424 THE CLINICAL SPECTRUM OP OPTIC NERVE HYPOPLASIA, HYPOPITUITARISM, AND 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.

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Septo-Optic Dysplasia: A Case Study

Neonatal Network The Journal of Neonatal Nursing ◽

10.1891/0730-0832.35.1.13 ◽

2016 ◽

Vol 35 (1) ◽

pp. 13-18 ◽

Cited By ~ 1

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.

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

JMS SKIMS ◽

10.33883/jms.v22i2.454 ◽

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.

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Optic Nerve Hypoplasia Associated with Absent Septum Pellucidum and Hypopituitarism

American Journal of Ophthalmology ◽

10.1016/0002-9394(80)90237-8 ◽

1980 ◽

Vol 89 (1) ◽

pp. 113-120 ◽

Cited By ~ 29

Author(s):

Wilma Krause-Brucker ◽

David W. Gardner

Keyword(s):

Optic Nerve ◽

Septum Pellucidum ◽

Optic Nerve Hypoplasia ◽

Absent Septum Pellucidum

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Spectrum of clinical presentations and endocrinological findings of patients with septo-optic dysplasia: a retrospective study

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2015-0008 ◽

2015 ◽

Vol 28 (9-10) ◽

Cited By ~ 15

Author(s):

Ayse Pinar Cemeroglu ◽

Tarin Coulas ◽

Lora Kleis

Keyword(s):

Optic Nerve ◽

Corpus Callosum ◽

Diagnostic Criteria ◽

Age Of Onset ◽

Tertiary Care ◽

Septum Pellucidum ◽

Optic Nerve Hypoplasia ◽

Screening Tests ◽

Hormone Deficiency ◽

Pituitary Dysfunction

Abstract: Septo-optic dysplasia (SOD) is a rare condition with variable clinical pictures and spectrum of findings.: To analyze the spectrum of findings, frequency and age of onset of hypothalamic-pituitary dysfunctions in children with SOD.A retrospective electronic medical record (EMR) chart review was done for patients with SOD seen in a tertiary care center’s pediatric endocrinology clinic between January 1, 2012, and March 31, 2014. The diagnostic criteria for SOD included presence of ≥2 of the following: (i) optic nerve hypoplasia, (ii) agenesis/hypoplasia of septum pellucidum and/or corpus callosum and (iii) hypothalamic-pituitary dysfunction.Eighty patients fitting the diagnostic criteria of SOD were included in this study. The majority of patients (96%) had optic nerve hypoplasia on magnetic resonance imaging and were diagnosed due to visual issues including nystagmus (36%) or strabismus (13.8%). Hypothalamic-pituitary dysfunction was most common (51%) when optic nerve hypoplasia was present with (36%) or without (15%) dysgenesis of septum pellucidum and/or corpus callosum compared to dysgenesis of septum pellucidum and/or corpus callosum alone (4%). Hypothalamic-pituitary dysfunction was noted in 55% of patients, and most (86%) were diagnosed ≤2 years of age. Central hypothyroidism and growth hormone deficiency were most common followed by secondary/tertiary adrenal insufficiency and diabetes insipidus.: The risk of hypothalamic-pituitary dysfunction in SOD is highest ≤2 years of age and when both optic nerve hypoplasia and dysgenesis of septum pellucidum/corpus callosum are present, suggesting a need for more frequent follow-up and screening tests for hypothalamic-pituitary dysfunction in these patients.

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Septo-optic dysplasia with amniotic band syndrome sequence: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-019-2306-2 ◽

2019 ◽

Vol 13 (1) ◽

Cited By ~ 1

Author(s):

Insiyah A. Amiji ◽

Ummulkheir H. Mohamed ◽

Adelina G. Rutashobya ◽

Mariam Mngoya ◽

Nicole Schoenmann ◽

...

Keyword(s):

Optic Nerve ◽

Septum Pellucidum ◽

Optic Nerve Hypoplasia ◽

Endocrine Function ◽

Diagnostic Challenge ◽

Amniotic Band ◽

Amniotic Band Syndrome ◽

Talipes Equinovarus ◽

De Morsier Syndrome ◽

Clinical Triad

Abstract Introduction De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum pellucidum and corpus callosum dysgenesis. Diagnosis is made clinically by the presence of any two or more features from the clinical triad. Case presentation We report a case of a premature African newborn male baby born to nonconsanguineous parents who presented to our institution with agenesis of the septum pellucidum, unilateral optic nerve hypoplasia, and pituitary stalk hypoplasia. However, he had intact central endocrine function. He also presented with limb defects due to constricting amniotic band syndrome. Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal neurological examination result. Over time, he had an adequate weight gain and was managed by a multidisciplinary team. Conclusion De Morsier syndrome still represents a diagnostic challenge, despite advances in neuroimaging and genetic studies, due to the heterogeneous nature of the disorder. This case adds to existing knowledge on the vascular pathogenesis of septo-optic dysplasia.

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