Basal encephaloceles with morning glory syndrome, and progressive hormonal and visual disturbances: case report and review of the literature

Morioka, Motohiro; Marubayashi, Toru; Masumitsu, Tsutomu; Miura, Masaki; Ushio, Yukitaka

doi:10.1016/0387-7604(95)00021-3

Cited by 60 publications

(45 citation statements)

References 18 publications

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“…4 MGDA has been reported to be associated with other ocular anomalies and numerous intracranial abnormalities including midline craniofacial and skull base defects, vascular abnormalities, and cerebral malformations. 1,3,[5][6][7][8][9][10][11][12][13][14] Establishing the correct diagnosis of MGDA guides appropriate ophthalmic management and should also prompt a search for associated intracranial abnormalities. 4 Although the diagnosis of MGDA is typically made clinically, imaging may provide added value in several ways.…”

mentioning

confidence: 99%

Morning Glory Disc Anomaly: Characteristic MR Imaging Findings

Ellika¹,

Robson²,

Heidary

et al. 2013

AJNR Am J Neuroradiol

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SUMMARY:Establishing the diagnosis of morning glory disc anomaly is crucial to appropriate patient treatment. Although typically made clinically, the diagnosis is not always straightforward, especially in circumstances where physical examination is limited. The goal of this study was to define the spectrum and frequency of orbital findings in a series of patients with funduscopically-confirmed morning glory disc anomaly by using MR imaging. MR imaging demonstrated 3 findings in all patients: 1) funnel-shaped morphologic pattern of the posterior optic disc with elevation of the adjacent retinal surface; 2) abnormal tissue associated with the distal intraorbital segment of the ipsilateral optic nerve, with effacement of the regional subarachnoid spaces; and 3) discontinuity of the uveoscleral coat. These findings were not observed in any of the unaffected globes of the study patients. In summary, these consistent and characteristic findings of morning glory disc anomaly should allow for accurate differentiation from other ocular anomalies and have the potential to guide appropriate management of this patient population. ABBREVIATIONS:MGDA ϭ morning glory disc anomaly

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mentioning

confidence: 99%

Morning Glory Disc Anomaly: Characteristic MR Imaging Findings

Ellika¹,

Robson²,

Heidary

et al. 2013

AJNR Am J Neuroradiol

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“…Reports on sex ratio have been controversial, but some authors consider MGS to be more commom in females (10,11). Nevertheless all patients studied in the present paper were males.…”

Section: Discussionmentioning

confidence: 46%

“…Most cases of MGS are considered as isolated ocular abnormalities, but other malformations of the skull, facial, mainly midline defects, and central nervous system may occur (13). Associations with genetic syndromes and systemic diseases, including growth hormone defi ciency have also been reported (10,11). The hormonal defi ciency described in the other reported cases is usually secondary to the compression of the pituitary gland by basal encephaloceles (14,15), but the natural course of the hypothalamic-pituitary dysfunction is at present still unclear.…”

Section: Discussionmentioning

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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“…Hastalarda beslenme zorluğu, BOS rinoresi, solunum yetmezliği, tekrarlayan menenjit atakları ve bizim olgumuzdaki gibi endokrin anomaliler bulunabilir. Transsellar transsfenoidal ensefaloselde, sella tursika tabanında defekt mevcut olup hipofiz bezinin ensefalosel kesesi tarafından basılanmasına bağlı bizim olgumuzdaki gibi hipotalamo-hipofizer fonksiyonlarda bozulma ve endokrin anomaliler yaklaşık %50-60 oranında görülür [5]. Endokrin anomaliler arasında hipotiroidi, hipogonadotropik hipogonadizm, diabetes insipidus ve bizim olgumuzdaki gibi BH eksikliği görülmektedir.…”

Section: Olgu Sunumuunclassified

Transsellar Transsphenoidal Encephalocele: MRI Features

Ufuk¹,

Herek²,

Kaya³

et al. 2014

Pau Med J

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ÖzetTranssfenoidal ensefalosel, en nadir görülen ensefalosel şekli olup sfenoid kemik defektinden ependimal doku ile kaplı bir kese içerisinde beyin omurilik sıvısı ve nörovasküler dokunun fıtıklaşmasıdır. Bu makalede transsellar transsfenoidal ensefaloselli bir olgu sunularak hastalığın önemli klinik özellikleri ve tanısal görüntüleme bulguları gözden geçirilmiştir. Pam Tıp Derg 2014;7(3):250-252Anahtar sözcükler: Bazal ensefalosel, manyetik rezonans görüntüleme, transsellar transsfenoidal ensefalosel, büyüme geriliği. AbstractTranssphenoidal encephalocele, the rarest variety of encephaloceles, is a congenital anomaly that consists of herniation through a sphenoidal bony defect of a sac filled with cerebrospinal fluid and containing neural vascular tissue. We report a rare case of transsellar transsphenoidal encephalocele and highlight important clinical aspects and diagnostic imaging findings.Pam Med J 2014;7(3):250-252

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Basal encephaloceles with morning glory syndrome, and progressive hormonal and visual disturbances: case report and review of the literature

Cited by 60 publications

References 18 publications

Morning Glory Disc Anomaly: Characteristic MR Imaging Findings

Morning Glory Disc Anomaly: Characteristic MR Imaging Findings

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

Transsellar Transsphenoidal Encephalocele: MRI Features

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