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.

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.

Midline Astrocytic Tumors in Children: A Retrospective Study of 152 Cases

2020 ◽  
Author(s):  
Hanuman Prasad ◽  
Raj Kumar ◽  
Mohd Faheem
Keyword(s):  
Optic Nerve ◽  
Corpus Callosum ◽  
Brain Stem ◽  
Pineal Region ◽  
Septum Pellucidum ◽  
Low Grade ◽  
Astrocytic Tumors ◽  
Female Ratio ◽  
Mortality And Morbidity ◽  
Sanjay Gandhi Postgraduate Institute

AbstractThe aim of this study was to analyze the various midline structures having preponderance for astrocytoma, their incidence, clinical features, operative approach, prognosis, and outcomes in children. It is a retrospective analysis of 152 cases with midline astrocytic tumors in children admitted between January 1995 and December 2012 in the Department of Neurosurgery at Sanjay Gandhi Postgraduate Institute of Medical sciences Lucknow, India. The mean age of the cases with midline astrocytic tumors was 9.29 ± 4.56 years. Majority of these tumors occurred in the age group of 6 to 10 years (n = 58, 38.16%), with male to female ratio being 1.66:1. Out of 152 cases, tumors located at midline cerebellum constituted majority of the cases (n = 38, 25%) followed by brain stem (n = 28, 18.42%), thalamic region (n = 24, 15.79%), corpus callosum (n = 18, 11.82%), pineal region (n = 12, 7.89%), optic nerve (n = 12, 7.89%), chiasmo-hypothalamic (n = 10, 6.58%), and septum pellucidum astrocytomas (n = 10, 6.58%). Majority of these tumors were of low-grade type (n = 136, 89.47%), and pilocytic astrocytomas were the commonest subtypes. Out of 152 cases, 136 (89.47%) cases had improved outcomes, 8 (5.26%) remained as they were in preoperative state, and mortality was seen in 8 (5.26%) of the cases at 3 to 77 months (mean 26.70 ± 9.70) of follow-up. Midline structures having preponderance for astrocytomas were midline cerebellum, brain stem, thalamus, corpus callosum, pineal region, optic nerve, chiasmo-hypothalamic, and septum pellucidum. Cerebellum was the commonest site. Most of these astrocytomas were of low grade with pilocytic astrocytoma being the commonest subtype. With meticulous presurgical planning, most of these tumors have good outcome with significant reduction in mortality and morbidity.

High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia

2019 ◽  
Vol 108 (9) ◽  
pp. 1677-1685 ◽  
Author(s):  
Sara Dahl ◽  
Maria Kristoffersen Wiberg ◽  
Kristina Teär Fahnehjelm ◽  
Lars Sävendahl ◽  
Ronny Wickström
Keyword(s):  
Optic Nerve ◽  
Optic Nerve Hypoplasia ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
High Prevalence
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