A Non-midline Spheno-orbital Encephalocele in a Newborn

Knopp, U.; Knopp, Aaron; Stellmacher, Florian; Reusche, E.; Löning, M.; Kantelhardt, Sven R.; Domarus, Helmut von; Arnold, H.; Giese, Arnd

doi:10.1055/s-0028-1082321

Cited by 10 publications

(8 citation statements)

References 26 publications

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“…5,8 The advantage of MRI in this context is the lack of radiation exposure, ability to reliably exclude an orbital encephalocele, and to differentiate blood at different stages of degradation. 6,8,15,16 Orbital ultrasound has been employed in two cases as initial imaging modality in one and for follow-up in the second case, but no images have been provided. 2,3 Reported ultrasonographic features include a well-demarcated homogenous retroorbital mass with low to medium reflectivity and sound attenuation and absence of calcification.…”

Section: Discussionmentioning

confidence: 99%

Orbital Subperiosteal Hematoma in the Newborn Causing Unilateral Proptosis: Ultrasound as First-Line Imaging Modality

Angkasa

Mohammadi

Taranath

et al. 2017

AJP Rep

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Proptosis in the neonatal period is relatively infrequent and has diverse underlying etiologies. One of the more common causes appears to be orbital subperiosteal hematoma. Early detection, differentiation from other causes, and regular follow-up are essential as loss of vision can occur. We describe two cases of neonatal proptosis caused by orbital subperiosteal hematoma highlighting different diagnostic and management approaches, and provide a summary of previously reported cases. Spontaneous resolution occurs in most cases; however, emergent surgical evacuation is warranted in cases of optic nerve compression. This is the first report to provide orbital ultrasound images of uncomplicated neonatal orbital subperiosteal hematoma. Orbital ultrasound followed by magnetic resonance imaging (MRI) is a valid nonradiation approach for assessing neonatal proptosis due to subperiosteal orbital hematoma.

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Section: Discussionmentioning

confidence: 99%

Orbital Subperiosteal Hematoma in the Newborn Causing Unilateral Proptosis: Ultrasound as First-Line Imaging Modality

Angkasa

Mohammadi

Taranath

et al. 2017

AJP Rep

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“…Encephaloceles are seen in the rate of one in every 4000 live births and defined as the protrusion of the intracranial structures 1 , 3) . Most of them occur sporadically and do not accompany to hereditary syndromes 6) . Encephaloceles are classified according to their intracranial localizations and basal encephaloceles are classified under 5 main headings according to their localizations including spheno-ethmoidal, trans-sphenoidal, spheno-orbital, transethmoidal and spheno-maxillary 6 , 7) .…”

Section: Discussionmentioning

confidence: 99%

“…Different to a meningocele, the bulging portion of which contains only cerebrospinal fluid and overlaying dura, an encephalocele is a cystic malformation of the brain tissue herniating through bone 6) . Encephaloceles occur at a rate of one per 4000 live births worldwide 1) .…”

Section: Introductionmentioning

confidence: 99%

“…They are often located in the occipital region; basal encephaloceles are relatively rare, constituting only 1.5% of all cases 7) . Encephaloceles are classified according to 5 anatomic sites, namely the spheno-ethmoidal, transsphenoidal, spheno-orbital, transethmoidal and sphenomaxillary 6) . Congenital absence of portions of the wings of the sphenoid leads to spheno-orbital encephalocele, a rare entity in the literature 2) .…”

Section: Introductionmentioning

confidence: 99%

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Intraorbital Encephalocele Presenting with Exophthalmos and Orbital Dystopia : CT and MRI Findings

Asil

Gündüz

Yaldız

et al. 2015

J Korean Neurosurg Soc

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A 15-year-old female patient with progressive pulsatile exophthalmos caused by intraorbital encephalocele was evaluated with computed tomography (CT) and magnetic resonance imaging (MRI) in our clinic. She had no history of trauma or reconstructive surgery. When she was a little girl, she had undergone surgery for congenital glaucoma on the right eye. On the three-dimensional image of CT, a hypoplasic bone defect was observed in the greater wing of the right sphenoid bone. MRI and CT scan showed herniation through this defect of the arachnoid membrane and protruded cerebral tissue into the right orbita. Intraorbital encephalocele is an important entity that can cause pulsatile exophthalmos and blindness.

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“…A special syndromic encephalocele is observed in the frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies usually involving a defect of the ethmoid and the sphenoid bones and projecting through the nasopharyngeal space (Richieri‐Costa & Guion‐Almeida, ). Transsphenoidal encephaloceles variants are very rare with a prevalence estimated in 1/700,000 live births (Knopp et al, ), and isolated glabellar encephaloceles seems to be as rare as the former and presents a very low incidence in studies related in literature (Tsuchida, Okada, & Ueki, ).…”

Section: Introductionmentioning

confidence: 99%

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

Richieri-Costa

Zechi-Ceide

Candido-Souza

et al. 2019

American J of Med Genetics Pt A

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Here we report on a Brazilian child who presented semilobar holoprosencephaly, frontonasal encephaloceles and bilateral cleft lip and palate. Malformations also included agenesis of the corpus callosum, abnormal cortical gyres, dilation of the aqueduct, bilateral endolymphatic sac, bilateral cystic cocci-vestibular malformation, and a cribriform defect. The 3D TC craniofacial images showed abnormal frontonasal transition region, with a bone bifurcation, and partial agenesis of nasal bone. The trunk and upper and lower limbs were normal. To our knowledge, this rare association of holoprocensephaly with frontonaso-orbital encephaloceles without limb anomalies has never been reported before. Karyotype was normal. SNP-array showed no copy-number alterations but revealed 25% of regions of homozygosity (ROH) with normal copy number, indicating a high coefficient of inbreeding, which significantly increases the risk for an autosomal recessive disorder. Whole exome sequencing analysis did not reveal any pathogenic or likely pathogenic variants. We discuss the possible influence of two variants of uncertain significance found within the patient's ROHs. First, a missense p.(Gly394Ser) in PCSK9, a gene involved in the regulation of plasma low-density lipoprotein cholesterol. Second, an inframe duplication p.(Ala75_Ala81dup) in SP8, a zinc-finger transcription factor that regulates signaling centers during craniofacial development. Further studies and/or the identification of other patients with a similar phenotype will help elucidate the genetic etiology of this complex case. K E Y W O R D S encephalocele, holoprosencephaly, oral cleft, regions of homozygosity, SNP-array, SP8

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A Non-midline Spheno-orbital Encephalocele in a Newborn

Abstract: Key words

Cited by 10 publications

References 26 publications

Orbital Subperiosteal Hematoma in the Newborn Causing Unilateral Proptosis: Ultrasound as First-Line Imaging Modality

Orbital Subperiosteal Hematoma in the Newborn Causing Unilateral Proptosis: Ultrasound as First-Line Imaging Modality

Intraorbital Encephalocele Presenting with Exophthalmos and Orbital Dystopia : CT and MRI Findings

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

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