Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients

Bhargava, Ravi; Yong, K J Au; Leonard, Norma

doi:10.3174/ajnr.a3680

Cited by 28 publications

(15 citation statements)

References 27 publications

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“…245 Enlargement of the PVS with adjacent T2-hyperintense white matter signal abnormalities very common, particularly in the parietal lobe. 246 Extensive, progressive spinal epidural lipomatosis, compressing and dislocating the dural sac has reported in one child (Fig 16). 247 Incontinentia pigmenti (OMIM: 308300) General information: X-linked dominant multisystem disorder of ectodermal origin due to mutations in the IKBKG gene important for the regulation of nuclear factor-kappa-B.…”

Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 93%

“…CNS: Macrocephaly is consistent and may be associated with megalencephaly, but not ventriculomegaly . Enlargement of the PVS with adjacent T2‐hyperintense white matter signal abnormalities very common, particularly in the parietal lobe . Extensive, progressive spinal epidural lipomatosis, compressing and dislocating the dural sac has reported in one child (Fig ) …”

Section: Glossarymentioning

confidence: 94%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 93%

Section: Glossarymentioning

confidence: 94%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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“…Leukoencephalopathy has also been described in PHTS patients with developmental delay and/or ASD. A report on seven patients with clinical BRRS (three with confirmed PTEN mutations) described periventricular cystic lesions surrounded by white matter T2 weighted imaging (T2WI) hyperintensities in all cases (Bhargava, Yong, & Leonard, ). Vanderver and coauthors presented a case series of 23 individuals with mutation‐positive PHTS, macrocephaly, developmental abnormalities (+/− ASD), and described a consistent imaging phenotype of enlarged perivascular spaces with or without multifocal periventricular white matter abnormalities (Vanderver et al, ).…”

Section: Introductionmentioning

confidence: 99%

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome

Balci

Dávila

Lewis

et al. 2017

American J of Med Genetics Pt B

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White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were referred for reasons other than developmental delay or ASD. Their clinical presentations ranged from asymptomatic macrocephaly with normal development/intellect, to obsessive compulsive disorder, and debilitating neurological disease. To our knowledge, this report constitutes the first detailed description of PTEN-related white matter changes in adult patients and in children with normal development and intelligence. We present a detailed assessment of the neuropsychological phenotype of our patients and discuss the relationship between the wide array of neuropsychiatric features and observed white matter findings in the context of these individuals.

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“…Marsh et al 6 underlined that patients with BRRS have features of macrocephaly 3,5,9 . Epilepsy was reported in approximately 25% of patients 8,10 . After multiple polyps were shown in colonoscopy, extra intestinal features of the present patient raised suspicion about inherited polyposis syndromes, particularly BRRS, and genetic analysis of the PTEN gene confirmed the diagnosis.…”

Section: Discussionmentioning

confidence: 99%