OP07.08: Absent septum pellucidum. Associated anomalies and clinical findings in 10 cases

2009 ◽  
Vol 34 (S1) ◽  
pp. 83-84
Author(s):  
M. Albig ◽  
A. Hagen ◽  
R. H. Becker ◽  
A. Gasiorek-Wiens ◽  
M. Entezami
Keyword(s):  
Clinical Findings ◽  
Septum Pellucidum ◽  
Associated Anomalies ◽  
Absent Septum Pellucidum

scholarly journals Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia

2017 ◽  
Vol 88 (3-4) ◽  
pp. 251-257 ◽  
Author(s):  
Pamela Garcia-Filion ◽  
Hashem Almarzouki ◽  
Cassandra Fink ◽  
Mitchell Geffner ◽  
Marvin Nelson ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Corpus Callosum ◽  
Predictive Value ◽  
Brain Mri ◽  
Septum Pellucidum ◽  
Optic Nerve Hypoplasia ◽  
Major Malformation ◽  
Predictive Values ◽  
Brain Malformations ◽  
Absent Septum Pellucidum

Background: Optic nerve hypoplasia (ONH), a leading cause of pediatric blindness, is associated with brain malformations and hypopituitarism in the constellation known as septo-optic dysplasia. Neuroimaging is used to anticipate hypopituitarism, but with unconfirmed reliability. We report prospective findings on the association of hypopituitarism with brain malformations. Methods: Children (<24 months) with ONH (n = 146; 87% bilateral) underwent baseline MRI and annual examinations and hormonal testing. Hypopituitarism status at age 5 years was classified. Results: A total of 74% had brain malformation(s). Hypopituitarism (69%) was not associated with brain malformations (p = 0.351); this persisted after adjusting for the laterality of ONH and the timing of MRI (padj = 0.869). No association was noted for absent septum pellucidum (38%; p = 0.073), corpus callosum abnormality (51%; p = 0.625), and major malformations (22%; p = 0.407). A malformation conferred a positive predictive value of 71% (95% CI: 62%, 80%), and a negative predictive value of 37% (95% CI: 22%, 54%). Overall, 10% (n = 15) of the cohort presented with a triad of absent septum pellucidum, corpus callosum abnormality, and other major malformation; only half (n = 8) of these had hypopituitarism. All 13 subjects with pituitary malformations manifested hypopituitarism, conferring predictive values of 100% (positive) and 34% (negative). Conclusions: Hypopituitarism and brain malformations are highly prevalent, but have unrelated associations with ONH. Brain MRI in infants and toddlers with ONH is an unreliable screen for hypopituitarism risk.

Differential diagnosis in fetuses with absent septum pellucidum

2004 ◽  
Vol 25 (1) ◽  
pp. 42-49 ◽  
Author(s):  
G. Malinger ◽  
D. Lev ◽  
D. Kidron ◽  
F. Heredia ◽  
R. Hershkovitz ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Septum Pellucidum ◽  
Absent Septum Pellucidum

Septo-Optic Dysplasia: A Case Study

2016 ◽  
Vol 35 (1) ◽  
pp. 13-18 ◽  
Author(s):  
Jamie M. Musgrove ◽  
Cheryl Riley
Keyword(s):  
Optic Nerve ◽  
Clinical Presentation ◽  
Septum Pellucidum ◽  
Optic Nerve Hypoplasia ◽  
Pituitary Hormone ◽  
Diagnosis And Management ◽  
Classic Triad ◽  
Absent Septum Pellucidum ◽  
De Morsier Syndrome

AbstractSepto-optic dysplasia (SOD) is a rare congenital heterogeneous malformation. SOD was formerly known as de Morsier syndrome, which associated a midline brain defect such as an absent septum pellucidum with optic nerve hypoplasia. The diagnosis of SOD is made when there are two or more characteristics of the classic triad. The triad consists of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects, although it can vary in the severity of clinical presentation and phenotype. The purpose of this article is to review a case and analyze the literature regarding prevalence, etiology, clinical presentation, diagnosis, and management of SOD.

SEPTO-OPTIC DYSPLASIA: THE CLINICAL INSIGNIFICANCE OF AN ABSENT SEPTUM PELLUCIDUM

2008 ◽  
Vol 35 (6) ◽  
pp. 490-501 ◽  
Author(s):  
Jane Williams ◽  
Michael C. Brodsky ◽  
May Griebel ◽  
Charles M. Glasier ◽  
Diana Caldwell ◽  
...  
Keyword(s):  
Septum Pellucidum ◽  
Absent Septum Pellucidum

Bickers-Adams syndrome with absent septum pellucidum – A case report

2015 ◽  
Vol 03 (03) ◽  
pp. 127-131
Author(s):  
Kaushani Chatterjee ◽  
Jayitri Majumdar ◽  
Nirmalya Sarkar ◽  
Bholanath Aich ◽  
Sudhanshu Jana ◽  
...  
Keyword(s):  
Case Report ◽  
Septum Pellucidum ◽  
Absent Septum Pellucidum

scholarly journals Septo-optic dysplasia with cerebellar hemiagenesis - a rare congenital malformation.

JMS SKIMS ◽  
2019 ◽  
Vol 22 (2) ◽  
Author(s):  
Arshed Hussain Parry ◽  
Abdul Haseeb Wani ◽  
Tariq A. Gojwari ◽  
Feroze A. Shaheen
Keyword(s):  
Congenital Anomaly ◽  
Central Nervous System ◽  
Nervous System ◽  
Optic Nerve ◽  
Congenital Malformation ◽  
Septum Pellucidum ◽  
Clinical Spectrum ◽  
The Central Nervous System ◽  
Pituitary Hypoplasia ◽  
Absent Septum Pellucidum

Septo-optic dysplasia (De morsier’s syndrome) is a rare congenital malformation of the central nervous system and represents a clinical spectrum rather than a specific entity. It is defined by any combination of pituitary hypoplasia with or without consequent panhypopituitarism,optic nerve hypoplasia and midline neurological abnormalities such as absent septum pellucidum and corpus collasum agenesis or thinning. Septo-optic dysplasia with associated cerebellar hemiagenesis is a much rarer congenital anomaly and may represent one end of this spectrum.

Outcome of Isolated Absent Septum Pellucidum Diagnosed by Fetal Magnetic Resonance Imaging (MRI) Scan

2018 ◽  
Vol 33 (11) ◽  
pp. 693-699 ◽  
Author(s):  
Marissa M. Vawter-Lee ◽  
Halley Wasserman ◽  
Cameron W. Thomas ◽  
Beatrice Nichols ◽  
Usha D. Nagaraj ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Septum Pellucidum ◽  
Resonance Imaging ◽  
Fetal Magnetic Resonance Imaging ◽  
Mri Scan ◽  
Fetal Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Absent Septum Pellucidum

Improved fetal imaging has resulted in increased diagnosis of isolated absent septum pellucidum without other intracranial abnormalities. There is little literature regarding outcomes for these fetuses. This study hypothesized the majority of infants diagnosed by fetal magnetic resonance imaging (MRI) with isolated absent septum pellucidum would retain this diagnosis postnatally. Specifically, in the absence of postnatal endocrine or ophthalmologic abnormalities, postnatal imaging would find no additional related findings, and fetuses would be at low risk for developmental delay. Two of 8 subjects met postnatal criteria for septo-optic dysplasia; remaining subjects had normal postnatal endocrine and ophthalmologic evaluations and no significant related findings on postnatal MRI. One subject without septo-optic dysplasia had delays on developmental screening; all others had normal screening (range of follow-up 8-72 months). Our study questions the necessity of postnatal imaging for prenatally diagnosed isolated absent septum pellucidum. Majority of fetuses with isolated absent septum pellucidum retained this diagnosis postnatally.

scholarly journals Ocular manifestations of de-Morsiers syndrome

2020 ◽  
Vol 7 (12) ◽  
pp. 2429
Author(s):  
Priyanka Arora ◽  
Kamaldeep Arora ◽  
Shubhneek K. D. Utaal ◽  
Sumeet Chopra
Keyword(s):  
Optic Disc ◽  
Anterior Segment ◽  
Septum Pellucidum ◽  
Fundus Examination ◽  
Resonance Imaging ◽  
Serum Growth Hormone ◽  
Mri Brain ◽  
Ocular Manifestations ◽  
Magnetic Resonance Imaging Mri ◽  
Absent Septum Pellucidum

A two-year old male child presented to the ophthalmology outpatient department (OPD) with parents complaining of child’s inability to make an eye contact. On examination, the patient had horizontal manifest nystagmus with no fixing and following. The pupillary reactions and the anterior segment examination were normal. Fundus examination in both eyes revealed small optic disc with 360 degree hyperpigmented ring in both the eyes (Figure 1 A and B). The macula was >2 disc diameter (DD) in distance from optic disc, suggestive of optic nerve hypoplasia. Magnetic resonance imaging (MRI) brain showed absent septum pellucidum (Figure 1 C and D). Serum growth hormone levels were significantly high. Based on the examination and investigations, diagnosis of de Morsier’s syndrome was made.

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