|Year : 2020 | Volume
| Issue : 3 | Page : 328-329
Septo-optic dysplasia with cerebellar hemiagenesis
Arshed H Parry, Abdul H Wani
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu & Kashmir, India
|Date of Submission||08-Jun-2018|
|Date of Decision||04-Aug-2019|
|Date of Acceptance||25-May-2020|
|Date of Web Publication||06-Nov-2020|
Dr. Arshed H Parry
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir.
Source of Support: None, Conflict of Interest: None
| Abstract|| |
A 1-month-old girl child, who was found to have hydrocephalus on prenatal ultrasound, was postnatally evaluated with magnetic resonance imaging (MRI) of brain, which showed two classical findings of septo-optic dysplasia (SOD), namely optic nerve hypoplasia and absent septum pellucidum. In addition, the patient was found to have cerebellar hemiagenesis.
Keywords: Cerebellar hemiagenesis, corpus callosum, de Morsier syndrome, septo-optic dysplasia
|How to cite this article:|
Parry AH, Wani AH. Septo-optic dysplasia with cerebellar hemiagenesis. J Pediatr Neurosci 2020;15:328-9
| Case Study|| |
A 1-month-old girl child, who was diagnosed as having hydrocephalus on prenatal ultrasound, was followed up postnatally with magnetic resonance imaging (MRI) brain. MRI showed absent septum pellucidum, thinned out corpus callosum, dilated box-shaped lateral ventricles, and downward pointed frontal horns of lateral ventricles [Figure 1]. Left half of cerebellum was absent (hemiagenesis), and vermis was rudimentary [Figure 2]. Cerebral atrophy was also noted. Hypoplasia of left optic nerve was seen. However, optic chiasma was normal [Figure 3]. Fundus examination revealed hypoplastic left optic disc. On the basis of radiological findings of absence of septum pellucidum, hypoplasia of optic nerve, and thinning of corpus callosum with fundoscopic evidence of hypoplastic optic disc, diagnosis of septo-optic dysplasia was made.
|Figure 1: T2-weighted and T1-weighted MR images of brain show dilated lateral ventricles with absent septum pellucidum, downward pointed frontal horns, and thinned out corpus callosum (hollow black arrow)|
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|Figure 2: T2-weighted axial and T1-weighted axial MR images of brain reveal agenesis of left cerebellar hemisphere (hollow black arrow) with rudimentary vermis (arrow)|
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|Figure 3: Constructive interference steady state (CISS) MR images in coronal plane show hypoplastic left optic nerve (arrow) with normal optic chiasma (arrow)|
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Septo-optic dysplasia also referred to as de Morsier syndrome is a rare congenital malformation of the central nervous system. It is defined by varying combination of pituitary gland hypoplasia, optic pathway hypoplasia, and midline brain anomalies such as the absence of septum pellucidum, corpus callosum hypoplasia, or aplasia. Only 30% cases of septo-optic dysplasia present with the classical triad of absent septum pellucidum, optic pathway abnormality, and pituitary gland hypoplasia. It is an uncommon disorder with a reported incidence of 1 in 10,000 live births., Gestational maternal diabetes, drugs such as quinidine and antiepileptics, alcohol abuse, and cytomegalovirus infection have been proposed as the common risk factors. Among the major reported clinical findings, hypopituitarism is the dominant clinical finding seen in 62%–80% of the cases. Visual impairment and developmental delay are more severe in bilateral optic nerve hypoplasia than unilateral hypoplasia. Subnormal intelligence with difficulty in learning and communication is seen in many cases. Cerebellar hypoplasia or agenesis has not been reported till date, and this case of septo-optic dysplasia with cerebellar hemiagenesis is the first such reported case. Owing to the wide range of anatomical brain abnormalities, complex interplay between genetic and environmental factors has been proposed as the underlying etiopathological mechanism. Treatment of affected children consists mainly of hormone replenishment therapy with physical and mental rehabilitation.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]