Basal encephalocele associated with morning glory syndrome: case report

Minotto, Ivanete; Abdala, Nitamar; Siviero-Miachon, Adriana Aparecida; Castro, Ângela Maria Spínola e; Imamura, Paulo M.; Nogueira, Roberto Gomes

doi:10.1590/s0004-282x2007000600013

Cited by 13 publications

(7 citation statements)

References 15 publications

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“…Intraorbital findings in our patients, including retinal detachment, are in line with previously reported cases. 2,3,6 Extraorbital abnormalities were also reported, including a wide spectrum of vascular abnormalities, 7 posterior pituitary ectopia, 8 midline facial defects, basal encephalocele, 9 and abnormalities of the visual pathways too, the latter consistent with our observation of optic nerve/chiasm thickening. 2,10,11 Ceynowa et al 10 and Ellika et al 2 reported one case each of bulging of the prechiasmatic segment of the ipsilateral optic nerve, without specifying if gadolinium enhancement was present at that site, and referred these features to a probable optic nerve glioma.…”

Section: Discussionsupporting

confidence: 89%

Morning Glory Disc Anomaly Associated with Ipsilateral Optic Nerve and Chiasm Thickening: Three Cases and Review of the Literature

et al. 2017

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Several extraorbital findings have been described in morning glory disc anomaly (MGDA), including optic pathway abnormalities. We want to emphasize the importance of looking for ipsilateral optic nerve and chiasm thickening in MGDA-affected patients because we think that it may be a relevant common associated finding to date not stressed by anyone. We report three cases of clinically diagnosed unilateral MGDA in which magnetic resonance imaging revealed enlargement of the ipsilateral optic nerve and chiasm. A literature analysis was made and previously reported MGDA cases, and case series were checked, looking for described, or misunderstood similar magnetic resonance imaging findings. Three other cases with very similar prechiasmatic optic nerve and chiasm findings were identified from the literature. Two further cases are discussed as possibly characterized by similar misinterpreted magnetic resonance features. Our study broadens the constellation of intra- and extraorbital findings of MGDA. Though magnetic resonance imaging is not sufficient to determine the neuropathological substrate of this finding, clinicians and radiologists should be aware of the possible association of MGDA with ipsilateral thickening of the optic nerve and chiasm, to properly plan the clinical and imaging follow-up. © 2017 Georg Thieme Verlag KG Stuttgart.New York

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Section: Discussionsupporting

confidence: 89%

Morning Glory Disc Anomaly Associated with Ipsilateral Optic Nerve and Chiasm Thickening: Three Cases and Review of the Literature

et al. 2017

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“…There have been also case reports of miscellaneous associations with MGS, such as hypertelorism, cleft lip and palate, renal anomalies, corpus callosum agenesis, and encephaloceles [22,26]. Our case is unique because this is the first reported case of DS with MGS in literature.…”

Section: Discussionmentioning

confidence: 71%

“…The two likely sources of serous fluid are the cerebrospinal fluid [21] or the vitreous cavity, [22] and tractional forces may have a contribution [23]. Sclera or retinal deficiency may let the fluid leak under the retina.…”

Section: Discussionmentioning

confidence: 99%

Unilateral morning glory optic disc anomaly in a case with Down syndrome

Altun

Kurna

et al. 2014

BMC Ophthalmol

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BackgroundThis case is unique because it is the first reported case of Down syndrome with morning glory optic disc anomaly in literature.Case presentationA 15-year-old girl with features of Down syndrome presented to the Clinic of Ophthalmology for a regular ophthalmologic examination. Her best corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. The fundus examination revealed findings compatible with unilateral morning glory optic disc anomaly in the right eye. The patient underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings.ConclusionThis case report emphasizes the importance of ophthalmic screening-examinations in Down children to rule out any vision relevant pathology.

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“…MGS can be associated with basal encephalocele and hypopituitarism. Basal (meningo) encephalocele is an sporadic and occult malformation, described in 67,7% of MGS patients, usually associated with midline defects, such as cleft palate and corpus callosum agenesis, optic disc and other brain anomalies, and hormonal disturbance (2)(3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency

Guerra‐Júnior

Spinola-Castro

Siviero-Miachon

et al. 2008

Arq Bras Endocrinol Metab

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Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone defi ciency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone defi ciency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identifi ed along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.

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Basal encephalocele associated with morning glory syndrome: case report

Cited by 13 publications

References 15 publications

Morning Glory Disc Anomaly Associated with Ipsilateral Optic Nerve and Chiasm Thickening: Three Cases and Review of the Literature

Morning Glory Disc Anomaly Associated with Ipsilateral Optic Nerve and Chiasm Thickening: Three Cases and Review of the Literature

Unilateral morning glory optic disc anomaly in a case with Down syndrome

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency

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