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Neuroradiology of Phakomatoses
- 1. Dr Waseem Nizamani Senior Registrar Neuroradiology Time: 30 minutes Slides: 49
- 2. ο
- 3. ο ο Definition ο The term β Phakomaβand its Embryological Connection ο Clinical Presentation ο Neuroradiological Presentation ο Cases Learning Goals
- 4. ο ο The phakomatoses are a heterogeneous group of disorders primarily involving structures derived from the embryologic neuroectoderm. ο However, they commonly exhibit associated pathology in tissues derived from all three germ cell layers, most notably ectoderm (skin) and mesoderm (connective tissue). Definition
- 5. ο ο All the phakomatoses involve the central nervous system (CNS); some also affect the peripheral nervous system. Most are associated with cutaneous signs, and many have visceral and connective tissue (mesodermal) changes. ο Since the eye is functionally and developmentally part of the CNS, it is not surprising that ocular/retinal involvement is common in the phakomatoses.
- 6. ο ο The term "phakoma" implies a benign growth of normal or nearly normal cells that are indigenous to the involved tissue; it may be likened to the term "hamartoma." ο The word phakoma is usually described as being derived from the Greek "phakos"- a word whose meaning is erroneously generalized to include "mother spot" (birthmark?) and "lentil," as well as its true meaning which is "lens" or "eye Phakoma
- 7. ο ο In 1920, the Dutch ophthalmologist van der Hoeve first used "phakoma" to describe two different benign ocular lesions. ο Neurofibromatosis (NF) ο Tuberous sclerosis (TS) ο Calling both these lesions "phakomas," van der Hoeve then assumed that TS and NF were related diseases, and
- 8. ο ο coined the term "phakomatoses" as the umbrella for congenital disorders affecting the CNS with benign growths. ο Later, he enlarged this concept to include other conditions characterized by CNS, cutaneous, and often ocular involvement, eg, Sturge-Weber syndrome (SWS) and von Hippel-Lindau disease.
- 9. ο ο Although authorities debate the logic of this grouping, some 20 to 30 other disorders have now been classified as phakomatoses
- 11. ο ο Sturge-Weber syndrome (SWS) is a congenital disorder of the vasculature of the face, the meninges, the brain, and often the eye. ο It is sometimes called "encephalofacial" or "encephalotrigeminal" angiomatosis, because the hallmark is the vascular lesion that involves the territory of the trigeminal nerve (CN V) plus the ipsilateral brain and meninges.
- 12. ο ο Typical patients exhibit a dark red or reddish-brown "port-wine" stain or nevus ("nevus flammeus") on the face in the trigeminal territory ο The most common clinical manifestation is with childhood seizures, present in 71-89% of cases 2, that are often refractory to medical therapy 1. These usually begin in the first few years of life and are often associated with developmental delay and hemispheric symptoms including hemiplegia/hemiparesis and hemianopsia. Clinical Pres
- 13. ο Neuroradiology CT ο detects subcortical calcification at an earlier age than plain film and can also demonstrate associated parenchymal volume loss ο tram-track sign of cortical and subcortical calcification
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- 16. ο ο Prominent leptomeningeal enhancement in affected area ο Much later in life the angioma may 'burn out' losing enhancement ο Enlarged ipsilateral choroid plexus MRI
- 17. ο
- 19. ο ο Tuberous sclerosis (TS), also known as tuberous sclerosis complex or Bourneville disease, is a neurocutaneous disorder (phakomatosis) characterised by the development of multiple benign tumours of the embryonic ectoderm (e.g. skin, eyes, and nervous system). Definition
- 20. ο Tuberous sclerosis was classically described as presenting in childhood with a triad (Vogt triad) of: ο seizures: absent in one-quarter of individuals ο mental retardation: up to half have normal intelligence ο adenoma sebaceum: only present in about three- quarters of patients Clinical Triad
- 21. ο Tuberous sclerosis has a significant number of manifestations, involving many organ systems. The most common manifestations are: ο cortical or subependymal tubers and white matter abnormalities ο renal angiomyolipomas (AML) ο cardiac rhabdomyoma(s)
- 22. ο ο cortical/subcortical tubers: 50% are in the frontal lobe; high T2 and low T1 with only 10% of tubers showing enhancement; frequently calcify after two years of age ο subependymal hamartomas ο 88% are associated with calcification, although calcification absent in early childhood ο visible within the first six months of age ο variable signal, frequently high T1 and iso to high T2 ο enhancement is variable and is not a useful feature in distinguishing them from subependymal giant cell astrocytomas (SGCA); only serial growth is reliable 5,6 Neurological
- 23. ο ο subependymal giant cell astrocytomas (SGCA) ο peak occurrence 8-18 years ο tend to be large and demonstrate growth 5,6 ο tend to have intense enhancement ο white matter abnormalities ο variable appearance, with nodular, ill-defined, cystic and band-like lesions seen ο retinal phakomas
- 24. ο ο rarer findings ο cerebellar atrophy ο infarcts (due to occlusive vascular disorders) ο cerebral aneurysms ο dysgenesis of the corpus callosum ο Chiari malformations ο microcephaly ο arachnoid cysts ο chordoma
- 25. ο Radiology
- 26. ο
- 27. ο ?
- 28. ο ο Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis. ο Also known as peripheral neurofibromatosis Neurofibromatosis 1
- 29. ο ο >6 cafe au lait spots evident during one year ο two or more neurofibromas or one plexiform neurofibroma ο optic nerve glioma ο distinctive osseous lesion (such as sphenoid wing dysplasia or thinning of long bone cortex with or without pseudoarthrosis) ο two or more iris hamartomas (Lisch nodules) ο axillary or inguinal freckling ο primary relative with NF1 with above criteria Diagnostic Crit
- 30. ο ο Breast manifestations ο Central nervous system manifestations ο Cutaneous manifestations ο Musculoskeletal manifestations ο Pulmonary manifestations ο Orbital manifestations Systemic manifestations
- 31. ο ο FASI (focal areas of signal intensity): occur in deep white matter and basal ganglia or corpus callosum 5, areas of T2/FLAIR hyperintensity with no contrast enhancement ο optic nerve glioma or optic pathway glioma (may manifest as enlarged optic foramen) ο progressive sphenoid wing dysplasia CNS manifestations
- 32. ο ο lambdoid suture defects ο dural calcification at vertex ο moya moya phenomenon (rare) ο buphthalmos
- 33. ο Imaging
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- 38. ο ο Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumours. ο Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. ο May be called central neurofibromatosis. Neurofibromatosis 2
- 39. ο Instead, patients with this disease have: ο intracranial schwannoma(s): mostly vestibular schwannoma(s) sometimes patients may have spinal schwannomas ο intracranial and spinal meningioma(s) ο intraspinal-intramedullary ependymoma(s) CNS lesions
- 40. ο ο These features give rise to the acronym MISME, which describes Multiple Inherited Schwannomas Meningiomas and Ependymomas 4. ο In fact, labelling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities MISME
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- 46. ο ο Bilateral vestibular schwannomas are diagnostic of NF2 but care should be taken because bilateral internal acoustic meatus masses are not specific for vestibular schwannoma and can represent, for example, sarcoid or metastases . Practical points
- 47. ο ο ataxia telangiectasia ο von Hippel-Lindau disease (retinocerebellar angiomatosis) ο incontinentia pigmenti (Bloch-Sulzberger syndrome) ο basal cell naevus syndrome (Gorlin-Goltz syndrome) ο Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome) ο encephalocraniocutaneous lipomatosis ο hypomelanosis of Ito Other Phakomatosis
- 48. ο ο Nijmegen breakage syndrome ο epidermal naevus syndrome[+] ο neurocutaneous melanosis ο progressive facial hemiatrophy (Parry-Romberg syndrome) ο PHACE syndrome ο Cowden disease/COLD syndrome ο Gomez-Lopez-Hernandez syndrome
- 49. ο