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 pellucid...

Basal encephaloceles are often associated with other midline anomalies such as hypertelorism, broad nasal root, cleft lip, and cleft palate. Optic disc anomalies such as pallor, dysplasia, optic pit, coLoboma, and megalopapilla have been reported to occur in patients with basal encephalocele We report a case of a child with a sphenoethmoidal encephalocele and morning glory syndrome of the optic...

The optic nerves and globes obtained from 6 anencephalics were studied histologically and compared to normal specimens obtained from 4 stillborn infants as well as 1 case of septo-optic dysplasia. Special emphasis was placed on examination of the optic nerve, and it was found that an average of 48 vessels per high-power field were seen posterior to the lamina cribrosa in anencephalics. In contr...

McCune-Albright syndrome (MAS) is characterized by a triad of poly/monostotic fibrous dysplasia, café-au-lait macules and hyperfunctioning endocrinopathies including human growth hormone excess. Acromegaly as a manifestation of endocrine hyperfunction with MAS is uncommon. Surgical excision may be challenging due to the associated severe fibrous dysplasia of the skull base. Through the endoscop...

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.

We present the case of a patient with craniofacial polyostotic fibrous dysplasia. Polyostotic fibrous dysplasia is relatively rare and usually presents in late childhood/early adulthood. It is occasionally associated with endocrine disorders such as McCune-Albright syndrome. The benign pathology of this bone tumor belies its implications in the region of the skull base. Craniofacial polyostotic...

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 ...

Schizencephaly is a rare malformation of the central nervous system. Both genetic and non-genetic etiologies like prenatal infections or ischemia have been postulated. Clinical manifestations most often include varying degrees of developmental delay, motor impairment and seizures. It can be associated with septo-optic dysplasia (SOD), optic nerve hypoplasia and absence of septum pellucidum, pac...

The clinical presentation of optic nerve anomalies associated with renal hypodysplasia should alert the clinician to the possibility that a patient may have renal coloboma syndrome, a condition also known as papillorenal syndrome (OMIM#120330). The optic nerve findings could be described as a ‘dysplasia’, characterized by absent central vessels with the emergence of vessels from the periphery o...