The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders

Samara, Amjad; Gusman, Mariya; Aker, Loai; Parsons, Matthew S.; Mian, Ali; Eldaya, Rami W.

doi:10.1067/j.cpradiol.2021.07.002

Cited by 3 publications

(8 citation statements)

References 83 publications

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“…AT (OMIM #208900; Figure 16) is an autosomal recessive inherited ataxia and is found in about one or two in 100,000 individuals 127 . AT is caused by a mutation in the ataxia‐telangiectasia gene ( ATM ; located 11q22.3).…”

Section: Cerebellar Ataxiamentioning

confidence: 99%

“…The affected protein is involved in a wide variety of cellular functions, including DNA repair and cell cycle control. AT is a multiorgan disorder mainly including cerebellar degeneration, telangiectasia, immunodeficiency, radiation sensitivity, and elevated cancer risk 122,127 . Neurological symptoms begin in childhood, with children presenting with ataxia usually at the age of 5, followed by speech deterioration and ocular motor apraxia 122,127 .…”

Section: Cerebellar Ataxiamentioning

confidence: 99%

“…AT is a multiorgan disorder mainly including cerebellar degeneration, telangiectasia, immunodeficiency, radiation sensitivity, and elevated cancer risk 122,127 . Neurological symptoms begin in childhood, with children presenting with ataxia usually at the age of 5, followed by speech deterioration and ocular motor apraxia 122,127 . Telangiectasias can be seen on the surface of the sclera, skin, and less frequently in the brain 122,127 …”

Section: Cerebellar Ataxiamentioning

confidence: 99%

“…124,125 Ataxia telangiectasia AT (OMIM #208900; Figure 16) is an autosomal recessive inherited ataxia and is found in about one or two in 100,000 individuals. 127 AT is caused by a mutation in the ataxia-telangiectasia gene (ATM; located 11q22.3). The affected protein is involved in a wide variety of cellular functions, including DNA repair and cell cycle control.…”

Section: Dwm (Online Mendelian Inheritance In Man [Omim] %220200;mentioning

confidence: 99%

“…122,127 Neurological symptoms begin in childhood, with children presenting with ataxia usually at the age of 5, followed by speech deterioration and ocular motor apraxia. 122,127 Telangiectasias can be seen on the surface of the sclera, skin, and less frequently in the brain. 122,127 MRI may demonstrate cerebellar atrophy later in the course of the disease.…”

Section: Dwm (Online Mendelian Inheritance In Man [Omim] %220200;mentioning

confidence: 99%

See 4 more Smart Citations

Neuroimaging in cerebellar ataxia in childhood: A review

Serrallach

Orman

Boltshauser

et al. 2022

Journal of Neuroimaging

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Ataxia is one of the most common pediatric movement disorders and can be caused by a large number of congenital and acquired diseases affecting the cerebellum or the vestibular or sensory system. It is mainly characterized by gait abnormalities, dysmetria, intention tremor, dysdiadochokinesia, dysarthria, and nystagmus. In young children, ataxia may manifest as the inability or refusal to walk. The diagnostic approach begins with a careful clinical history including the temporal evolution of ataxia and the inquiry of additional symptoms, is followed by a meticulous physical examination, and, depending on the results, is complemented by laboratory assays, electroencephalography, nerve conduction velocity, lumbar puncture, toxicology screening, genetic testing, and neuroimaging.Neuroimaging plays a pivotal role in either providing the final diagnosis, narrowing the differential diagnosis, or planning targeted further workup. In this review, we will focus on the most common form of ataxia in childhood, cerebellar ataxia (CA). We will discuss and summarize the neuroimaging findings of either the most common or the most important causes of CA in childhood or present causes of pediatric CA with pathognomonic findings on MRI. The various pediatric CAs will be categorized and presented according to (a) the cause of ataxia (acquired/disruptive vs. inherited/genetic) and (b) the temporal evolution of symptoms (acute/subacute, chronic, progressive, nonprogressive, and recurrent).

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Section: Cerebellar Ataxiamentioning

confidence: 99%

Section: Cerebellar Ataxiamentioning

confidence: 99%

Section: Cerebellar Ataxiamentioning

confidence: 99%

Section: Dwm (Online Mendelian Inheritance In Man [Omim] %220200;mentioning

confidence: 99%

Section: Dwm (Online Mendelian Inheritance In Man [Omim] %220200;mentioning

confidence: 99%

See 3 more Smart Citations

Neuroimaging in cerebellar ataxia in childhood: A review

Serrallach

Orman

Boltshauser

et al. 2022

Journal of Neuroimaging

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Craniofacial findings in syndromes associated with cafe-au-lait spots: a literature review

Carvalho

Ferraz

Martelli

et al. 2023

Rev. Assoc. Med. Bras.

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The Big Brain Theory: A Review of Overgrowth Syndromes for the Neuroradiologist

Marini,

Mistry,

Jetty

et al. 2023

neurograph

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Overgrowth syndromes are a generally rare and diverse spectrum of disease states related to genetic mutations regulating cell growth and metabolism, resulting in pathologic overgrowth of anatomic structures. Due to their rarity, radiologists may be generally unfamiliar with these diseases. Furthermore, the complexity of these conditions may pose a challenge to clinicians seeking to understand these syndromes. In this review, we provide an overview of the common imaging findings of overgrowth syndromes for the neuroradiologist with an additional emphasis on predisposition to malignancy. Understanding the most common neuroimaging findings and considerations associated with overgrowth syndromes helps to provide the highest quality of care to these patients by equipping the radiologist with the skills to actively search for characteristic disease manifestations and complications.Learning Objective: To identify the neuroimaging findings in overgrowth syndromes

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The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders

Cited by 3 publications

References 83 publications

Neuroimaging in cerebellar ataxia in childhood: A review

Neuroimaging in cerebellar ataxia in childhood: A review

Craniofacial findings in syndromes associated with cafe-au-lait spots: a literature review

The Big Brain Theory: A Review of Overgrowth Syndromes for the Neuroradiologist

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