Midbrain-Hindbrain Involvement in Septo-Optic Dysplasia

Severino, Mariasavina; Allegri, Anna Elsa Maria; Pistorio, Angela; Roviglione, Barbara; Iorgi, Natascia Di; Maghnie, Mohamad; Rossi, Andrea

doi:10.3174/ajnr.a3959

Cited by 21 publications

(18 citation statements)

References 42 publications

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“…Usually, involvement of the visual pathways in septo-optic dysplasia carries a much poorer prognosis than does septo-optic dysplasia with associated endocrine dysfunction 19 . Moreover, visual deficits are normally the first presenting sign, whereas endocrine dysfunction may become apparent later on 20 . Of the eight cases with agenesis of the SP in our study, five had OC measurements within the normal range and long-term follow-up showed normal vision in four of these.…”

Section: Discussionmentioning

confidence: 99%

Two‐dimensional visualization and measurement of the fetal optic chiasm: improving counseling for antenatal diagnosis of agenesis of the septum pellucidum

Viñals

Ruiz

Correa

et al. 2016

Ultrasound in Obstet & Gyne

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Our study demonstrates that it is possible to visualize and measure the OC directly on a 2D ultrasound coronal plane. In fetuses with agenesis of the SP, the morphology and width of the OC visual pathway could prove a relevant tool for assessing its development. It would also help in the difficult task of providing antenatal counseling when faced with the diagnosis of agenesis of the SP. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

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Section: Discussionmentioning

confidence: 99%

Two‐dimensional visualization and measurement of the fetal optic chiasm: improving counseling for antenatal diagnosis of agenesis of the septum pellucidum

Viñals

Ruiz

Correa

et al. 2016

Ultrasound in Obstet & Gyne

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“…In order to objectively evaluate associated MH malformations, the following biometric parameters were measured in all the MRI examinations of patients with DMJ anomalies as well as in controls: the craniocaudal (CC) and anteroposterior (AP) diameters of midbrain, pons, medulla, and vermis and the transverse cerebellar diameter [15]. All measurements were performed by two pediatric neuroradiologists (M.S.…”

Section: Midbrain-hindbrain Morphometrymentioning

confidence: 99%

Expanding the spectrum of congenital anomalies of the diencephalic–mesencephalic junction

et al. 2015

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“…Occasionally, cortical abnormalities (especially schizencephaly, polymicrogyria, and nodular gray matter heterotopias), hippocampal malrotation, and white matter hypoplasia with secondary thinning of the corpus callosum. Posterior fossa involvement including vermian, pontine, and lower brainstem hypoplasia in about 50% of the patients …”

Section: Glossarymentioning

confidence: 99%

“…Posterior fossa involvement including vermian, pontine, and lower brainstem hypoplasia in about 50% of the patients. 297 Genitopatellar syndrome (OMIM: 606170) General information: About 20 cases reported so far. Somatic findings: Extremity contractures, urogenital anomalies, developmental disability, and facial dysmorphic features including coarseness of the face, microcephaly, a large nose, and a high nasal bridge.…”

Section: Septo-optic Dysplasia (Omim: 182230)mentioning

confidence: 99%

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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Midbrain-Hindbrain Involvement in Septo-Optic Dysplasia

Cited by 21 publications

References 42 publications

Two‐dimensional visualization and measurement of the fetal optic chiasm: improving counseling for antenatal diagnosis of agenesis of the septum pellucidum

Two‐dimensional visualization and measurement of the fetal optic chiasm: improving counseling for antenatal diagnosis of agenesis of the septum pellucidum

Expanding the spectrum of congenital anomalies of the diencephalic–mesencephalic junction

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

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