Congenital Bony Defect Research Articles

Persistent Craniopharyngeal Canal (Type 3C) with Vertebrobasilar Dolichoectasia and Bilateral Sclerochoroidal Calcification

AbstractThe persistent craniopharyngeal canal is a rare, well-corticated midline congenital bony defect through the sphenoid bone between the sellar floor and the nasopharyngeal roof. The prevalence of persistent craniopharyngeal canal is reported to be 0.42%. A 42-year-old male was evaluated for nasal discharge and progressive vision loss; and underwent computed tomography and magnetic resonance imaging, which revealed a large craniopharyngeal canal with ectopic pituitary, lipoma, encephalocele, deformed globe with sclerochoroidal calcification and vertebrobasilar dolichoectasia. The presence of orbital and optic tract malformation, craniofacial anomalies, and tumors can be associated with the craniopharyngeal canal.

A Rare Case of Spontaneous Herniation of Temporomandibular Joint Through Patent Foramen Huschke Presenting with Otalgia: A Case Report and Literature Reviews

We report a rare case of Spontaneous Temporomandibular joint herniation through patent foramen Huschke, which is a congenital bony defect in the external auditory canal. Herniation of temporomandibular joint tissue through the ear canal usually results from infection, trauma, or surgery. Awareness of this rare clinical entity is vital to help the correct diagnosis.

Restoration of Facial Bone Defect using Patient-Specific Implant.

Facial bone defects can be caused by various causes, such as congenital deformities, iatrogenic results, and trauma. If the size of the bone defect is small, it can be repaired using premanufactured products, but it is not accurate and impossible to restore large bony defect. In the effort to overcome these limitations of premanufac-tured implants, the authors use patient-specific implant (PSI) via computer-aided design/computer-aided manufacturing and 3D printing technologies for facial bone restoration surgery. In this study, the authors use polyetherketoneketone and titanium alloy for implant material among various capable of 3D printing. As a result of analyzing the patients who underwent surgery in this study, PSIs were made in 57 sites for 29 patients. The most common reason for surgery was to improve the patient's esthetics (14 cases), followed by the improvement of iatrogenic complications and postoperative dissatisfaction (11 cases). Restoration of the congenital bony defect was the least (4 cases). Postoperative complications were occurred in 5 patients (screw loosening in 1 case, postoperative dissatisfaction in 3 cases, and postoperative infection in 1 case). There is no case of rejection after implant insertion, because the authors use polyetherketoneketone and titanium alloy for implant material which are good biocompatibility. By using PSIs via 3D technologies, the authors can overcome the limitations of premanufactured products. Moreover, the authors could get better results. So these cutting edge technologies can improve our surgical procedures and predictability.

Protrusion of Implant after Surgical Wall Reconstruction due to Temporomandibular Joint Herniation

Herniation of the temporomandibular joint (TMJ) into the external auditory canal is rare as TMJ and external auditory canal are separated by an anterior bony wall of external auditory canal. The bony defect of the anterior external auditory canal can be caused by trauma, otologic procedure, neoplasm, inflammation and a rare congenital bony defect. Conservative treatment is available if the severity of the symptom is mild or asymptomatic. However, surgical procedure is considered if the patient experiences severe distress. There have been no reported cases of surgical-related complications and recurrence during postoperative follow-up period. Herein we report the very first case of foreign body prolapse involving herniation from TMJ extending into the external auditory canal.

Genetic classification and confirmation of inherited platelet disorders: current status in Korea.

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

Anteromedial temporal encephalocele: A rare cause for spontaneous cerebrospinal fluid rhinorrhoea

Spontaneous cerebrospinal fluid (CSF) rhinorrhea in an adult without prior history of head trauma is a rare occurrence. Neuroimaging is done to ascertain the site of bony defects in the cranium and breach in the continuity of dura to localize the site of CSF leakage. Encephaloceles into the sphenoid sinus occurring through congenital bony defects in the walls of the sinus are an extremely rare cause for CSF rhinorrhea. We present a case of spontaneous, nontraumatic CSF rhinorrhea due to an anteromedial encephalocele where the temporal lobe was seen herniating into the right sphenoid sinus through a congenital bony defect in the wall of the sinus. A review of the present literature is also presented.

Temporomandibular Joint Herniation Into the External Auditory Canal

A congenital bony defect of the external auditory canal (EAC) may cause temporomandibular joint (TMJ) herniation into the EAC. This rare condition is known as persistent foramen tympanicum. We report 2 cases of symptomatic TMJ herniation through a patent foramen tympanicum. The patients complained of mastication-induced tinnitus. Otoscopic examination revealed that a whitish protruding mass at the anterior wall of the EAC bulged when the patients closed their mouths. After conservative managements such as avoidance of chewing foods on the affected side for 2 months, mastication-induced tinnitus disappeared and the size of protruding mass was decreased in one of the patients. Surgical repair of the bony defect has been the treatment of choice. In cases when symptoms are trivial and patients do not want surgical treatment, however, conservative management would be a sound alternative.

Anaesthetic Management of an Infant with a Giant Inter-Parietal Meningoencephalocele

Meningoencephalocele (MEC) consists of herniation of cerebrospinal fluid (CSF), meninges and brain tissue through a congenital bony defect in the cranium. Anesthetic challenges associated with a giant MEC include proper securing of airway, intra-operative prone position and its complications, accurate assessment of CSF and blood loss, etc. An active, 3 month old, first child from a non-consanguineous marriage with no other congenital anomaly was admitted with a giant inter-parietal MEC. MRI brain revealed a large midline inter-parietal MEC, containing small amount of brain and large volume of CSF. Baby was induced and intubated in supine position and operated upon in prone position. Sudden drainage of large volume of CSF occurred on opening the sac. It was accompanied with bradycardia, which was successfully managed with intravenous injection atropine. Thereafter, intra-operative course remained uneventful. Intraoperative losses were adequately replaced. Recovery from anesthesia was satisfactory and postoperative course was uneventful. After monitoring in ICU for a day, the patient was shifted to the ward and discharged on 10th post-operative day with advice for regular follow up.

Endoscopic Transpterygoid Approach and Skull Base Repair After Sphenoid Meningoencephalocele Resection. Our Experience

Introduction and objectivesCerebrospinal fluid leaks associated to meningoencephaloceles of the sphenoid lateral recess are rare entities. A congenital bony defect at this level results in the persistence of Sternberg's canal, or a lateral craniopharyngeal canal, which is supposed to be the origin of these lesions. Our objective was to show that the endoscopic transpterygoid approach is an effective technique for their treatment. MethodsWe present a series of 5 cases of meningoencephaloceles of the sphenoid lateral recess treated with endoscopic sinus surgery (4 women and one man; mean age=59, range 37–72 years). Cerebrospinal fluid rhinorrhoea was present in all of them and they all underwent a transpterygoid approach with reconstruction of the skull base. We describe the surgical technique and review the literature. ResultsNo complications were observed during surgery or the postoperative period. After a mean follow-up of 81 months, only one recurrence was seen. ConclusionsThe transpterygoid approach has proven to be effective for the treatment of meningoencephaloceles of the sphenoid lateral recess. Providing wide access to identify the defect, followed by meningoencephalocele ablation, is the key for successful surgery.

CSF Rhinorrhoea with Encephalocele through Sternberg’s Canal: Our Experience

Spontaneous cerebrospinal fluid rhinorrhoea with encephalocele restricted to the sphenoid sinus is rare clinical finding. As of today, only 17 cases encephalocele protruding through the Sternberg’s canal and extending into the lateral recess of sphenoid sinus, have been described in literature. Patients presenting with this special clinical entity usually do not have any history of trauma, tumour or iatrogenic injury. Thus the lesions are considered to originate from a congenital bony defect in the lateral wall of the sphenoid sinus, first described by Sternberg in 1888 as the lateral craniopharyngeal canal (Sternberg’s canal). In our experience each patient of spontaneous CSF rhinorrhea should have suspicion of intrasphenoid encephalocele though cribriform plate is a common site. Endoscopic tranasnasal approach is one of the best modalities for such cases.

Abordaje endoscópico transpterigoideo y reparación de base de cráneo tras resección de meningoencefalocele esfenoidal. Nuestra experiencia

Introduction and objectivesCerebrospinal fluid leaks associated to meningoencephaloceles of the sphenoid lateral recess are rare entities. A congenital bony defect at this level results in the persistence of Sternberg's canal, or a lateral craniopharyngeal canal, which is supposed to be the origin of these lesions. Our objective was to show that the endoscopic transpterygoid approach is an effective technique for their treatment. MethodsWe present a series of 5 cases of meningoencephaloceles of the sphenoid lateral recess treated with endoscopic sinus surgery (4 women and one man; mean age=59, range 37-72 years). Cerebrospinal fluid rhinorrhoea was present in all of them and they all underwent a transpterygoid approach with reconstruction of the skull base. We describe the surgical technique and review the literature. ResultsNo complications were observed during surgery or the postoperative period. After a mean follow-up of 81 months, only one recurrence was seen. ConclusionsThe transpterygoid approach has proven to be effective for the treatment of meningoencephaloceles of the sphenoid lateral recess. Providing wide access to identify the defect, followed by meningoencephalocele ablation, is the key for successful surgery.

A Case of Spontaneous Temporomandibular Joint Herniation into the External Auditory Canal with Clicking Sound

A bony defect of the external auditory canal (EAC) and herniation of the temporomandibular joint (TMJ) can be caused by tumorous conditions, inflammation, trauma, and otologic procedures. Spontaneous TMJ herniation into the EAC can be caused by a congenital bony defect known as patent Huschke's foramen, which is a very rare condition. In our case, an objective clicking sound was produced when the patient opened his mouth. A protruding mass was found in the anterior wall of the EAC during mouth closing, and herniation of the TMJ was confirmed with computed tomography. Therefore, we thought the clicking sound of our case could have resulted from spontaneous TMJ herniation through the patent foramen of Huschke.

Repair of Spontaneous Cerebrospinal Fluid Otorrhea from Defect of Middle Cranial Fossa

Spontaneous cerebrospinal fluid (CSF) otorrhea is defined as CSF otorrhea where there are no identifiable causes including previous trauma, surgery, infection, neoplasm or congenital anomaly. The condition is rare. The origin of CSF leak is commonly a defect in the tegmen of the middle cranial fossa. The pathophysiology of spontaneous CSF otorrhea is unclear. Two theories of the etiology of bony defects of the temporal bone are the congenital bony defect theory and arachnoid granulation theory. The authors experienced a case of a 49-year-old female patient admitted with the complaint of persistent right ear fullness. Computed tomography revealed a large defect of the middle fossa and suspicious CSF otorrhea through the defect of tegmen tympani. Repair was successful with multiple bone chips using the transmastoid approach. The postoperative course was good and there has been no recurrence of the CSF leakage.

Acquired progressive hypotonia in infancy: consider compressive cervical myelopathy

This case report presents a rare cause of progressive hypotonia due to a congenital bony defect of the atlas in a 2-month-old girl. The patient was initially referred to the paediatric department with feeding problems. Within days after admission she developed progressive hypotonia and showed decreased reflexes of the upper extremities. Magnetic resonance imaging showed compressive myelopathy at the level of vertebra C1. After laminectomy of the C1-vertebra the neurological symptoms resolved. Most anomalies of the vertebras are asymptomatic. Only symptomatic anomalies with compression and neurological symptoms need surgery.

Anteroposterior Spondyloschisis of Atlas with Bilateral Cleft Defect of Posterior Arch

case report and review of the literature. to report on a patient presenting with anteroposterior defects of the arch of the atlas with a rare type of posterior arch defect. This report includes a literature review of the hypothesis for the development of this anomaly. congenital bony defects of the atlas are uncommon. Isolated posterior clefts are the most frequent anomaly, but combined anterior and posterior defects are the least common. In particular, combined anteroposterior defects of the arch of the atlas with other types of posterior arch defects, not including type A, have not been reported. These anomalies can cause confusion, particularly in the setting of trauma when the radiologic finding may be misinterpreted as representing a fracture. we report here on a 22-year-old man with an anteroposterior defect of the atlas who complained of neck pain after a traffic accident. The computed tomography demonstrated well-corticated defects with sclerotic changes and no evidence of soft tissue swelling adjacent to the bony discontinuities, consistent with a congenital abnormality. Suspecting anteroposterior spondyloschisis, we performed only conservative treatment. the patient improved on conservative therapy without a surgical procedure. we describe combined anteroposterior defects of the arch of the atlas along with other types of posterior arch defects. Most congenital defects of the arch of the atlas are found during radiologic evaluation of neck pain after trauma. Careful diagnosis is needed for these patients to avoid confusing these defects with a fracture.

A Case of Spontaneous Temporomandibular Joint Herniation into the External Auditory Canal

Bony defects of the external auditory canal (EAC) may arise from a tumor, infection, inflammation, trauma, complications from ear surgery, or congenital disease. Congenital bony defects of the EAC are known as a patent Huschke’s foramen. Here, we describe a 76-year-old male patient who presented an otalgia in his right ear. Physical examination revealed a dome shaped swelling of the anterior EAC wall, which repeated swelling and retraction as the patient’s mouth closed and opened. Computed tomography revealed a bony defect of the anterior EAC wall. We believe that the patent Huschke’s foramen allowed spontaneous herniation of the temporomandibular joint into the EAC. Korean J Otorhinolaryngol-Head Neck Surg 2010;53:175-8 Key WordsZZHuschke’s foramen·External auditory canal·Temporomandibular joint·Otalgia.

Spontaneous CSF-leaks and meningoencephaloceles in sphenoid sinus by persisting Sternberg's canal

Cerebrospinal fluid (CSF) leaks and meningoencephaloceles of the lateral recess of sphenoid sinuses are rare findings. A congenital bony defect in the lateral wall of sphenoid sinus called Sternberg's canal could be the origin of these lesions. Their endoscopic transnasal management is challenging though less traumatic than transcranial approaches. The aim of this study was to define Sternberg's canal as a potential source for these rare lesions and to describe their endoscopic endonasal management. In a retrospective analysis clinical charts of 27 patients with CSF-leaks and / or meningoencephaloceles operated between March 2002 and October 2008 at the University ENT-hospital Graz have been reviewed. All patients were treated by an endoscopic endonasal approach. Five patients (4 female / 1 male) were identified with spontaneous CSF-leaks from sphenoid sinus and meningoencephaloceles. In all five cases, Sternberg's canal was the site of leakage, with the bony and dural defects always located laterally between the maxillary and Vidian nerves. Mean age was 51.2 years and mean body mass index (BMI) was 31.9 kg/m2. All patients were operated using a multilayer closure technique. Two patients had recurrences after 12 days and 7 months, respectively, managed by endoscopic revision surgery resulting in a 100% closure rate after one revision (mean follow-up: 6.5 months). Persisting Sternberg's canal can be the source of spontaneous CSF-leaks and meningoencephaloceles in the lateral recess of sphenoid sinus especially when associated with extensive pneumatisation. Endoscopic management is technically challenging, nevertheless its advantages are a good view of the surgical field while being less traumatic than transcranial approaches.

Biometry of the pubovisceral muscle and levator hiatus assessed by three‐dimensional ultrasound in females with bladder exstrophy–epispadias complex after functional reconstruction

The congenital bony and musculoskeletal defect of the pelvis in bladder exstrophy-epispadias complex (BEEC) highly predisposes females to uterine prolapse. There is a paucity of knowledge on the anatomy of the pelvic soft tissue structures following surgery. The aim of this study was to investigate with transperineal three-dimensional (3D) ultrasound the pubovisceral muscle in females with BEEC who had undergone surgical reconstruction in childhood. In a cross-sectional observational study we examined 12 Caucasian female BEEC patients, mean age 19.9 (range, 15.5-27.4) years, from a single center after a single-stage functional reconstruction with closure of the anterior pelvic ring. As a control group we used 13 Caucasian nulligravidae. 3D transperineal ultrasound volumes were acquired with the patient at rest in the supine position and with an empty bladder, and established pelvic floor parameters were measured. Analysis was conducted offline by two independent investigators. No statistical difference between the BEEC patients and the control group was observed in the anteroposterior diameter or the area of the levator hiatus, or in the maximal thickness of the levator muscle. However, significantly greater values were observed in BEEC patients in the transverse diameter of the levator hiatus (mean, 4.31 vs. 3.81 cm, P = 0.046) and in the levator angle (mean, 80.1 vs. 70.0 degrees, P = 0.040). The measurements obtained in the control group were consistent with those previously reported in the literature. This is the first study showing that transperineal 3D ultrasound can be used for the assessment of BEEC patients after functional reconstruction. Biometric pelvic floor parameters may be useful in the long-term follow-up of BEEC patients.

Comparative Pelvic Floor Imaging in the Bladder-Exstrophy-Epispadias-Complex (BEEC)

Purpose The congenital bony pelvis and pelvic floor defect highly predisposes females in the BEEC to uterine prolapse. There is a paucity of knowledge about pelvic floor anatomy after reconstruction of the BEEC in long-term follow-up. Material and Methods 19 female BEEC patients (mean age 27.3 years) and 5 controls were included in a cross-sectional study. The pubovisceral muscle was investigated with perineal three-dimensional (3D) ultrasound and MRI. Results 13 females had initial a functional bladder reconstruction, 6 patients got an urinary diversion. 12 patients had a closure of the pelvis either by traction bandage or osteotomy. In 7 patients symphysis was not approximated. 4 BEEC patients had complete uterine prolapse and one partial vaginal prolapse (26%). Symphyseal diastasis measured mean 5.0 cm after symphyseal approximation, 10.4 cm without symphyseal approximation in BEEC and 0.48 cm in controls. Levator hiatus was mean 4.5 cm in sonography and 4.4 cm in MRI after symphyseal approximation, 7.4 cm/5.9 cm without symphyseal approximation and 2.9 cm/4.2 cm in controls. Levator angle was median 85.7°/82.9° after symphyseal approximation, 108.6°/112.9° without symphyseal approximation and 45.1°/71.3° in controls. Prolapse was significant in symphysis >10 cm and levator hiatus > 6 cm. Conclusions This study shows that perineal 3D ultrasound is a useful diagnostic tool in the assessment of the levator ani muscle in BEEC. Established biometric pelvic floor parameter can predict the risk for uterine prolapse. Anterior symphyseal approximation and functional reconstruction allow deeper relocation of the bladder neck into the pelvis documented in a normal levator hiatus width and this might prevent uterine prolapse.

Anteroposterior spondyloschisis of the atlas. Two case reports and literature review

Congenital bony defects of the atlas are uncommon; with isolated posterior clefts being the most frequent anomaly and combined anterior and posterior defects the least common, occurring in only 0.3-0.7% of the population. These anomalies can cause confusion, particularly in the setting of trauma when appearances on plain radiography may be misinterpreted as representing a fracture. Two cases of anteroposterior spondyloschisis are presented and the pathology, diagnosis and the clinical relevance of such defects discussed with reference to previous published literature.