Septo-optic dysplasia
- Otsuka Pharmaceutical, Consultant (past)
- Innovenn, Inc, Consultant (past)
Updates to Article Attributes
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a condition characterised by optic nerve hypoplasia and absence of the septum pellucidum and, in two-thirds of patients hypothalamic-pituitary dysfunction. It is best thought of as being part of the holoprosencephaly spectrum (see classification system for midline malformations).
Epidemiology
Septo-optic dysplasia has an estimated prevalence of ~1:50,000. There is no recognised gender predilection.
Risk factors
A number of risk factors have been identified 8,9:
maternal diabetes
-
medications
quinidine ingestion
antiepileptics
drug and alcohol abuse
cytomegalovirus infection
Clinical presentation
Clinical presentation of septo-optic dysplasia is varied and mostly dependent on whether or not it is associated with schizencephaly (~50% of cases). This association is used to define two forms of the condition 1,8:
-
not associated with schizencephaly
visual apparatus more severely affected
hypothalamic-pituitary dysfunction present in 60-80% of patients 6,8
may present as hypoglycaemia in the neonatal period 6
small pituitary gland with hypoplastic or absent infundibulum and ectopic posterior pituitary seen as a focus of T1 high signal intensity in the median eminence of hypothalamus
olfactory bulbs may be absent (arhinencephaly) 8
-
associated with schizencephaly
optic apparatus less severely affected
cortical anomalies: polymicrogyria, cortical dysplasia
may be aetiologically different 8
sometimes referred to as septo-optic dysplasia plus 8
In addition, a number of other associations are recognised including:
Pathology
The abnormality develops during 4th-6th weeks of gestation, during early forebrain development. The exact aetiology is unknown, with an underlying genetic defect currently accounting for <1% of cases 9.
Radiographic features
All imaging modalities that can visualise the septum pellucidum (ultrasound, CT and MRI) will detect its absence in septo-optic dysplasia. Some additional modality dependent features may also be visible.
CT
In addition to enlarged lateral ventricles with an absent septum pellucidum, CT may demonstrate small optic apparatus (best seen with volumetric scanning and coronal reformats) and associated small bony optic foramina.
MRI
MRI is the modality of choice for assessing septo-optic dysplasia.
may show a "point down" appearance of the lateral ventricular frontal horns on coronal images
absent septum pellucidum
hypoplastic pituitary stalk
hypoplastic optic chiasm/optic nerves and globes
Treatment and prognosis
The management of septo-optic dysplasia requires a multidisciplinary team to assess and treat for hormonal imbalance, loss of vision, autism and obesity 9.
History and etymology
Septo-optic dysplasia was first described by George de Morsier (1894-1982), Swiss neurologist in 1956 6,7.
Differential diagnosis
Consider
-
may not be able to be differentiated 8
anterior cerebral artery will have its course shifted anteriorly in lobar holoprosencephaly (sign described on prenatal ultrasound also, midline sagittal view with colour Doppler)
optic chiasm is not expected to be hypoplastic
-<p><strong>Septo-optic dysplasia (SOD)</strong>, also known as <strong>de Morsier syndrome</strong>, is a condition characterised by <a href="/articles/optic-nerve-hypoplasia">optic nerve hypoplasia</a> and <a href="/articles/absence-of-septum-pellucidum">absence of the septum pellucidum</a> and, in two-thirds of patients <a href="/articles/hypothalamic-pituitary-dysfunction">hypothalamic-pituitary dysfunction</a>. It is best thought of as being part of the <a href="/articles/holoprosencephaly">holoprosencephaly</a> spectrum (see <a href="/articles/classification-system-for-midline-abnormalities-of-the-brain-and-skull">classification system for midline malformations</a>).</p><h4>Epidemiology</h4><p>Septo-optic dysplasia has an estimated prevalence of ~1:50,000. There is no recognised gender predilection.</p><h5>Risk factors</h5><p>A number of risk factors have been identified <sup>8,9</sup>:</p><ul>-<li><p>maternal diabetes</p></li>-<li>-<p>medications</p>-<ul>-<li><p>quinidine ingestion</p></li>-<li><p>antiepileptics</p></li>-</ul>-</li>-<li><p>drug and alcohol abuse</p></li>-<li><p>cytomegalovirus infection</p></li>-</ul><h4>Clinical presentation</h4><p>Clinical presentation of septo-optic dysplasia is varied and mostly dependent on whether or not it is associated with <a href="/articles/schizencephaly">schizencephaly</a> (~50% of cases). This association is used to define two forms of the condition <sup>1,8</sup>:</p><ul>-<li>-<p>not associated with schizencephaly</p>-<ul>-<li><p>visual apparatus more severely affected</p></li>-<li><p>hypothalamic-pituitary dysfunction present in 60-80% of patients <sup>6,8</sup></p></li>-<li><p>may present as hypoglycaemia in the neonatal period<sup> 6</sup></p></li>-<li><p>small <a href="/articles/pituitary-gland">pituitary gland</a> with hypoplastic or absent infundibulum and <a href="/articles/ectopic-posterior-pituitary">ectopic posterior pituitary</a> seen as a focus of T1 high signal intensity in the median eminence of <a href="/articles/hypothalamus">hypothalamus</a></p></li>-<li><p><a href="/articles/olfactory-nerve">olfactory bulbs</a> may be absent (<a href="/articles/arhinencephaly" title="Arhinencephaly">arhinencephaly</a>) <sup>8</sup></p></li>-</ul>-</li>-<li>-<p>associated with <a href="/articles/schizencephaly">schizencephaly</a></p>-<ul>-<li><p>optic apparatus less severely affected</p></li>-<li><p>cortical anomalies: <a href="/articles/polymicrogyria">polymicrogyria</a>, <a href="/articles/focal-cortical-dysplasia">cortical dysplasia</a></p></li>-<li><p>may be aetiologically different <sup>8</sup></p></li>-<li><p>sometimes referred to as <strong>septo-optic dysplasia plus</strong> <sup>8</sup></p></li>-</ul>-</li>-</ul><p>In addition, a number of other associations are recognised including:</p><ul>-<li><p><a href="/articles/rhombencephalosynapsis">rhombencephalosynapsis</a> <sup>6</sup></p></li>-<li><p><a href="/articles/chiari-ii-malformation">Chiari II malformation</a> <sup>8</sup></p></li>-<li><p><a href="/articles/aqueduct-stenosis">aqueductal stenosis</a><sup> 8</sup></p></li>-</ul><h4>Pathology</h4><p>The abnormality develops during 4<sup>th</sup>-6<sup>th </sup>weeks of gestation, during early <a href="/articles/prosencephalon">forebrain </a>development. The exact aetiology is unknown, with an underlying genetic defect currently accounting for <1% of cases <sup>9</sup>.</p><h4>Radiographic features</h4><p>All imaging modalities that can visualise the septum pellucidum (ultrasound, CT and MRI) will detect its absence in septo-optic dysplasia. Some additional modality dependent features may also be visible.</p><h5>CT</h5><p>In addition to enlarged lateral ventricles with an absent septum pellucidum, CT may demonstrate small optic apparatus (best seen with volumetric scanning and coronal reformats) and associated small bony optic foramina.</p><h5>MRI</h5><p>MRI is the modality of choice for assessing septo-optic dysplasia.</p><ul>-<li><p>may show a "point down" appearance of the lateral ventricular frontal horns on coronal images</p></li>-<li><p>absent septum pellucidum</p></li>-<li><p>hypoplastic pituitary stalk</p></li>-<li><p>hypoplastic optic chiasm/optic nerves and globes</p></li>-</ul><h4>Treatment and prognosis</h4><p>The management of septo-optic dysplasia requires a multidisciplinary team to assess and treat for hormonal imbalance, loss of vision, autism and <a href="/articles/obesity">obesity</a> <sup>9</sup>.</p><h4>History and etymology</h4><p>Septo-optic dysplasia was first described by <strong>George de Morsier</strong> (1894-1982), Swiss neurologist in 1956 <sup>6,7</sup>.</p><h4>Differential diagnosis</h4><p>Consider</p><ul><li>-<p><a href="/articles/lobar-holoprosencephaly">lobar holoprosencephaly</a>:</p>-<ul>-<li><p>may not be able to be differentiated <sup>8</sup></p></li>-<li><p>anterior cerebral artery will have its course shifted anteriorly in lobar holoprosencephaly (sign described on prenatal ultrasound also, midline sagittal view with colour Doppler)</p></li>-<li><p>optic chiasm is not expected to be hypoplastic</p></li>-</ul>- +<p><strong>Septo-optic dysplasia (SOD)</strong>, also known as <strong>de Morsier syndrome</strong>, is a condition characterised by <a href="/articles/optic-nerve-hypoplasia">optic nerve hypoplasia</a> and <a href="/articles/absence-of-septum-pellucidum">absence of the septum pellucidum</a> and, in two-thirds of patients <a href="/articles/hypothalamic-pituitary-dysfunction">hypothalamic-pituitary dysfunction</a>. It is best thought of as being part of the <a href="/articles/holoprosencephaly">holoprosencephaly</a> spectrum (see <a href="/articles/classification-system-for-midline-abnormalities-of-the-brain-and-skull">classification system for midline malformations</a>).</p><h4>Epidemiology</h4><p>Septo-optic dysplasia has an estimated prevalence of ~1:50,000. There is no recognised gender predilection.</p><h5>Risk factors</h5><p>A number of risk factors have been identified <sup>8,9</sup>:</p><ul>
- +<li><p>maternal diabetes</p></li>
- +<li>
- +<p>medications</p>
- +<ul>
- +<li><p>quinidine ingestion</p></li>
- +<li><p>antiepileptics</p></li>
- +</ul>
- +</li>
- +<li><p>drug and alcohol abuse</p></li>
- +<li><p>cytomegalovirus infection</p></li>
- +</ul><h4>Clinical presentation</h4><p>Clinical presentation of septo-optic dysplasia is varied and mostly dependent on whether or not it is associated with <a href="/articles/schizencephaly">schizencephaly</a> (~50% of cases). This association is used to define two forms of the condition <sup>1,8</sup>:</p><ul>
- +<li>
- +<p>not associated with schizencephaly</p>
- +<ul>
- +<li><p>visual apparatus more severely affected</p></li>
- +<li><p>hypothalamic-pituitary dysfunction present in 60-80% of patients <sup>6,8</sup></p></li>
- +<li><p>may present as hypoglycaemia in the neonatal period<sup> 6</sup></p></li>
- +<li><p>small <a href="/articles/pituitary-gland">pituitary gland</a> with hypoplastic or absent infundibulum and <a href="/articles/ectopic-posterior-pituitary">ectopic posterior pituitary</a> seen as a focus of T1 high signal intensity in the median eminence of <a href="/articles/hypothalamus">hypothalamus</a></p></li>
- +<li><p><a href="/articles/olfactory-nerve">olfactory bulbs</a> may be absent (<a href="/articles/arhinencephaly" title="Arhinencephaly">arhinencephaly</a>) <sup>8</sup></p></li>
- +</ul>
- +</li>
- +<li>
- +<p>associated with <a href="/articles/schizencephaly">schizencephaly</a></p>
- +<ul>
- +<li><p>optic apparatus less severely affected</p></li>
- +<li><p>cortical anomalies: <a href="/articles/polymicrogyria">polymicrogyria</a>, <a href="/articles/focal-cortical-dysplasia">cortical dysplasia</a></p></li>
- +<li><p>may be aetiologically different <sup>8</sup></p></li>
- +<li><p>sometimes referred to as <strong>septo-optic dysplasia plus</strong> <sup>8</sup></p></li>
- +</ul>
- +</li>
- +</ul><p>In addition, a number of other associations are recognised including:</p><ul>
- +<li><p><a href="/articles/rhombencephalosynapsis">rhombencephalosynapsis</a> <sup>6</sup></p></li>
- +<li><p><a href="/articles/chiari-ii-malformation">Chiari II malformation</a> <sup>8</sup></p></li>
- +<li><p><a href="/articles/aqueduct-stenosis">aqueductal stenosis</a><sup> 8</sup></p></li>
- +</ul><h4>Pathology</h4><p>The abnormality develops during 4<sup>th</sup>-6<sup>th </sup>weeks of gestation, during early <a href="/articles/prosencephalon">forebrain </a>development. The exact aetiology is unknown, with an underlying genetic defect currently accounting for <1% of cases <sup>9</sup>.</p><h4>Radiographic features</h4><p>All imaging modalities that can visualise the septum pellucidum (ultrasound, CT and MRI) will detect its absence in septo-optic dysplasia. Some additional modality dependent features may also be visible.</p><h5>CT</h5><p>In addition to enlarged lateral ventricles with an absent septum pellucidum, CT may demonstrate small optic apparatus (best seen with volumetric scanning and coronal reformats) and associated small bony optic foramina.</p><h5>MRI</h5><p>MRI is the modality of choice for assessing septo-optic dysplasia.</p><ul>
- +<li><p>may show a "point down" appearance of the lateral ventricular frontal horns on coronal images</p></li>
- +<li><p>absent septum pellucidum</p></li>
- +<li><p>hypoplastic pituitary stalk</p></li>
- +<li><p>hypoplastic optic chiasm/optic nerves and globes</p></li>
- +</ul><h4>Treatment and prognosis</h4><p>The management of septo-optic dysplasia requires a multidisciplinary team to assess and treat for hormonal imbalance, loss of vision, autism and <a href="/articles/obesity">obesity</a> <sup>9</sup>.</p><h4>History and etymology</h4><p>Septo-optic dysplasia was first described by <strong>George de Morsier</strong> (1894-1982), Swiss neurologist in 1956 <sup>6,7</sup>.</p><h4>Differential diagnosis</h4><p>Consider</p><ul><li>
- +<p><a href="/articles/lobar-holoprosencephaly">lobar holoprosencephaly</a>:</p>
- +<ul>
- +<li><p>may not be able to be differentiated <sup>8</sup></p></li>
- +<li><p>anterior cerebral artery will have its course shifted anteriorly in lobar holoprosencephaly (sign described on prenatal ultrasound also, midline sagittal view with colour Doppler)</p></li>
- +<li><p>optic chiasm is not expected to be hypoplastic</p></li>
- +</ul>
Image 13 CT (C+ delayed) ( create )
Image 14 CT (C+ delayed) ( create )
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