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

2019 ◽  
Vol 13 (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.

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.

scholarly journals Septo-optic dysplasia

2010 ◽  
Vol 68 (3) ◽  
pp. 400-405 ◽  
Author(s):  
Karina de Ferran ◽  
Isla Aguiar Paiva ◽  
Daniel Luiz Schueftan Gilban ◽  
Monique Resende ◽  
Micheline Abreu Rayol de Souza ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Thyroid Stimulating Hormone ◽  
Empty Sella ◽  
Optic Nerve Hypoplasia ◽  
Brain Abnormalities ◽  
Development Delay ◽  
Congenital Condition ◽  
Pituitary Hypoplasia ◽  
De Morsier Syndrome ◽  
Congenital Hypopituitarism

Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent stalk (3/5) and empty sella (1/5). We also encountered diverse pituitary deficiencies: growth hormone (3/5), adrenocorticotropic hormone (3/5), thyroid-stimulating hormone (2/5) and antidiuretic hormone (1/5). Only one child presented intact pituitary function and anatomy. Although rare, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment.

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

2015 ◽  
Vol 28 (9-10) ◽  
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.

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.

Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia

1984 ◽  
Vol 107 (2) ◽  
pp. 282-288 ◽  
Author(s):  
S. A. Arslanian ◽  
W. E. Rothfus ◽  
T. P. Foley ◽  
D. J. Becker
Keyword(s):  
Growth Hormone ◽  
Optic Nerve ◽  
Physical Examination ◽  
Diabetes Insipidus ◽  
Thyroid Stimulating Hormone ◽  
Septum Pellucidum ◽  
Endocrine Function ◽  
Adrenocorticotrophic Hormone ◽  
High Incidence ◽  
Endocrine Features

Abstract. The clinical, neuroradiologic, and endocrine features in 16 patients with septo-optic dysplasia are reviewed. All of the patients had clinical optic nerve hypoplasia with varying degrees of nystagmus and visual impairment. Only one-half of the patients had absence of the septum pellucidum. Fourteen children were growth hormone deficient, 9 were adrenocorticotrophic hormone deficient, 3 were thyroid-stimulating hormone deficient, and 4 had diabetes insipidus. In most instances, the diagnosis of septo-optic dysplasia can be established by physical examination and neuroradiologic findings, at which point a thorough evaluation of the hypothalamicpituitary endocrine function is indicated because of the high incidence of hypopituitarism with this syndrome.

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