiple Meningiomas
- 149. Right CP angle meningioma LeftCP angle schwannoma
- 158. CP angle Meningioma CP angle Schwannoma Intra-canalicularextension, 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
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- 160. Sturge Weber syndrome encephalotrigeminalangiomatosis • Congenital non hereditary disorder. • Failure of normal development of fetal cortical veins.
- 161. Port wine stain(Portuguese wine)
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- 164. Von Hippel Lindaudisease • Autosomal dominant inheritence 80%. • New mutation 20%. • Defect in chromosome 3.
- 166. Von Hipple Lindaudisease
- 167. Von Hipple Lindaudisease
- 168. • ~ 45%of those with vHL develop haemangioblastomas • ~ 20% of those with haemangioblastoma have vHL
- 178. Hemangioblastoma Age: young adults Tumornodule: 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.
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- 195. Thank You foryour attention [email protected]