Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

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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Apert syndrome: Cranial procedures and brain malformations in a series of patients

Surgical Neurology International ◽

10.25259/sni_413_2020 ◽

2020 ◽

Vol 11 ◽

pp. 361

Author(s):

Pablo M. Munarriz ◽

Beatriz Pascual ◽

Ana M. Castaño-Leon ◽

Ignacio García-Recuero ◽

Marta Redondo ◽

...

Keyword(s):

Corpus Callosum ◽

Chiari Malformation ◽

Septum Pellucidum ◽

Cranial Vault ◽

Apert Syndrome ◽

Published Data ◽

Syndromic Craniosynostosis ◽

Brain Malformations

Background: Apert syndrome is one of the most severe craniofacial disorders. This study aims to describe the craniofacial surgeries and central nervous system malformations of a cohort of children with Apert syndrome treated in the past 20 years and to compare these data with previously published data. Methods: Retrospective analysis of a series of patients with Apert syndrome treated between 1999 and 2019 in our hospital. Information was analyzed regarding craniofacial procedures, hydrocephalus and presence of shunts, Chiari malformation Type 1, and other brain malformations such as corpus callosum and septum pellucidum anomalies. Results: Thirty-seven patients were studied. Ventriculoperitoneal shunt prevalence was 24.3%, and 8.1% of patients required decompressive surgery for Chiari malformation. All of them needed at least one cranial vault remodeling procedure. The median age for this procedure was 8 months. In 69.7% of patients, the first cranial vault intervention was performed in the fronto-orbital region. In 36.4% of patients, a midface advancement had been performed at the time of this review, although this proportion was very dependent on the follow-up period and the age of the patients. The median age for the midface advancement procedure was 5.25 years. Anomalies of the corpus callosum and the septum pellucidum were reported in 43.2% and 59.5% of patients, respectively. Conclusion: Apert syndrome is a type of syndromic craniosynostosis, and patients usually require one or more cranial and facial surgeries. In comparison with other syndromic craniosynostosis types, Apert syndrome less frequently requires a VP shunt or treatment for a Chiari malformation.

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A case of prenatal diagnosis of corpus callosum lipoma

10.21516/2413-1458-2020-19-2-158-162 ◽

2020 ◽

Author(s):

A.I. Zamiatina, M.V. Medvedev

Keyword(s):

Magnetic Resonance Imaging ◽

Blood Flow ◽

Prenatal Diagnosis ◽

Magnetic Resonance ◽

Corpus Callosum ◽

Color Doppler ◽

Septum Pellucidum ◽

Resonance Imaging

A case of prenatal diagnosis of the corpus callosum lipoma at 32–33 weeks of gestation is presented. In a consultative examination, a hyperechoic formation with clear contours was found in the projection of the septum pellucidum, occupying the rostrum, genu, and truncus of corpus callosum, without signs of intratumorally blood flow in the color Doppler mapping mode. The prenatal diagnosis of "callosum lipoma" was established, confirmed after the birth of a child during magnetic resonance imaging.

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Developmental disorders of the brain

Oxford Textbook of Neurological Surgery ◽

10.1093/med/9780198746706.003.0084 ◽

2019 ◽

pp. 971-982

Author(s):

Colin Ferrie ◽

Daniel Warren ◽

Atul Tyagi

Keyword(s):

Clinical Practice ◽

Corpus Callosum ◽

Developmental Disorders ◽

Clinical Implications ◽

Brain Malformations ◽

Genetic Abnormalities ◽

Genetic Mechanisms ◽

Posterior Fossa Malformations ◽

And Migration ◽

The Brain

Prenatal and postnatal development of the brain is controlled by a multiplicity of genetic mechanisms. Genetic abnormalities and environmental insults are responsible for a bewildering array of developmental disorders associated with brain malformations. Classic embryology remains key to understanding these, and an appreciation of the processes of gastrulation, dorsal and ventral induction, neuronal differentiation, proliferation, histogenesis, and migration and myelination will help the neurosurgeon understand the conditions likely to be encountered in clinical practice. In this chapter the more common and many less common brain malformations are reviewed. These include anencephaly, holoprosencephaly, septo-optic dysplasia, schizencephaly, grey matter heterotopias, lissencephaly/pachygyria, polymicrogyria, porencephaly, developmental anomalies of the corpus callosum, microcephaly, hemimegalencephaly, and posterior fossa malformations. The emphasis is on promoting an understanding of concepts and on clinical implications, rather than on imparting detail.

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E. Vom Septum Pellucidum und Corpus Callosum Ausgehende Tumoren

Acta Radiologica ◽

10.3109/00016923509176445 ◽

1935 ◽

Vol 16 (sup25) ◽

pp. 187-197

Keyword(s):

Corpus Callosum ◽

Septum Pellucidum

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A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum

Prenatal Diagnosis ◽

10.1002/pd.955 ◽

2004 ◽

Vol 24 (8) ◽

pp. 635-637 ◽

Cited By ~ 8

Author(s):

José Delcán ◽

María Orera ◽

Rafael Linares ◽

Dolores Saavedra ◽

Angustias Palomar

Keyword(s):

Corpus Callosum ◽

Ring Chromosome ◽

Septum Pellucidum ◽

Chromosome 22

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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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