Septo-optic Dysplasia
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چکیده
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative injury and genetic mutations have all been considered as possible predisposing factors. [5] Management can be complicated and can entail lifelong multidisciplinary input.
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Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia.
This case depicts an unusual presentation of septo-optic dysplasia. A four-year-old female presented with monocular nystagmus and temporal optic disc pallor in her left eye. Despite a normal sized optic nerve head, magnetic resonance imaging (MRI) showed a hypoplastic intraorbital and intracranial left optic nerve in the absence of a septum pellucidum. She was subsequently diagnosed with septo-...
متن کاملA Case of Schizencephaly and Septo-Optic Dysplasia Presenting with Anterior Encephalocele
Schizencephaly is a rare central nervous system disorder with variable presentations. Here we report a patient with a huge bilateral schizencephaly and septo-optic dysplasia presenting with anterior encephalocele.
متن کاملDiabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum.
The clinical and endocrinological findings in 24 children with septo-optic dysplasia and/or agenesis of the corpus callosum are described with particular reference to posterior pituitary function. Nine had diabetes insipidus. The prevalence of diabetes insipidus was similar in children with complete and incomplete forms of septo-optic dysplasia. Maintenance of normal osmotic balance was very di...
متن کاملCandidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort
Schizencephaly is a malformation of cortical development characterized by gray matter-lined clefts in the cerebral cortex and a range of neurological presentations. In some cases, there are features of septo-optic dysplasia concurrently with schizencephaly. The etiologies of both schizencephaly and septo-optic dysplasia are thought to be heterogeneous, but there is evidence that at least some c...
متن کاملSepto-optic dysplasia plus: a spectrum of malformations of cortical development.
The authors describe three children with septo-optic dysplasia (SOD)-plus: SOD and an associated malformation of cortical development. All three children had developmental delay, and two of the children had significant associated motor deficits. The associated cortical malformations with SOD include a spectrum of disorders of neuronal organization, not limited, as previously described, to schiz...
متن کاملSepto-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils.
Introduction We describe a newborn female infant with septo-optic dysplasia (SOD) presenting with bilateral dilated and fixed pupils. Conclusion Our report is unique because the incidental finding of bilateral dilated and fixed pupils on the newborn exam was the only clinical finding which led to a prompt work-up and eventual diagnosis of SOD.
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