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spheno-orbital agenesis - Top 30 Publications

Pulsatile exophthalmos revealing spheno-orbital agenesis associated with Von Recklinghausen's disease.

Ophthalmological manifestations of Von Recklinghausen disease are rare. Only a few cases have been reported in the international literature. We here report the case of a patient with pulsatile exophthalmos revealing spheno-orbital agenesis associated with Von Recklinghausen's disease.

Congenital orbital encephalocele, orbital dystopia, and exophthalmos.

We present here an exceedingly rare variant of a nonmidline basal encephalocele of the spheno-orbital type, and this was accompanied with orbital dystopia in a 56-year-old man. On examination, his left eye was located more inferolaterally than his right eye, and the patient said this had been this way since his birth. The protrusion of his left eye was aggravated when he is tired. His naked visual acuity was 0.7/0.3, and the ocular pressure was 14/12 mm Hg. The exophthalmometry was 10/14 to 16 mm. His eyeball motion was not restricted, yet diplopia was present in all directions. The distance from the midline to the medial canthus was 20/15 mm. The distance from the midline to the midpupillary line was 35/22 mm. The vertical dimension of the palpebral fissure was 12/9 mm. The height difference of the upper eyelid margin was 11 mm, and the height difference of the lower eyelid margin was 8 mm. Facial computed tomography and magnetic resonance imaging showed left sphenoid wing hypoplasia and herniation of the left anterior temporal pole and dura mater into the orbit, and this resulted into left exophthalmos and encephalomalacia in the left anterior temporal pole. To the best of our knowledge, our case is the second case of basal encephalocele and orbital dystopia.

A non-midline spheno-orbital encephalocele in a newborn.

Basal encephaloceles in western countries occur in 1 of every 35 000-40 000 live births; with an incidence of less than 10% they are the least common of all encephaloceles. Certain subtypes such as transsphenoidal variants may be as rare as 1 in 700 000 live births. These rare encephaloceles are classified into five anatomic types: spheno-ethmodial, transsphenoidal, spheno-orbital, transethmoidal, and spheno-maxillary. Here we present an exceedingly rare variant of a non-midline basal encephalocele of the spheno-orbital type, which was treated by resection of the encephalocele, which contained dysplastic central nervous system tissue, on day four post partum. The patient had no neurological deficits and a six year follow-up showed a normal intellect and a good cosmetic result.

Cranial anomaly of homozygous rSey rat is associated with a defect in the migration pathway of midbrain crest cells.

Craniofacial development of vertebrates depends largely on neural crest contribution and each subdomain of the crest-derived ectomesenchyme follows its specific genetic control. The rat small eye (rSey) involves a mutation in the Pax-6 gene and the external feature of rSey homozygous embryos exhibits craniofacial defects in ocular and frontonasal regions. In order to identify the mechanism of craniofacial development, we examined the cranial morphology and migration of cephalic crest cells in rSey embryos. The chondrocranial defects of homozygous rSey embryos primarily consisted of spheno-orbital and ethmoidal anomalies. The former defects appeared to be brought about by the lack of the eye. In the ethmoid region, the nasal septum and the derivative of the medial nasal prominence were present, while the rest of the nasal capsule, as well as the nasal and lachrymal bones, were totally absent except for a pair of cartilaginous rods in place of the nasal capsule. This suggests that the primary cranial defect is restricted to the lateral nasal prominence derivatives. Dil labeling revealed the abnormal migration of crest cells specifically from the anterior midbrain to the lateral nasal prominence in homozygous rSey embryos. Pax-6 was not expressed in the crest cells but was strongly expressed in the frontonasal ectoderm. To determine whether or not this migratory defect actually resides in environmental cues, normal midbrain crest cells from wild-type embryos were labeled with Dil and were orthotopically injected into host rSey embryos. Migration of the donor crest cells into the lateral nasal prominence was abnormal in homozygous host embryos, while they migrated normally in wild-type or heterozygous embryos. Therefore, the cranial defects in rSey homozygous embryos are due to inappropriate substrate for crest cell migration towards the lateral nasal prominence, which consistently explains the cranial morphology of homozygous rSey embryos.

Abnormalities of the optic papilla in (peri)orbital encephaloceles--a contribution to the common pathogenesis of these abnormalities.

Eleven patients (6 female, 5 male) with unilateral (6) or bilateral (5) (peri)orbital encephaloceles (nasofrontal in 4 cases, naso-orbital in 3, spheno-orbital in 4), were ophthalmologically examined. All had normal anterior segments, but ipsilateral or bilateral anomalies of the optic nerve head such as coloboma, pits, morning glory syndrome, dysplasia, tilted disk syndrome, hypoplasia, or a persistent hyaloid artery. In regard to the pathogenesis of (peri)orbital encephaloceles associated with optic disk malformations a common clefting defect in the neuroectodermal and neurocristal midline structures of the head is postulated, taking place in the fourth to sixth week of development.

Bone anomalies in von Recklinghausen disease.

28 cases of neurofibromatosis are reported. Principals bone anomalies are reviewed. The skeletal manifestations are numerous and varied. These anomalies interest specially cranial vault, spheno-orbital area and vertebral spine. It is imperative to keep in mind skeletal manifestations because neurologic and cutaneous signs can be absent.