Neuroimaging of phakomatoses: overview and advances

Vézina, Gilbert

doi:10.1007/s00247-015-3282-3

Cited by 24 publications

(18 citation statements)

References 29 publications

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“…In some cases, however, columnar defective structures radiating from the brain stem to the cortex suggest T2SM (Fig. ) . In particular, the cerebral ‘radial proliferation lines’ are evocative of T2SM.…”

Section: Disorders Of Connective Tissue or Bonesmentioning

confidence: 99%

“… MRI shows radial lesions suggesting cerebral type 2 segmental mosaicism in tuberous sclerosis. (a) In a 10‐year‐old girl, axial magnetization transfer T1‐weighted image reveals multiple linear white matter abnormalities throughout the cerebral hemispheres (arrows) . (b) A segmental hyperintense area on FLAIR image .…”

Section: Disorders Of Connective Tissue or Bonesmentioning

confidence: 99%

“…11). [121][122][123] In particular, the cerebral 'radial proliferation lines' 124 are evocative of T2SM. Another cerebral form of T2SM is congenital hemimegalencephaly (Fig.…”

Section: (A) (B) (C)mentioning

confidence: 99%

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The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.

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Section: Disorders Of Connective Tissue or Bonesmentioning

confidence: 99%

Section: Disorders Of Connective Tissue or Bonesmentioning

confidence: 99%

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The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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“…They are not epileptogenic and can change in size or enhancement over the first decade of life. Subependymal nodules are T1 hyper-intense and T2 hypo-intense lesions along the lateral ventricles that often enhance with gadolinium and are described as having the appearance of "candle drip-pings" [21]. SEGA appear as round to ovoid lesions that are iso-to hypo-intense on T1 MRI and hyper-intense on T2 MRI.…”

Section: Diagnosismentioning

confidence: 99%

Phakomatoses and Their Tumors: Genetics and New Treatment Options

Malik¹,

Majeed²,

Turner³

2017

New Approaches to the Management of Primary and Secondary CNS Tumors

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In addition to sporadic primary neoplasms of the central nervous system, several genetic syndromes associated with CNS tumors have been identified. Tuberous sclerosis, neurofibromatosis-1 and -2, and von Hippel-Lindau syndrome belong to a collection of disorders called phakomatoses, which include both CNS tumors and cutaneous manifestations. The underlying genetics of these disorders are being elucidated and offer novel therapies for intervention.

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“…The neurocutaneous syndromes are a group of disorders that involve abnormalities of the central nervous system, in addition to characteristic skin lesions. Neurofibromatosis type I (NF1), Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are among the most common neurocutaneous syndromes (1). Neurofibromatosis type 1(NF1) is the most common autosomal dominant neurocutaneous syndrome.…”

Section: Introductionmentioning

confidence: 99%

Neurocutaneous Syndromes: Evaluation of Clinical and Neuroradiological Findings

Çavuşoğlu

Gökaslan

2021

Kocatepe Tıp Dergisi

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OBJECTIVE: Neurofibromatosis type I (NF1), Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are the most common neurocutaneous syndromes. The purpose of this study is to evaluate the clinical and neuroradiological manifestations of patients diagnosed with NF1, TSC, and SWS.MATERIAL AND METHODS: In our clinic, records of 15 patients with NF1, TSC, and SWS were retrospectively reviewed between December 2017 and May 2019. Clinical and neuroradiological manifestations of patients were detailed.RESULTS: 15 patients consisting of 9 NF1, 5 TSC, and 1 SWS were determined between the ages of 9 days and 13,83 years (5 females and 10 males). All NF1 patients had café-au-lait spots. One (11.1%) with lisch nodules, one (11.1%) with optic glioma, one (11.1%) with epilepsy, two (22.2%) with macrocephaly, two (22.2%) with hydrocephalus, one (11.1%) with optic glioma and seven (77.7%) with family history were established. All TSC patients had hypomelanotic macules and epilepsy. It was indicated cardiac rhabdomyoma in 3 (60%) patients, angiomyolipoma in one (20%) patient and polycystic kidney in one (20%) patient. The patient with SWS was showed available of facial angioma, glaucoma, and epilepsy. It was pointed UBOs (unknown bright objects) with 6 (66.6%) patients, 2 (22.2%) patients with hydrocephalus, one (11.1%) patient with subependymal nodule and one (11.1%) patient with optic glioma in NF1 patients. Brain magnetic resonance imaging of all TSC patients showed cortical/subcortical tubers and two patients with subependymal nodules. Cortical and parenchymal atrophy and calcification were presented in cranial computed tomography of the patient with SWS.CONCLUSIONS: Clinical and neuroradiological manifestations of neurocutaneous syndrome are guidance for diagnosis so that detailed examination and neuroradiological perspective on neurocutaneous diseases will provide convenience in diagnosis and follow-up.

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Neuroimaging of phakomatoses: overview and advances

Cited by 24 publications

References 29 publications

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Phakomatoses and Their Tumors: Genetics and New Treatment Options

Neurocutaneous Syndromes: Evaluation of Clinical and Neuroradiological Findings

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