No abstract available.
Septo-Optic Dysplasia*

Septo-optic dysplasia is an uncommon developmental disorder consisting of septum pellucidum angenesis, optic nerve hypoplasia, congenital nystagmus, seizure and multiple endocrine dysfunction. Clinically mild forms of septo-optic dysplasia and syndrome of absent septum pellucidum are now easily detected by computed tomography. We report two cases of septo-optic dysplasia with consistent radiographic findings with the anomaly.
Nystagmus, Congenital ; Optic Nerve ; Seizures ; Septo-Optic Dysplasia* ; Septum Pellucidum

Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum.
Holoprosencephaly ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum

Septo-optic dysplasia, first described by de Morsier in 1956, is an uncommon congenital midline structural abnormality of the brain, including agenesis of septum pellucidum, primitive optic ventricle and dysplasia of the optic chiasm, optic nerves, and infundibulum. Agenesis of septum pellucidum, initially thought to be an integral part of this syndrome, is inconstant and not an essential part of the disorder. Also, it reveals a variable spectrum of associated abnormalities in disturbed hypothalamic-pituitary function. We recently experienced 3 patients of septo-optic dysplasia who showed bilateral optic disc hypoplasia clinically and midline structural abnormalities in computerized tomography(CT) or magnetic resonance imaging(MRI).
Brain ; Humans ; Optic Chiasm ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum

Septo-optic dysplasia, as first described by de Morsier, is a rare developmental anomaly involving optic nerve hypolasia, midline anomalies of the brain and variable hypothalamic-pituitary dysfunction. We experienced a case of septo-optic dysplasia in 56-day old male infant who presented with prolonged jaundice. A magnetic resonance imaging of the brain showed absence of the septum pellucidum and the ophthalmoscopic examination disclosed left optic nerve hypoplasia. Thus, we reported it with a brief review of literatures.
Brain ; Humans ; Infant ; Jaundice ; Magnetic Resonance Imaging ; Male ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum

De Morsier syndrome, or septo-optic dysplasia is a developmental anomaly characterized by unilateral or bilaterral optic nerve hypoplasia, agenesis of septum pellucidum, visual disturbance, and a variable spectrum of disturbed hypothalamic-pituitary function. We experienced a 7-month-old female with de Morsier syndrome whose presenting manifestation was congenital exotropia of right eye, and subsequent evaluation revealed optic nerve hypoplasia of right eye, absence of septum pellucidum, and hypothyroidism.
Exotropia* ; Female ; Humans ; Hypothyroidism ; Infant ; Optic Nerve ; Septo-Optic Dysplasia ; Septum Pellucidum

The association of abnormalities of the optic nerves, optic chiasm, and optic tracts with anomalies of the midline structures in the brain-an absent septum pellucidum etc was reported and called "septo-optic dysplasia". Also, it was noted that septo-optic dysplasia could be associated with hypopituitary dwarfism. It occurs more commonly in first born children and children born to young or diabetic mothers. We report a case of septo-optic dysplasia with literature, who had complained of severe visual impairment associated with nystagmus, bilateral optic nerve hypoplasia, absent septum pellucidum, and normal range of hormone studies.
Child ; Dwarfism ; Humans ; Mothers ; Optic Chiasm ; Optic Nerve ; Reference Values ; Septo-Optic Dysplasia* ; Septum Pellucidum ; Vision Disorders ; Visual Pathways

The septo-optic dysplasia, or de Morsier syndrome is a developmental anomaly characterized by involvement of the septum pellucidum, optic system and hypothalamic-pituitary axis. We had experienced a case of septo-optic dysplasia in 8 month-old female. A magnetic resonance imaging of the brain showed isolated absent septum pellucidum. And ophthalmoscopic examination showed right optic nerve hypoplasia, exotropia of right eye.
Axis, Cervical Vertebra ; Brain ; Exotropia ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Optic Nerve ; Septo-Optic Dysplasia* ; Septum Pellucidum

Septo-optic dysplasia, as first described by de Morsier, is a rare developmental anomaly of absent or hypoplastic septum pellucidum, a primitive optic vesicle, and dysplasia of the optic nerve, chiasm, and optic tracts. It is a common cause of hypopituitarism in children and has variable hypothalamic-pituitary dysfunction. We experienced a case of septo-optic dysplasia in 5 month old female baby who presented with developmental delay and seizure. A magnetic resonance imaging of the brain showed absence of the septum pellucidum and the fundoscopic examination disclosed the absence of left optic disc and atrophy of right optic disc.
Atrophy ; Brain ; Child ; Female ; Humans ; Hypopituitarism ; Infant ; Magnetic Resonance Imaging ; Optic Nerve ; Seizures ; Septo-Optic Dysplasia* ; Septum Pellucidum ; Visual Pathways

Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is an abnormal cleft in the brain, lined with gray matter which may communicate with the ventricular system. Septo-optic dysplasia with schizencephaly is associated with endocrinologic disorders, visual impairment, mental retardation, and seizures. We report a case of septo-optic dysplasia with schizencephaly which was diagnosed in the early neonatal period.
Brain ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Intellectual Disability ; Malformations of Cortical Development ; Optic Chiasm ; Seizures ; Septo-Optic Dysplasia ; Vision Disorders