The reconstruction of skull base defects in infants using pedicled nasoseptal flap-a review of four cases.

INTRODUCTION: Benign lesions of the skull base are common in the paediatric population, and are usually congenital in aetiology. Majority of these lesions are treated transcranially exposing the patients to a number of risks. Although endoscopic endonasal surgery (EES) helps avoid many of these potential morbidities, CSF leak with its attendant complication remains a big concern. This study reports the use of the Hadad flap in the reconstruction of skull base defects in infants to prevent this problem. The study was conducted on four infants with a mean age of 7 months, who underwent repairs for CSF leaks associated with congenital lesions like meningocele or meningoencephalocele, using the Hadad flap. Of the four patients, three cases were revision cases and one was primary where the patients presented with complaints such as nasal obstruction and watery nasal discharge. Post surgery, the infants were monitored for a mean period of 23 months and no major complications or recurrent CSF drainage were observed. Minor complications that were observed include vestibulitis and crusting in the nose. The utility of the Hadad flap in the reconstruction of skull base defects in the paediatric age group has been controversial while its utility in infants has not been studied in literature so far. We report here in our series four infant patients in whom we believe that the nasal septum and the skull base will develop proportionally to each other, hence lowering the chances of a short flap and eliminating the occurrence of future complications. CONCLUSION: The nasoseptal flap is an effective and safe technique for reconstructing skull base defects in infancy. It can be concluded that this technique does not have any potential effect on septal or craniofacial growth as the flap is harvested only on one side with normal mucosal cover on the other side. There is no posterior septectomy or any form of bony or cartilaginous resection that is performed, hence avoiding any effects on bony growth. No studies have been published in literature so far and to the best of our knowledge, this is the first report describing the efficacy of the nasoseptal flap in infants.

Bilateral giant and unilateral duplicated sphenoidal tubercle.

The sphenoidal tubercle (SphT), also known as pyramidal tubercle or infratemporal spine projects from the anterior end of the infratemporal crest of the greater sphenoidal wing. As it masquerades the lateral entrance in the pterygopalatine fossa it could obstruct surgical corridors or the access for anaesthetic punctures. The SphT is, however, an overlooked structure in the anatomical literature. During a routine cone beam computed tomography study in an adult male patient we found bilateral giant SphTs transforming the infratemporal surfaces of the greater wing into veritable pterygoid foveae. Moreover, on one side the SphT appeared bifid, with a main giant partition, of 9.17 mm vertical length, and a secondary laminar one. The opposite SphT had 14.80 mm. In our knowledge, such giant and bifid SphTs were not reported previously and are major obstacles if surgical access towards the pterygopalatine fossa and the skull base is intended.

Carotid canal and optic canal at sphenoid sinus.

In the present study, we investigated the relationship between sphenoid sinus, carotid canal, and optic canal on paranasal sinus computed tomography (PNSCT). This study was performed retrospectively. PNSCT images of 300 adult subjects (159 male, 141 female). Sphenoid sinus (pneumatisation, dominancy, septation, inter-sinus septa deviation), anterior clinoid process pneumatisation, Onodi cell, carotid and optic canals (width, dehiscence, classification) were measured. In males, type 3 pneumatised sphenoid sinus (in both sides) and in females type 2 pneumatised sphenoid sinus (right side) and type 3 pneumatised sphenoid sinus (left side) were detected more. Anterior clinoid pneumatisation was present 47.2% in males and 39.7% in females. In male group, more septation (i.e. 22.6%, ≥ 3 septa) in sphenoid sinus were detected. Onodi cell was present 26.6 and 19.1% in males and females, respectively. Carotid canal protrudation to the sphenoid sinus wall was present 23.9-32.1% in males and 35.5-36.2% in females. Dehiscence in carotid canal was detected more in females (34%) compared to males (22%). Optic canal protrudation was 33.3 and 30.5% in males and females. Type 4 optic canal was detected more in both gender. Optic canal dehiscence was detected 11.3 and 9.9% in males and females. Carotid and optic canal diameters were higher in males. In pneumatised sphenoid sinuses and in females, type 3 carotid canal (Protrudation to SS wall) (bilaterally) and type 1 optic canal type (No indentation) (ipsilateral side) were detected more. In elderly patients, carotid and optic canal width increased. When carotid canal protrudation was detected, there was no indentation in optic canals In pneumatised SS, carotid canal protrudation was observed with a greater risk in surgery. However, type 1 (non indentation) optic canal was present in highly pneumatised SS with lower risk for the surgery. In women, the risk of carotid canal protruding (about 1/3) is greater than that of males, and carotid canal dehiscence rates are also higher in females. Therefore, physicians should be very careful during the preparatory stages of the sphenoid sinus surgery. Otherwise, it may not be possible to prevent lethal carotid artery bleeds.

Beals syndrome with middle and inner ear dysplasia and encephalocele: A case report and review of imaging findings.

A 10-year-old male with history of Beals syndrome presented with hearing loss and was found to have middle and inner ear dysplasia and left temporal encephalocele on imaging. Beals syndrome is a rare autosomal dominant connective tissue disorder caused by a mutation in the fibrillin-2 gene. Skeletal manifestations of Beals have been reported, including anomalies of the long bones, calvarium, and spine. External ear abnormalities with "crumpled ear" deformity are seen in the majority of patients. This is the first case to report imaging findings of the middle and inner ear in a patient with Beals.

Incidence and morphometry of sellar bridges and related foramina in dry skulls: Their significance in middle cranial fossa surgery.

PURPOSE: The current study investigated the incidence, morphology and morphometry of the ossified ligaments expanding between petrous bone and posterior clinoid processes and in between the anterior, middle and posterior clinoid processes. Side symmetry, gender dimorphism and age influence were also studied. MATERIALS AND METHODS: A total of 123 adult Greek dry skulls were observed. RESULTS: A caroticoclinoid bar (CCB) was found in 60.2%. Partial CCBs appeared more commonly (36.6%) than complete (23.6%). The caroticoclinoid foramen (CCF) was symmetrical on both sides and genders. An anterior interclinoid, a posterior petroclinoid and a partial posterior interclinoid bar appeared in 19.5%, 6.5% and 2.4%, respectively. Osseous spurs posterolateral to the posterior clinoid process were present in 5.7%. CONCLUSION: The study highlights important morphometric details about osseous bars of the sella region and the related CCF in Greek skulls. Notable differences in the incidence of these bars in Greek individuals compared with findings from other populations highlight the growing awareness of ethnic differences in skull base landmarks. Variations and surgically oriented measurements provided by this study may benefit clinicians involved in the treatment of the middle cranial fossa pathology, enriching understanding of the complicated regional anatomy. Preoperative sellar area mapping is essential, by using computed tomography images, since modification of the surgical approach may be required in cases of severe ossification.

Sphenoid Dysplasia: A Rare Presentation of Infantile Myofibroma.

The authors report a case of isolated congenital orbital myofibroma causing sphenoid dysplasia and presenting as global restriction of extraocular motility and ptosis in a neonate. Sphenoid wing dysplasia is most commonly associated neurofibromatosis 1 but this patient had no evidence of neurofibromatosis on clinical examination and genetic testing. Congenital orbital myofibroma can have secondary effects on bone and likely the lesion was present early in development leading to aplasia of the sphenoid bone. To the best of the authors' knowledge, this is the first reported case of sphenoid wing aplasia secondary to congenital orbital myofibroma independent of neurofibromatosis 1.

A multidisciplinary approach to sphenoid wing dysplasia presenting with pulsatile proptosis in neurofibromatosis Type 1: A rare case report.

Neurofibromatosis (NF) with sphenoid wing dysplasia is a rare clinical entity. Herewith, we present a case of NF with sphenoid wing dysplasia which presented with pulsatile progressive proptosis. Other ocular symptoms or visual disturbances were absent. Diagnosis of the condition was not easy and the management was a challenging task which needed multidisciplinary approach as there were ocular, neurological, orthopedic, and dermatological manifestations. With neurosurgical intervention, reconstruction of the sphenoid wing was possible. Proptosis was corrected without any disturbance of vision.

The prevalence of the Onodi cell - Most suitable method of CT evaluation in its detection.

BACKGROUND: The Onodi cell (sphenoethmoidal air cell) is an anatomic variant of the most posterior ethmoid cell that pneumatised superiorly and laterally to the sphenoid sinus, and is in close relation to the optic nerve. The proper identification of the Onodi cell is essential during a pre-operative computer tomography (CT) examination, as the presence of that ethmoid cell variant makes sphenoid sinus surgery more risky. The bulging of the optic nerve to the ethmoid cell wall is well visualized during endoscopic examination, but there are no clearly defined criteria for a potentially dangerous Onodi cell type in CT examinations. OBJECTIVE: To determine the prevalence and types of Onodi cell in CT examination and find the most suitable CT scanning planes to identify it. MATERIAL AND METHODS: Three plane (axial, coronal and sagittal) reconstructions of 196 paranasal sinuses were analyzed. The most posterior ethmoid cell was classified into four types, according to its position in relation to the sphenoid sinus and the optic nerve canal bulging into the lumen of the sphenoethmoid cell. RESULTS: The Onodi cell was detected in 39.8% of cases, although in 55.6% of cases a direct contact between the most posterior ethmoid cell and the optic nerve was present. Bulging of the optic nerve canal was seen in 25% of cases. In two cases two posterior ethmoid cells were in direct contact with the optic nerve canal. CONCLUSION: The prevalence of the Onodi cell was higher than previously reported. Pre-operative paranasal sinuses CT examination should be evaluated in all three planes (axial, coronal and sagittal) to avoid missing or over-detection of the Onodi cell. Axial and sagittal planes are preferable for the detection of the Onodi cell.

A morphological study of the dorsum sellae in human skull / Estudio morfológico del dorsum sellae en el cráneo humano

Anatomical variations in the shape and dimension of the dorsum sellae and posterior clinoid process are common. Most textbooks describe its shape as a median rectangular plate, a square plate, or a transverse ledge on a slope behind the sella turcica (hypophyseal fossa). This work aims to study the dorsum sellae of human skull. One hundred and twenty five dried adult human skulls, irrespective of age, were used for the study. Detailed features of the dorsum sellae were noted and classified into five types: crest like, thin plate, frail quadrilateral plate, heavy square plate, thick elongated plate. Fusion of the posterior and middle clinoid processes in one (unilateral) and all the clinoid processes (anterior, middle, and posterior) in three skulls (unilateral in one, bilateral in two) were also noticed. Findings are discussed in the light of the literature.

Son frecuentes las variaciones anatómicas de la forma y dimensión de dorsum sellae y de los procesos clinoides posteriores. La mayoría de los textos describen su forma como una placa rectangular mediana, una placa cuadrada, o un plano transversal en una pendiente detrás de la sella turcica (fosa hipofisaria). Este trabajo tiene como objetivo estudiar el dorsum sellae en cráneo humano. Para el estudio se utilizaron 125 cráneos humanos adultos secos, de diferentes edades. Se observaron características detalladas de dorsum sellae y se clasificaron en cinco tipos: cresta, al igual que la placa delgada, lámina cuadrilátera, placa cuadrada gruesa, placa alargada gruesa. En tres cráneos se observó fusión de la parte posterior y los procesos clinoides intermedios (unilateral) y los procesos clinoides (anterior, medio y posterior) (unilateral en uno de ellos, bilateral en dos). Los resultados se discuten en consideracion de la literatura.

The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome.

OBJECTIVE: To characterize the phenotypes of spheno-occipital synchondrosis (SOS) in Chinese patients with Crouzon syndrome. METHODS: Twelve patients with Crouzon syndrome were included in this retrospective study, and were divided into 2 groups. The first group included 5 patients (5-7-year old), whereas 7 patients were included in the second group (8-11-year old). Two age- and sex-matched control groups were constituted for comparison. All patients and controls were underwent preoperative computed tomography examinations of the craniofacial area, and the three-dimensional skull models, sagittal, and axial images were reconstructed. The density of the SOS region was also calculated. RESULTS: The SOS was partially closed in the first Crouzon patients group, whereas the SOS was open in control groups. The SOS was completely fused SOS in the second Crouzon patients group, whereas the SOS was open or partially closed in control groups. There also were short and hypoplastic sphenoid bone in both Crouzon groups when compared with controls. In addition, the average density of SOS in patients with Crouzon syndrome was higher than the control groups (P <0.01). CONCLUSIONS: The SOS begins to prematurely fuse in Chinese patients with Crouzon syndrome, and there are short and hypoplastic sphenoid bone in these patients. Although a definitive role of prematurely fused SOS in Crouzon syndrome cannot be drawn, our finds provide important clues into the mechanisms, and potentially provide a treatment target for midfacial and cranial vault hypoplasia in Crouzon patients.

Surgical correction in orbitotemporal neurofibromatosis with dystopia.

BACKGROUND: Orbitotemporal neurofibromatosis is a challenging disease for orbital surgeons. Ptosis correction may be needed following correction of orbital dystopia. CASE PRESENTATION: A 34-year-old man, who underwent excision of a neurofibroma on the right eyelid in our clinic, returned to our clinic four years later complaining of dystopia and bulkiness of the protruding mass in the right eyelid and eyebrow. Computed tomographic imaging showed dysplasia and deformity in the sphenoid bone and orbit. A large mass was found in the superior portion of the orbit, protruding towards the temporal lobe, which in turn displaced the orbit downwards. A bicoronary incision and transcranial approach were performed, followed by the excision of the superior orbital space and temporal lobe mass by uncovering certain portions of the frontal, temporal, and zygomatic bones. After the excision of the mass, a calvarial bone graft was used to remodel the longitudinal widened orbit to correct the dystopia. While primary surgery was successful in the correction of dystopia, secondary surgery was performed to correct the exacerbated ptosis by levator muscle resection. CONCLUSIONS: Correction of orbitotemporal neurofibromatosis with dystopia involves three steps: removal of the mass in the orbit to eliminate the effect of downward dislocation of the orbit, placement of a bone graft in the orbit floor after repositioning the orbit for suspension and remodeling of the orbit, and following the correction of dystopia, ptosis may be corrected if needed.

Congenital Ocular Dystopia from Orbitofrontal Bone Dysplasia.

BACKGROUND: Several patients with ocular dystopia and craniofacial differences have been found to have orbital dysplasia and a frontal bone defect. This deformity is characteristically different from differential diagnoses of encephalocele, sphenoid dysplasia, craniofacial dysostoses, or atypical clefting. METHODS: The authors retrospectively reviewed the craniofacial registries of two pediatric centers for patients presenting with ocular dystopia or orbitofrontal anomalies between 2000 and 2014. The features and treatment of these patients were analyzed. RESULTS: Four patients with congenital orbitofrontal bone dysplasia were identified, three with unilateral and one with bilateral frontal bone defects. Clinical signs of hypoglobus and vertical ocular dystopia of an average of 5.0 mm on the affected side were noted shortly after birth. The transversely oriented bony defect had an average surface area of 3.9 cm in unilateral cases and 10.7 cm in bilateral cases. Patients showed a characteristic orbital vertical elongation with an average orbital height-to-width ratio of 1.30-in excess of the average normal 1.14 by 14 percent-and inferior rim displacement. Cranial contour demonstrated frontal bossing and borderline dolichocephaly. Fronto-orbital reconstruction was performed in three patients, using cranial bone grafting to obliterate the orbital roof defect and elevate the orbital floor, which was successful in reducing ocular dystopia and preserving vision in each patient. One patient followed for 11 years postoperatively has a durable result with no surgical revision. CONCLUSIONS: Orbitofrontal bone dysplasia has not been previously reported, and includes a frontal bone defect and ocular dystopia. Single-stage fronto-orbital reconstruction appears to adequately correct it. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Isolated Unilateral Frontosphenoidal Craniosynostosis: A Rare Cause of Anterior Plagiocephaly.

Isolated unilateral frontosphenoidal synostosis is a rare and often misdiagnosed cause of synostotic frontal plagiocephaly. It is important to distinguish the various synostotic causes of frontal plagiocephaly from deformational frontal plagiocephaly because operative intervention is required in synostotic plagiocephaly to avoid progressive deformity, whereas deformational plagiocephaly typically improves without surgery. This study reports a patient with a unique case of anterior plagiocephaly caused by left-sided frontosphenoidal craniosynostosis. The workup should include a thorough history and clinical examination followed by computed tomography scan with three-dimensional reconstruction. Frontosphenoidal synostosis should be suspected in the absence of a coronal synostosis in a child with anterior unilateral plagiocephaly and treated surgically. Good aesthetic and functional results occur with prompt diagnosis and early surgical correction.

Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome.

Gómez-López-Hernández syndrome (GLHS) is a clinical condition traditionally characterized by rhombencephalosynapsis (RS), parieto-occipital alopecia, and trigeminal anesthesia. It is a neurocutaneous disorder with no known etiology. The underlying cause of the trigeminal anesthesia in GLHS has not been examined or reported; it has merely been identified on clinical grounds. In this report, a 10-month-old white female born at 37 weeks gestational age with GLHS underwent a contrast-enhanced CT for the evaluation of craniofacial dysmorphic features. Thin-section bone algorithm images showed absence of bilateral foramina rotunda and trigeminal nerve fibers. The maxillary branch of the trigeminal nerve passes through the foramen rotundum and carries sensory information from the face. This case is unique because trigeminal nerve absence has not been suggested as a possible etiology for trigeminal anesthesia associated with GLHS. It is not known how many cases of GLHS have agenesis of the trigeminal nerve; however, a review of the literature suggests that this patient is the first. The triad of RS, alopecia, and trigeminal anesthesia is specific to GLHS; therefore, early identification of trigeminal nerve agenesis in patients with RS could expedite diagnosis of GLHS, particularly given that the clinical diagnosis of trigeminal anesthesia in neonates is a challenging one. Diagnosing alopecia in newborns is likewise challenging. Early diagnosis could allow for early intervention, especially for ophthalmic complications, which are known to have significant long-term effects. This case illustrates the benefits of CT imaging in the detection of trigeminal nerve and foramina rotunda abnormalities in neonates with suspected GLHS.

Frontosphenoid synostosis: an unusual cause of anterior plagiocephaly.

Nonpositional anterior plagiocephaly results commonly from unilateral coronal craniosynostosis. We present 2 patients of a rare cause of anterior plagiocephaly known as frontosphenoid synostosis. This condition is characterized by the absence of a harlequin eye (or the harlequin sign on computed tomography), which is usually present in unilateral coronal synostosis. We also observed no reduction in the ear-eye distance, which can distinguish it from coronal craniosynostosis.

SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.

CONTEXT: SOX3 is an early developmental transcription factor involved in pituitary development. In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopituitarism, with or without mental retardation and, in most cases, with reported pituitary imaging, an ectopic/undescended posterior pituitary. PATIENT: We present a young patient with hemophilia B and developmental delay who had a 2.31-Mb deletion on Xq27 including SOX3, F9, and eight other contiguous genes. He developed GH and gonadotropin deficiency, whilst his thyroid function was in the low normal range. Magnetic resonance imaging revealed a eutopic posterior pituitary and the unusual finding of a persistent craniopharyngeal canal that has not previously been described in patients with congenital hypopituitarism. OBJECTIVE AND METHODS: To establish whether loss of SOX3 can account for the human phenotype, we examined in detail the hypothalamo-pituitary region of neonatal Sox3 null mice. RESULTS: Consistent with the patient's phenotype, Sox3 null mice exhibit a ventral extension of the anterior pituitary that penetrates, and generates a mass beneath, the sphenoid bone. This suggests that the defect results from abnormal induction of Rathke's pouch, leading to a persistent connection between Rathke's pouch and the oral ectoderm. CONCLUSIONS: Our observations expand the spectrum of phenotypes observed in association with altered SOX3 dosage and may affect the approach to genetic screening. Screening for SOX3 should be advised not only for hypopituitary patients with an ectopic posterior pituitary, but also for those with a structurally normal pituitary and additional findings, including clefts and a persistent craniopharyngeal canal, with or without mental retardation.

Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation.

Gorlin syndrome is an autosomal dominant disorder linked to PTCH1 mutation, identified by a collection of clinical and radiologic signs. We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome including multiple basal cell carcinomas, keratocystic odontogenic tumors, atypical skeletal anomalies and a novel PTCH1 germline mutation (c.1041delAA). Craniofacial and other skeletal anomalies displayed at 3D and helical CT scan were: macrocephaly, positional plagiocephaly, skull base and sphenoid asymmetry, bifidity of multiple ribs and giant multilocular odontogenic jaw cysts. Extensive multilamellar calcifications were found in falx cerebri, tentorium, falx cerebelli and in the atlanto-occipital ligament. The inclusion of bifid ribs as a novel major criteri may be useful for the recognition and characterization of misdiagnosed cases.