Septo-optic dysplasia/de Morsier's syndrome
نویسندگان
چکیده
Septo-optic dysplasia (or de Morsier syndrome) is a congenital disorder characterised by anomalies in cerebral midline structures, optic nerve hypoplasia, and hormonal deficiencies. Diagnosis should be made early, due to the possibility of treating the hormonal disturbances. We describe here a case with decreased visual acuity, one-sided hemianopia, nystagmus und agenesis of the septum pellucidum and discuss the heterogeneous appearance of this syndrome. There are two theories regarding its pathogenesis. The first postulates simultaneous damage to both cerebral structures and optic nerve development around the 6th week of gestation, while the other favours secondary degeneration of optic nerve fibres due to a cerebral lesion.
منابع مشابه
De Morsier syndrome associated with periventricular nodular heterotopia: case report.
INTRODUCTION Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction. CASE REPORT Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes,...
متن کاملSepto-Optic Dysplasia: A Mini Review
De-Morsier’s syndrome or Septo-optic dysplasia is a rare medical disorder which is strongly associated with CNS, Ophthalmological manifestations. However, in minority of patients, this condition presents with olfactory tract hypoplasia. The CNS abnormalities include abnormalities of the hypothalamicpituitary axis, hypoplasia of the optic nerve. Often, absence of septum pellucidum is seen along ...
متن کاملSepto-optic dysplasia.
Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystag...
متن کاملMonocular 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 کامل[Congenital mydriasis as an initial sign of septo-optic dysplasia].
Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We ...
متن کامل