IMAGING OF   NEUROCUTANEOUS      SYNDROME      Moderators: Prof. (HOD) R .K. GOGOIPRESENTATION BY-CHARUSMITA CHAUDHARY
INTRODUCTION
INTRODUCTION
INTRODUCTIONPhakomatoses (or "neurocutaneous syndromes") are multisystem disordersinherited or spontaneous mutationCom...
NEUROFIBROMATOSIS TYPE 1NF1 is the classic von Recklinghausen or "peripheral" disease.AD disorder/Spontaneous mutationM...
Diagnostic criteriaTwo or more of the following:    Six or more cafe´ au lait spots 0.5 cm or larger in prepubertal     ...
Neuroimaging FindingsCNS lesions in 15-20%      brain, spinal cord, dural, orbital, vascularHamartomatous and neoplastic...
Optic Nerve GliomasAn important and often diagnostic feature of NF1Surveillance is important, because up to 80% of patie...
Plexiform neurofibromacutaneous or subcutaneous neurofibromasintraorbital and facial br of CN III - VI,MC affects CN V...
SKELETAL MANIFESTATIONS :      MOST COMMONLY INVOLVED AREAS-SPINE & SKULL.   1.SPINE:KYPHOSCOLIOSIS OF LOWER THORACIC SP...
 2.SKULL: -AGENESIS OR HYPOPLASIS OF POSTERIOR WALL OF ORBIT,  WINGS OF SPHENOID & ORBITAL PLATE OF FRONTAL. -OPTIC FOR...
ABSENCE OF SPHENOID WINGS
KYPHOSIS & ENLARGEMENT OF NEURALFORAMINA
HYPERTROPHIED & TWISTED RIBBONRIBS
CASE 1: Cranio-orbital-temporal Neurofibromatosis(Plexiform neurofibroma of ophthalmic division oftrigeminal nerve)       ...
Fig 2b T2WI       Fig 2c T2WI           Fig 2d T1WI-GDFig 2a T1WI                            MRI (T1WI) & 3D Volume render...
CASE2: Cutaneous Neurofibroma with Extracranial Arterio-venous malformation and Atlanto-axial dislocation # 25 year old ma...
Fig 3a T2FS sagittal     Fig 3b T2FS sagittal               Fig 3c T2 Coronal                       Sagittal and coronal M...
Fig 3d      Fig 3a                  Fig 3b                 Fig 3cMR TOF Angiography images reveal:-                       ...
Case 3 : Neurofibromas of the vagus nerve of the neck 32-years old female patient . Gradual onset of swelling , increasi...
Carotid an-giography done at Apollo hospital Delhi                                     Biopsy.excluded a tumor of carotid ...
NF-1 : MR Signal Abnormalities    - Globus pallidus  T2W bright foci w/o mass, don’t enhance  - Cerebellar peduncles, pons...
Neurofibromatosis 2 NF2 also has an AD pattern,1 in 50000 Multiple cranial nerve schwannomas are the hallmark MC in ves...
DIAGNOSTIC CRITERIA FORNEUROFIBROMATOSIS 2 (NF2)Bilateral CP angle masses (histologic proof not required)A first-degree ...
CNS lesions -100%Brain - CN VII schwannomas, multiple schwannomas of other cranial nerves,Meningiomas,Spinal cord/root...
M.I.S.M.E.M MULTIPLEI INHERITEDS SCHWANNOMAM MENINGIOMAE EPENDYMOMA
ENCEPHALOTRIGEMINAL ANGIOMATOSIS
DIAGNOSTIC CRITERIA FOR STURGE-WEBERSYNDROMESeizuresMental handicapPort-wine stain (neveus flammeus)Leptomeningeal cap...
CT and MR can reveal the secondarychanges, cerebral cortical atrophy, gyriform cerebral calcification (tram-track), com...
STURGE- WEBER SYNDROME :Port wine stain ( PWS)Facial neveus flammeusBlanches with pressureTrigeminal dermatomeV1-opthl...
PIAL ANGIOMATOSIS,MEDULLARY COLL           & CEREBRAL ATROPHY
Case II5 yr femaleComplaints of focal seizure involving right side of body ,impaired milestone , right sided weaknessCl...
Gyriform (linear, convoluted, or serpentine)calcifications  infarction, glioma, purulent meningitis,  leukemia (followin...
Dyke-Davidoff-Masson syndrome
 Dyke-Davidoff-Masson syndrome (DDMS) was initially described as changes in the skull seen on skull X-ray in patients with...
Tuberous sclerosisAD; 50% from new spontaneous mutations1 in 20,000 to 1 in 50,000nearly 40% of patients die by the age...
DIAGNOSTIC CRITERIA FOR TSCDefinite TSCTwo major features, orone major plus two minor features.Probable TSCOne major ...
DIAGNOSTIC CRITERIA FOR TSCMAJOR FEATURESHypomelanotic macules (three or more), Shagreen patchFacial angiofibromas (ade...
DIAGNOSTIC CRITERIA FOR TSC   MINOR FEATURES   Multiple pits in dental enamel   Gingival fibromas   Hamartomatous rect...
Pringle’s disease
Subungal fibroma
Cortical tubers:considered to be closely related to neurologic manifestations of TS - epilepsy, cognitive disability, and...
Subependymal Nodulesrepresent hamartomatous change.seen in 98%calcification detected in CT (88%)hyperintense on T1WI...
SGCAsproliferative astrocytes and giant cells.1.7%–26% prevalenceTypically in foramen of MonroDiffer from other cerebr...
White Matter AbnormalitiesSuperficial white matter abnormalities associated with cortical tubers, Radial white matter ba...
PULMONARY AND THORACICINVOLVEMENTlymphangioleiomyomatosis (LAM)multifocal micronodular pneumocyte hyperplasia (MMPH).ap...
round, thin-walled cysts of variable size and contour At thin-section CT, multiple tiny nodules (1–8 mm                   ...
RENAL AND RETROPERITONEALINVOLVEMENTRenal angiomyolipoma (AML),renal cysts, andRCCRenal AML in 55%–75% patients with T...
AMLsMC benign tumors of the kidney.characterized by variable amounts of abnormal vessels, immature smooth-muscle and fat...
Retroperitoneal LAMthick- or thin-walled cystic lesions.may reflect dilatation of lymph vessels due to obstruction
SKELETAL INVOLVEMENTCyst like lesions,hyperostosis of the inner table of the calvaria ,osteoblastic changes,periosteal...
VON HIPPEL-LINDAU DISEASEAD disorder linked to defect on the short arm of chromosome 3p.Prevalence is approximately 1 in...
Manifestations of VHL Disease according toPrevalence Cerebellar hemangioblastoma 44–72% Medullary hemangioblastoma 5% S...
NATIONAL INSTITUTES OF HEALTH CLASSIFICATION Type I VHL without pheochromocytoma most common type Renal and pancreatic...
DIAGNOSTIC CRITERIAMore than one CNS hemangioblastoma,One CNS hemangioblastoma + visceral manifestations of VHL disease,...
HemangioblastomaHallmark of VHLSeen in 2/3 of patients20-50 yrs of ageTypically multipleMC in cerebellumOther::::med...
Retinal angiomasare actually hemangioblastomas (40-50%)asymptomatic or cause a blind spot.may hemorrhage and can cause ...
Renal lesionsRenal cysts in 59%–63%RCC in 24%–45% either multicentric and bilateral solid hypervascular masses or comple...
Pancreatic involvementsimple pancreatic cysts (50%–91%)serous microcystic adenomasPancreatic neuroendocrine tumors (5%–...
Annual screening examinations of the abdomen, by ultrasound or CT, have been recommended for some patients with VHL
Ataxia-telangiectasiaAR disorder1 in 20,000-100,000Telangiectasias in skin (face) and eyes,cerebellar ataxiaimmunodef...
MR FINDINGSTelangiectasia of pia mater and white matterHypointense WM foci on T1- and T2-WIDiffuse symmetric increased ...
Hypointense WM foci on T1- and T2-WI
THE PHACE SYNDROMEPosterior fossa malformationsHemangiomasArterial anomaliesCoarctation of the aorta , cardiac defects...
Large facial hemangiomas may be associated with a Dandy- Walker malformation, vascular anomalies (coarctation of aorta, a...
Gorlin syndrome Diagnostic criteria A clinical diagnosis can be made using major and minor criteria.  To make the diagn...
Gorlin syndrome
ConclusionPhakomatoses are a diverse group of disordersMost common phakomatoses (excluding SWS) are AD; therefore, a cor...
THANK YOU
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
Imaging of neurocutaneous syndrome overview
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Imaging of neurocutaneous syndrome overview

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Imaging of neurocutaneous syndrome overview

  1. 1. IMAGING OF NEUROCUTANEOUS SYNDROME Moderators: Prof. (HOD) R .K. GOGOIPRESENTATION BY-CHARUSMITA CHAUDHARY
  2. 2. INTRODUCTION
  3. 3. INTRODUCTION
  4. 4. INTRODUCTIONPhakomatoses (or "neurocutaneous syndromes") are multisystem disordersinherited or spontaneous mutationCommon ectodermal originAdvances in molecular biology have been able to localize the genetic abnormality
  5. 5. NEUROFIBROMATOSIS TYPE 1NF1 is the classic von Recklinghausen or "peripheral" disease.AD disorder/Spontaneous mutationMost common, 1 in 2000 to 3000 live birthsInherited predisposition for the development of benign peripheral nerve sheath tumors (neurofibromas) true CNS neoplasms
  6. 6. Diagnostic criteriaTwo or more of the following:  Six or more cafe´ au lait spots 0.5 cm or larger in prepubertal individuals 1.5 cm or larger in postpubertal individualsone plexiform neurofibromas or 2/more neurofibromas of any typeTwo or more Lisch nodules (benign hamartomas)Freckling in the axilla or groinOptic gliomasA distinctive bony lesion Dysplasia of the sphenoid bone ,Dysplasia or thinning of long bone cortexFirst degree relative with NF1
  7. 7. Neuroimaging FindingsCNS lesions in 15-20% brain, spinal cord, dural, orbital, vascularHamartomatous and neoplastic lesionsMultifocal T2 hyperintense signal changes in 80% of patientsOptic nerve(5-15%) and non optic glioma(low grade astrocytoma)Plexiform Neurofibromas in the head and neck(1/3rd of patients)-diagnostic
  8. 8. Optic Nerve GliomasAn important and often diagnostic feature of NF1Surveillance is important, because up to 80% of patients with ONGs are asymptomaticB/L ONGs is considered specific for NF1Primary findings of ONG includeabnormal optic nerve thickeningbeading and elongationabnormal enhancement
  9. 9. Plexiform neurofibromacutaneous or subcutaneous neurofibromasintraorbital and facial br of CN III - VI,MC affects CN VDiffuse plexiform neurofibroma of the face and eyelids,Sphenoid dysplasia is one of the "distinctive bone lesions”
  10. 10. SKELETAL MANIFESTATIONS : MOST COMMONLY INVOLVED AREAS-SPINE & SKULL. 1.SPINE:KYPHOSCOLIOSIS OF LOWER THORACIC SPINE(MOST COMMON),CERVICAL SPINE. POSTERIOR VERTEBRAL BODY SCALLOPING; POSTEROCENTRAL DUE TO DURAL ECTASIA. ECCENTRIC UNILATERAL DUE TO DUMBBELL NEUROFIBROMA. ENLARGED INTERVERTEBRAL FORAMEN PARASPINAL SOFT TISSUE. DUMBBELL NEUROFIBROMA INTRATHORACIC meningocele
  11. 11.  2.SKULL: -AGENESIS OR HYPOPLASIS OF POSTERIOR WALL OF ORBIT, WINGS OF SPHENOID & ORBITAL PLATE OF FRONTAL. -OPTIC FORAMEN ENLARGEMENT -GEOGRAPHIC BONE LESION AROUND THE LAMDOID SUTURE ALONG WITH MASTOID HYPOPLASIA. MACROCRANIUM. 3. RIB: - TWISTED RIBBON RIB– THIN IRREGULAR, SCALLOPED ATTENUATED APPEARANCE OF RIBS. 4. LONG BONES: - PSEUDOARTHOSIS. -FOCAL GIGANTISM -SUBPERIOSTEAL OR CORTICAL LUCENCIES DUE TO INTRAOSSEOUS NEUROFIBROMA. -CORTICAL PRESSURE RESORPTION DUE TO ADJACENT SOFT TISSUE
  12. 12. ABSENCE OF SPHENOID WINGS
  13. 13. KYPHOSIS & ENLARGEMENT OF NEURALFORAMINA
  14. 14. HYPERTROPHIED & TWISTED RIBBONRIBS
  15. 15. CASE 1: Cranio-orbital-temporal Neurofibromatosis(Plexiform neurofibroma of ophthalmic division oftrigeminal nerve) History :- # 15 year old female patient presented with a large painless swelling over right eyelid and face causing cosmetic deformity. Clinical examination :- # A large boggy swelling over right upper lid and temporal regions with a feeling of bag of worms on palpation. No vascular pulsation noted.
  16. 16. Fig 2b T2WI Fig 2c T2WI Fig 2d T1WI-GDFig 2a T1WI MRI (T1WI) & 3D Volume rendered CT images reveal – # Enlargement of the right middle cranial fossa with herniation of the right temporal lobe into the posterior aspect of the right orbit with a preceding anterior sleeve of CSF (fig 2a) # Hypoplasia of the greater wing of the sphenoid bone and superiorly displaced Fig 2e Fig 2f lesser wing, together giving the typical ‘Bare orbit sign’ (fig 2e)
  17. 17. CASE2: Cutaneous Neurofibroma with Extracranial Arterio-venous malformation and Atlanto-axial dislocation # 25 year old male patient presented with vertigo, tinnitus in left ear and a gradually progressing quadriparesis for 25 days. # Clinical examination revealed: 1. Multiple subcutaneous nodules with plexiform neurofibroma 2. Decreased power of all the limbs with intact sensations and bilateral extensor plantar jerks 3. Otoscopic examination, audiometry and Laboratory parameters were unremarkable.
  18. 18. Fig 3a T2FS sagittal Fig 3b T2FS sagittal Fig 3c T2 Coronal Sagittal and coronal MR images shows :- # Atlanto-axial dislocation with retropulsion of odontoid tip leading to secondary foramen magnum stenosis (fig 3a). # Dilated, Tortuous V3 segment of left vertebral artery with formation of multiple blood filled channels. (fig 3c,d). # Distended venous sac in anterior epidural space displacing the spinal cord posteriorly and to the right, causing compressive cord myelopathic changes (Fig 3b,c )Fig 3d T2 coronal
  19. 19. Fig 3d Fig 3a Fig 3b Fig 3cMR TOF Angiography images reveal:- Fig 3e# Arterio-venous malformation in posterolateral aspect of left side of neck .Feeders --- V3 segment of vertebral artery (fig 3a,b) & an anomalous artery arising from 1st part of left subclavian artery (fig 3c).Draining --- left sigmoid sinus (fig 3e) with a hugely distended venous sac in cervical canal. Fig 3f
  20. 20. Case 3 : Neurofibromas of the vagus nerve of the neck 32-years old female patient . Gradual onset of swelling , increasing on size on the right side of the neck for about few months. Clinical examination :An ill-defined, palpable lobulated lesion was observed on the left side of the neck. Café au lit spots were not detected on the skin.
  21. 21. Carotid an-giography done at Apollo hospital Delhi Biopsy.excluded a tumor of carotid wall Histological examination showed that the typical features of neu-rofibromatic tumour -spiral cells and highly collagenised stroma. Neurofibromas of the vagus nerve on the neck are extremely rare .
  22. 22. NF-1 : MR Signal Abnormalities - Globus pallidus T2W bright foci w/o mass, don’t enhance - Cerebellar peduncles, pons, midbrain - Globus pallidus , thalamus , optic radiations What in the heck are they?? - intracellular proteinous fluid? -Dysmyelination ?? T1W bright foci
  23. 23. Neurofibromatosis 2 NF2 also has an AD pattern,1 in 50000 Multiple cranial nerve schwannomas are the hallmark MC in vestibulocochlear nerve
  24. 24. DIAGNOSTIC CRITERIA FORNEUROFIBROMATOSIS 2 (NF2)Bilateral CP angle masses (histologic proof not required)A first-degree relative with NF2 and either-A unilateral CPA mass or-Any two of the following:schwannoma, meningioma, glioma, neurofibroma, or juvenile posterior subcapsular cataract
  25. 25. CNS lesions -100%Brain - CN VII schwannomas, multiple schwannomas of other cranial nerves,Meningiomas,Spinal cord/roots - Cord ependymomas, multilevel bulky schwannoma, MeningiomaSpine-Secondary changesCutaneous manifestations rare
  26. 26. M.I.S.M.E.M MULTIPLEI INHERITEDS SCHWANNOMAM MENINGIOMAE EPENDYMOMA
  27. 27. ENCEPHALOTRIGEMINAL ANGIOMATOSIS
  28. 28. DIAGNOSTIC CRITERIA FOR STURGE-WEBERSYNDROMESeizuresMental handicapPort-wine stain (neveus flammeus)Leptomeningeal capillary/venous malformation (ipsilateral to no. 1)Cerebral hemiatrophy (ipsilateral to no. 1)Facial hemihypertrophy (ipsilateral to no. 1)Somatic hemiatrophy (contralateral to no. 1)
  29. 29. CT and MR can reveal the secondarychanges, cerebral cortical atrophy, gyriform cerebral calcification (tram-track), compensatory ventricular enlargement, "angiomatous“ enlargement of the ipsilateral choroid plexus, and calvarial hemihypertrophy MR- direct visualization of the persistent embryologic plexus in subarachnoid space Ocular lesions - Buphthalmos, Scleral/choroidal angiomata
  30. 30. STURGE- WEBER SYNDROME :Port wine stain ( PWS)Facial neveus flammeusBlanches with pressureTrigeminal dermatomeV1-opthlmicV2- maxilaryV3-mandibular
  31. 31. PIAL ANGIOMATOSIS,MEDULLARY COLL & CEREBRAL ATROPHY
  32. 32. Case II5 yr femaleComplaints of focal seizure involving right side of body ,impaired milestone , right sided weaknessClinically- portwine strain + , Buphthalmus leftMR imaging…..
  33. 33. Gyriform (linear, convoluted, or serpentine)calcifications infarction, glioma, purulent meningitis, leukemia (following intrathecal administration of methotrexateand skull irradiation), ossifying meningoencephalopathy, and subarachoid fat
  34. 34. Dyke-Davidoff-Masson syndrome
  35. 35.  Dyke-Davidoff-Masson syndrome (DDMS) was initially described as changes in the skull seen on skull X-ray in patients with cerebral hemiatrophy, but is now applied more broadly to cross-sectional imaging also. It is characterised by :•thickening of the skull vault (compensatory)•enlargement of the frontal sinus (also ethmoidal and mastoid air-cells)•elevation of the petrous ridge•ipsilateral falcine displacementIn some sources it is equated to hemispheric infarction, whereas in other sources any cause ofcerebral hemiatrophy are included.   EtymologyInitially described by C.G Dyke , L.M Davidoff and C.B Masson in 1933 5Differential diagnosisGeneral considerations includehemimegalencephaly :Sturge-Weber syndrome : can also be an associationRasmussen encephalitis : tends not to have calvarial changes
  36. 36. Tuberous sclerosisAD; 50% from new spontaneous mutations1 in 20,000 to 1 in 50,000nearly 40% of patients die by the age of35 yearsprominent cutaneous, visceral, and CNS manifestationsMost lesions are hamartomas
  37. 37. DIAGNOSTIC CRITERIA FOR TSCDefinite TSCTwo major features, orone major plus two minor features.Probable TSCOne major plus one minor feature.Possible TSCone major feature, ortwo or more minor features.
  38. 38. DIAGNOSTIC CRITERIA FOR TSCMAJOR FEATURESHypomelanotic macules (three or more), Shagreen patchFacial angiofibromas (adenoma sebaceum) or ungual or periungual fibromasMultiple retinal nodular hamartomas,Cortical tubers, Subependymal nodule, Subependymal giant cell astrocytomaCardiac rhabdomyoma - single or multipleLymphangiomyomatosis.Renal angiomyolipoma
  39. 39. DIAGNOSTIC CRITERIA FOR TSC MINOR FEATURES Multiple pits in dental enamel Gingival fibromas Hamartomatous rectal polyps Bone cysts Cerebral white matter radial migration lines Retinal achromic patch Multiple renal cysts Nonrenal hamartoma "Confetti" skin lesions
  40. 40. Pringle’s disease
  41. 41. Subungal fibroma
  42. 42. Cortical tubers:considered to be closely related to neurologic manifestations of TS - epilepsy, cognitive disability, and neurolobehavioral abnormalities50% seen in frontal lobeHypointense on T1-WIHyperintense on T2-WI, FLAIROnly 10 % enhance
  43. 43. Subependymal Nodulesrepresent hamartomatous change.seen in 98%calcification detected in CT (88%)hyperintense on T1WIIso- to hyp0intense on T2WI
  44. 44. SGCAsproliferative astrocytes and giant cells.1.7%–26% prevalenceTypically in foramen of MonroDiffer from other cerebral astrocytomas in having a benign biologic and pathologic features (slow growth, minimal or no attendant brain edema, and minimal invasiveness)tend to be larger tumors (>1 cm) with incomplete calcifn & more intense enhancementMRS shows high Cho/Cr and low NAA/Cr r
  45. 45. White Matter AbnormalitiesSuperficial white matter abnormalities associated with cortical tubers, Radial white matter bands (15%–27%)Cystlike white matter lesions(15%–44%)
  46. 46. PULMONARY AND THORACICINVOLVEMENTlymphangioleiomyomatosis (LAM)multifocal micronodular pneumocyte hyperplasia (MMPH).approx 1%–2.3% of TS patients. complications of LAM Pneumothorax and chylous pleural effusion ascites.
  47. 47. round, thin-walled cysts of variable size and contour At thin-section CT, multiple tiny nodules (1–8 mm  in diameter) are diffusely scattered throughout the  lung in a random distribution 
  48. 48. RENAL AND RETROPERITONEALINVOLVEMENTRenal angiomyolipoma (AML),renal cysts, andRCCRenal AML in 55%–75% patients with TSRetroperitoneal LAM in up to 20% of patients with pulmonary LAM.
  49. 49. AMLsMC benign tumors of the kidney.characterized by variable amounts of abnormal vessels, immature smooth-muscle and fat cellsCompared with sporadic lesions, AMLs seen in patients with TS tend to manifest at a younger agemultiple, larger, and bilateral andTend to grow.noncalcified cortical tumors containing fat of less than −20 HU
  50. 50. Retroperitoneal LAMthick- or thin-walled cystic lesions.may reflect dilatation of lymph vessels due to obstruction
  51. 51. SKELETAL INVOLVEMENTCyst like lesions,hyperostosis of the inner table of the calvaria ,osteoblastic changes,periosteal new bone formation, andscoliosis.
  52. 52. VON HIPPEL-LINDAU DISEASEAD disorder linked to defect on the short arm of chromosome 3p.Prevalence is approximately 1 in 40,000 to 1 in 50,000 peopleCauses of death - cerebellar hemangioblastoma and RCCScreening is important because the lesions in VHL disease are treatable
  53. 53. Manifestations of VHL Disease according toPrevalence Cerebellar hemangioblastoma 44–72% Medullary hemangioblastoma 5% Spinal cord hemangioblastoma 13–59% Retinal hemangioblastoma 45–59% Renal cell carcinoma 24–45% Pheochromocytoma 0–60% Neuroendocrine tumor of the pancreas 5–17% Serous cystadenoma of the pancreas 12% Pancreatic cysts 50–91% Renal cysts 59–63% Papillary cystadenoma of epididymis 10–60 %.
  54. 54. NATIONAL INSTITUTES OF HEALTH CLASSIFICATION Type I VHL without pheochromocytoma most common type Renal and pancreatic cysts, RCC Type II VHL with pheochromocytoma IIa - Islet cell tumors (no cysts) Iib - Renal/pancreatic disease (least common)
  55. 55. DIAGNOSTIC CRITERIAMore than one CNS hemangioblastoma,One CNS hemangioblastoma + visceral manifestations of VHL disease,Any manifestation and a known family history of VHL disease.
  56. 56. HemangioblastomaHallmark of VHLSeen in 2/3 of patients20-50 yrs of ageTypically multipleMC in cerebellumOther::::medulla > pons, spinal cord, and supratentorially in optic N and cerebrum
  57. 57. Retinal angiomasare actually hemangioblastomas (40-50%)asymptomatic or cause a blind spot.may hemorrhage and can cause retinal detachmentHigher signal intensity than normal vitreous on non- enhanced T1WI
  58. 58. Renal lesionsRenal cysts in 59%–63%RCC in 24%–45% either multicentric and bilateral solid hypervascular masses or complex cystic massesComplex or solid lesions enhance on postcontrast T1- WIA hypointense pseudocapsule on T2-WI
  59. 59. Pancreatic involvementsimple pancreatic cysts (50%–91%)serous microcystic adenomasPancreatic neuroendocrine tumors (5%–17%)Pancreatic lesions may be the only abdominal manifestation and may precede any other manifestation by several years
  60. 60. Annual screening examinations of the abdomen, by ultrasound or CT, have been recommended for some patients with VHL
  61. 61. Ataxia-telangiectasiaAR disorder1 in 20,000-100,000Telangiectasias in skin (face) and eyes,cerebellar ataxiaimmunodeficiency syndromes, and recurrent infections and susceptibility to certain neoplastic processes
  62. 62. MR FINDINGSTelangiectasia of pia mater and white matterHypointense WM foci on T1- and T2-WIDiffuse symmetric increased T2 white matter signalSevere cerebellar atrophy
  63. 63. Hypointense WM foci on T1- and T2-WI
  64. 64. THE PHACE SYNDROMEPosterior fossa malformationsHemangiomasArterial anomaliesCoarctation of the aorta , cardiac defectsEye abnormalities Sometimes, an S is added making it PHACES, with the S standing for Sternal defects and/or Supraumbilical raphe.
  65. 65. Large facial hemangiomas may be associated with a Dandy- Walker malformation, vascular anomalies (coarctation of aorta, aplasia or hypoplastic carotid arteries, aneurysmal carotid dilation, aberrant left subclavian artery), glaucoma, cataracts, microphthalmia, optic nerve hypoplasia, and ventral defects (sternal clefts)Facial hemangioma is typically ipsilateral to the aortic archFemale predominancePatients with large facial cutaneous (S1-S4) hemangiomas were especially at risk of CNS structural and cerebrovascular anomalies; S1 with ocular anomalies; and S3 with airway, ventral, and cardiac anomalies.
  66. 66. Gorlin syndrome Diagnostic criteria A clinical diagnosis can be made using major and minor criteria.  To make the diagnosis, either two major or, one major and two minor  criteria must be met. Major criteria( Classical triad ) basal cell cancers : > 2 or 1 under the age 20 odontogenic keratocysts (see case 1) palmar pits : 3 or more bilamellar calcification of the falx cerebri rib anomalies : bifid rib fused, splayed first degree relative with Gorlin syndrome Minor criteria macrocephaly frontal bossing, cleft lip or hypertelorism Sprengel deformity,  pectus excavatum or pectus carinatum, syndactyly bridging of the sella turcica, hemivertebrae, flame shaped radiolucencies ovarian fibroma, medulloblastoma
  67. 67. Gorlin syndrome
  68. 68. ConclusionPhakomatoses are a diverse group of disordersMost common phakomatoses (excluding SWS) are AD; therefore, a correct diagnosis has genetic implicationsA screening evaluation of all first-degree relatives to see if they are also affected is mandatoryA routine follow-up surveillance program should be established. This typically includes annual CNS imaging studies and, where appropriate, abdominal ultrasound, CT, or MR.
  69. 69. THANK YOU
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