Glossopharyngeal neuralgia: neurosurgical treatment and differential diagnosis

Summary The objective of this study was to review the literature on glossopharyngeal neuralgia (GN) and to discuss its differential diagnosis and treatment options. Despite the significant improvement of trigeminal neuralgia with pharmacological treatment, GN has a higher incidence of treatment failure and neurosurgery is necessary for the majority of patients. Functional neurosurgery has a great rate of success for GN, especially techniques such as percutaneous thermal rhizotomy, trigeminal tractotomy and/or nucleotomy. The main problem with GN remains the diagnosis as it is a rare disease with similarities to trigeminal neuralgia, including the same pharmacological treatment. Facial pain specialists should be trained to achieve a better accuracy of diagnosis. Correspondence: Silvia RDT Siqueira, Rua Maria Candida, 135 Vila Guilherme, 02071–010 Sao Paulo, SP, Brazil.     

Agenesis of the gallbladder in adults: a laparoscopic diagnosis

Summary. Failure to find the gallbladder at the usual or most common atypical sites during surgery for cholecystolithiasis is a rare but known problem. Although ultrasonography has 95 % sensitivity for the diagnosis of cholelithiasis, occasionally a small contracted gallbladder with stones and chronic cholecystitis will be difficult to visualize and can lead to erroneous interpretation. We report on the case of a patient presenting with abdominal colic and ultrasonographically confirmed cholecystolithiasis. During laparoscopic cholecystectomy, the gallbladder could not be detected. After laparoscopic staging followed by endoscopic retrograde cholangiopancreatography and abdominal computed tomography, agenesis of the gallbladder was confirmed. This method can be considered for diagnosis of gallbladder agenesis without the need for laparotomy and thorough exploration.      

Practical use and utility of fluorescence in situ hybridization in the pathological diagnosis of soft tissue and bone tumors

During routine pathological examination, fluorescence in situ hybridization (FISH) plays a significant role in the genetic analysis of samples. FISH can detect genetic abnormalities such as chromosomal translocations, gene amplifications, and deletions in formalin-fixed, paraffin-embedded (FFPE) specimens. Due to its practical advantages, FISH is already used in many pathology laboratories. It is especially useful for the diagnosis of translocation-related sarcomas (TRSs), which comprise about 25% of soft tissue sarcomas. Because TRSs have specific chimeric genes derived from characteristic chromosomal translocations, their diagnosis would not be possible without FISH. FISH significantly contributes to the genetic confirmation of TRS. Analysis using next-generation sequencing (NGS), the latest powerful method for comprehensive genomic analysis, has recently revealed many kinds of chromosomal translocations in various TRSs. We often use experimental results to create custom probes for FISH and have applied NOCA2 split probes and CIC split, CIC-FOXO4 fusion probes to the pathological diagnosis of soft tissue angiofibroma and CIC-rearranged sarcoma, respectively. Some chimeric fusions detected by NGS induce the expression of related proteins and their detection using immunohistochemistry is beneficial for pathological diagnosis. We previously identified characteristic FOSB expression in pseudomyogenic hemangioendothelioma (PHE) with a specific SERPINE1-FOSB fusion, revealing the usefulness of FOSB immunohistochemistry in the differential diagnosis of PHE and its mimics. Finally, we participated in a central review of a clinical trial of trabectedin monotherapy. We guaranteed an accurate diagnosis by using FISH and genetic confirmation to select appropriate TRS patients and thereby confirm the accuracy of the patient enrollment of the clinical trial. FISH is an essential tool for the pathological diagnosis of soft tissue and bone tumors. It can detect various genetic abnormalities in an “in situ” fashion using FFPE specimens on glass slides during routine examination. It is also an excellent tool for translating the latest experimental findings to practical use in routine pathological diagnosis. Further instrumental improvements in FISH will help it to become the universal method for the genetic analysis of pathological diagnoses.     

Thoracoscopy for diagnosis of intrathoracic lesions in children

Disenchantment with available techniques for specific diagnosis of intrathoracic pulmonary lesions in children has led us to explore the usefulness of thoracoscopy. We have performed this technique in nine patients ranging in age from 17 mo to 16 yr. The procedure is performed under intravenous anesthesia with the patient spontaneously breathing oxygen. A fiberoptic rod lens system is employed for the direct observation and biopsy of pulmonary parenchymal or chest wall lesions. Adequate tissue has been obtained in each case to allow a specific diagnosis. There has been no mortality from this procedure and only minor morbidity. We believe that this technique offers a rapid and simple method for the diagnosis of diffuse or localized disease of pulmonary parenchyma or chest wall in children.     

Management of foot deformity in children

This study describes the management of foot deformity in children. Severe congenital clubfeet treated using posteromedial release without talocalcaneal joint release were flexible and functional. Talectomy may be necessary for congenital clubfeet with arthrogryposis multiplex congenita. The diagnosis and severity of vertical talus were defined based on stress radiographs. For the deformity with spina bifida, a combination of talocalcaneal joint fusion and precise correction by soft tissue release and tendon transfer was performed. This combined surgery is effective, particularly in patients with equino-varus feet.     

Case Reports and Literature Review About Family Autonomy in the Process of Donation of Organs and Gametes: An Ethical and Legal Analysis

The recovery or collection of postmortem semen raises relevant ethical and social concerns. In this study we report 2 cases witnessed by the authors in an organ procurement organization in Brazil. The patients had a diagnosis of brain death, were organ donors, and had no consent for the use of postmortem sperm. In Brazil, the diagnosis of brain death has been clearly established since 1997, with the most recent update in 2017, but has not considered the possibility of the collection of sperm or eggs from the donor. A review of the world literature has been carried out, as well as current legislation in different countries, including Brazil, with special interest in the impact on the autonomy of the deceased (informed consent or not), the wife, the generation of the child and their rights, and the ethical role of the physician.     

Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review

Summary Background. Lhermitte-Duclos Disease (LDD) is an infrequent cerebellar disorder characterized by focal or diffuse enlargement of cerebellar folia presenting as a slowly growing mass in the posterior fossa. Over the past decade its association with Cowden disease (CD) has been recognized with increasing frequency. This latter disease is a genetic condition leading to the presence of multiple hamartomas and neoplasias which affect mainly the skin, thyroid, breast and genito-urinary and gastro-intestinal tracts. It has even been hypothesized that LDD and CD constitute a single entity. This work is aimed to analyse to what extent this association was present in patients treated for LDD at our institution. Method. We reviewed the medical records of five patients and performed clinical studies for CD manifestations, among them, genetic investigation for PTEN mutations. The International Cowden Consortium Criteria were applied for the diagnosis of CD. Findings. Four of the five patients treated for LDD were also diagnosed of CD. The genetic study found PTEN mutations in two of them. Interpretation. LDD has been found to be closely related to CD in this series, in accordance with previous literature. However, the absence of CD diagnosis in one of the patients led us to suggest that, despite the strong association between these two diseases, LDD can also appear as an isolated condition.     

Spinal brucellosis: Turkish experience based on 452 cases published during the last century

Summary Background. Spinal brucellosis continues to be the leading cause of morbidity from infectious disease in the infested regions of the world, particularly in the rural areas including Turkey. The purpose of this review was to present the Turkish experience by analyzing the literature on the management of spinal brucellosis during the last century. Materials and method. To establish new guidelines for the diagnosis and treatment of this disabling health problem, publications reported from Turkey in national (n = 27) and international (n = 37) journals during the last century and databases containing medical literature were analysed. Results. It was observed that the number of articles produced by Turkish authors regarding spinal brucellosis has tremendously increased throughout the study period. Although the total number of reported cases with spinal brucellosis from a total of 34 secondary or tertiary referral centers in Turkey was 452, only cases having detailed information were evaluated for further analysis according to inclusion/exclusion criteria. Despite the inherent limitations, this type of study clearly indicates that the incidence of brucellosis has not decreased in Turkey over recent years. The clinical and radiological findings of brucellosis involving the spine were mostly atypical and it was difficult to diagnose this infectious disease owing to its nonspecific and variable clinical picture. Therefore, it may easily lead to a misdiagnosis of lumbar disc herniation or other spinal infections and a high index of suspicion is required to diagnose this condition in endemic parts of the world. In addition to serological tests, CT and/or MRI techniques were found to be sensitive for diagnosis and follow-up because they provide early diagnosis of lesions involving the spine and more accurate localization of intraspinal and paraspinal infestation by means of multiplanar images. Histologically, noncaseating granulomatous tissue and chronic inflammation were characteristic features of cases of brucellosis with spinal involvement. Conclusions. Based on this critical review of literature from Turkey, it is concluded that early diagnosis and correct management are important to prevent the harmful effects of brucellosis and its complications, and that the treatment of choice is antibiotic therapy alone in most cases of brucellosis involving the spine.     

Primary-isolated optic nerve sarcoidosis

Summary Sarcoidosis is a systemic, idiopathic granulomatous disorder with occasionally surprising clinical presentations. A primary involvement of the optic nerve is particularly important due to visual prognosis. We report here a patient with occult sarcoidosis who presented to us with progressive visual loss as the first and primary manifestation of the disease. The patient underwent surgery for histopathological diagnosis and decompression of the optic nerve. This case demonstrated that sarcoidosis should be considered in the differential diagnosis of any lesion involving the optic nerve.     

Value of Transcranial Doppler Ultrasonography in the Diagnosis and Follow-up of Carotid-Cavernous Fistulae

Summary. The introduction of transcranial Doppler ultrasonography (TCD) has made it possible to examine blood flow characteristics in carotid-cavernous sinus fistulae (CCSF) in a noninvasive, relatively simple, and reliable way. This study investigated the usefulness of TCD in the diagnosis and follow-up of various CCSF subtypes. We found characteristic TCD findings associated with high-flow CCSF, but perhaps more importantly, found this technique to be an excellent tool also for detecting and following treatment results in low-flow CCSF. The low-flow fistulae exhibit less specific clinical signs and are harder to distinguish using the noninvasive radiological methods of computed tomography (CT) and magnetic resonance imaging (MRI). The impact of our findings on future approaches to the diagnosis and follow-up of these different types of acquired vascular shunts is also discussed. The conclusions were as follows: a) TCD parameters (blood flow velocity and pulsatility index) for CCSF are specific, and are thus valuable in the hemodynamic assessment of these lesions. b) Since dural CCSF feature more subtle hemodynamic changes and CT and MRI findings may be normal, these cases pose diagnostic challenges. In these situations, TCD reveals specific diagnostic findings and allows the examiner to determine whether cerebral angiography is indicated.     

The clinical course of IgA nephropathy after kidney transplantation and its management

Immunoglobulin (Ig) A nephropathy is one of the most common primary glomerulonephritides worldwide causing end stage renal disease in up to 20–40% of affected patients, nearly two decades post diagnosis. Kidney transplantation is the treatment of choice for patients with renal failure, secondary to glomerular diseases. However, IgA nephropathy has a strong tendency to recur in the graft, and although initially thought to be a benign condition, several reports of graft loss, due to recurrent IgA nephropathy, there have been over the last three decades. Overall graft survival has been significantly improved in kidney transplantation, as a result of reduced incidence of acute rejection, as more potent and more specific immunosuppressive agents are now available in clinical practice. Thus, the rates of IgA nephropathy and other glomerulonephritides recurrence are expected to increase, since graft survival has been improved. However, the reported incidence of IgA nephropathy recurrence in the graft varies substantially across centers, as a consequence of different levels of interest, diverse biopsy policies and differing durations of follow up, of the published studies. Notably, recurrence rates of patients receiving graft biopsies by clinical indication only, ranges from 13% to 50% with graft loss being between 1.3% and 16%. The aim of this review is to underline important pathogenetic insights of IgA nephropathy, describe the clinical course of the disease after kidney transplantation, with emphasis on the incidence of recurrence and the associated risk factors, and finally provide all available options for its management in transplant recipients.     

Diagnosis and management of spinal infections

The number of spinal infections has been increasing due to aging populations and larger numbers of immunocompromised hosts and intravenous drug users. Magnetic resonance imaging is a useful tool for the early diagnosis of spinal infections, and can yield positive findings just 3–5 days after disease onset. Before antibiotic administration, cultures must be initiated from blood and from specimens collected from the locus of infection. Based on the pathogens identified by culture, appropriate antibiotics should be selected with careful consideration of antimicrobial susceptibility and spinal tissue penetration. Antibiotic treatment of spinal infections should be continued for longer than for most other types of infections, although the optimal duration remains unknown. The indications for surgical treatment include progressive neurologic deficits, progressive deformity, spinal instability, persistent or recurrent infection, and unbearable pain. In most patients with spinal infection, the gold standard surgical treatment is anterior radical debridement followed by autologous strut bone grafting. The addition of posterior instrumentation has recently become popular. This procedure may be performed alone as an alternative surgical option in patients in poor condition, and if it dramatically reduces pain, subsequent observation may be reasonable. If progressive deformity is observed or pain relief is inadequate after posterior instrumentation, additional anterior debridement and bone grafting should be scheduled.     

Skull metastasis from hepatocellular carcinoma

Summary Metastasis to the skull frequently occurs in patients with lung, breast and prostate cancer. However, skull metastases from hepatocellular carcinoma (HCC) have been rarely reported. We review the literature on skull metastasis from HCC and report a case of a 46-year-old male, who was diagnosed as HCC and was operated on by trans-arterial embolization and lobectomy in Oct. 2004. He complained of a painless mass over the left frontal region for two months. Radiograph of the skull revealed an osteolytic mass about 4–5 cm in size over the left frontal region. A cranial computerized tomography demonstrated a destructive lesion with soft tissue mass over the left frontal region. A left frontal craniectomy was performed and tumor was totally removed. The histological diagnosis was cranial metastasis from HCC. Postoperative recovery was uneventful without any neurological deficits. Because of improved and advancing treatment for HCC, survival time for HCC has been lengthened and distant metastasese will thus be found to increase. Early diagnosis is essential to treat the primary disease. Skull metastases from HCC should be considered as a differential diagnosis in patients with scalp subcutaneous mass and osteolytic defect on X-ray skull films.     

Primary malignant lymphoma of the cranial vault

Summary A 60-year-old woman presented with a subcutaneous mass on her scalp. Computed tomography (CT) showed a homogeneously enhanced mass of the parietal bone with both intra- and extra-calvarial extension and having destroyed the right parietal bone. The mass was hypointense on the T1-weighted magnetic resonance image, slightly hyperintense on the T2-weighted image and homogenously enhanced with Gd-DTPA. Bone scintigraphy showed prominent accumulation of radioisotopes in the scalp lesion. The tumour was removed, including the involved bone and dura mater. Histologic diagnosis was non-Hodgkin’s B-cell lymphoma, and tumour cells had infiltrated into the dura mater. The patient was treated with radiotherapy and chemotherapy. She returned to ordinary daily life and has been well without recurrence for 3 years. Although primary malignant lymphoma of the cranial vault is rare, it should be considered in the differential diagnosis when a mass is encountered in the cranial vault. We have found only fourteen such cases in the literature, and we review these cases.     

A New Procedure for Frameless Computer Navigated Stereotaxy

Summary ? Objective. Stereotactic procedures using frame-based systems have become well established in neurosurgery. Later, stereotactic computers have provided the neurosurgeon with a broader range of applications. A new, frameless stereotactic guide which utilizes the navigational abilities of a computer has been developed. This clinical study evaluates the accuracy and safety of the system when applied for puncture of tumours and abscesses in the cerebrum.  Methods. Using a frameless setup 36 patients were operated on for a total of 39 intracranial processes over a period of two years. Three patients were operated on twice. Computer data, time of surgery, anesthesia, complications, tumour localization and tissue examinations were recorded.  Results. Biopsies were obtained from all lobes of the cerebrum and a diagnosis established in all cases except two. Mean age and total range was 52 years and 15–82 years, respectively. Median time of surgery was approximately 60 minutes including positioning of the patient and the registration process on the stereotactic computer. Local anesthesia was used for 25 operations and general anesthesia for 14 operations. There was one postoperative abscess formation in a previously immunosupressed patient and a per-operative epileptic seizure caused by electrocoagulation of the dura in a second patient.  Conclusions. Based on this clinical study a new procedure for obtaining stereotactic biopsies of intracranial processes is introduced. All tumours were successfully reached with two cases of complications.     

The origin of brain metastases in patients with an undiagnosed primary tumour

Summary Background. In patients presenting brain metastases as the first manifestation of a previously undiagnosed primary tumour (UDP) histopathological confirmation of the diagnosis can be obtained by either direct surgical sampling of the brain lesion or paraclinical search for an accessible primary tumour. The sequence of the diagnostic work-up and the timing of an eventual neurosurgical intervention are a matter of debate and are mainly influenced by the distribution of primary tumours in UDP patients. The aim of this study was to verify the hypothesis that the distribution of primary tumours differs between UDP patients and the rest of the patients with brain metastases (DP), and to propose a diagnostic work-up specifically tailored to the UDP population.Methods. Retrospective study on 342 patients admitted to the Lausanne University hospital between 1983 and 1998 with the diagnosis of cerebral metastases.Findings. UDP patients represented 36% of the whole group. Primary tumour location was significantly different between the two groups (p=0.001). Although the lung was the most frequent primary tumour location in both groups (UDP: 60%, DP: 43%), in UDP 14% only of the primaries were found outside of the lung and as much as 26% remained unknown despite thorough investigations.Conclusions. Our study confirmed the hypothesis that the relative frequency of primary tumours differs between DP and UDP patients. This difference therefore mandates a diagnostic strategy specifically tailored for UDP patients: if a radiological lung investigation clearly remains the best initial step in the work-up of these patients, extensive paraclinical investigations without a clear clinical suspicion should probably not be undertaken if this first survey fails to disclose the primary tumour as only 14% of the patients will actually benefit from it. In this situation, a neurosurgical procedure should probably be considered the most appropriate next step to be taken in order to provide a definitive diagnosis without unnecessary delays.     

An unusual use for the arthroscope

In recent years, arthroscopy has gained importance in the diagnosis and treatment of patients with a painful knee (Ireland et al., 1980; Dandy, 1981). An important application of the arthroscope is in the removal of loose bodies from the knee, and endoscopy has also proved to be more accurate in diagnosis than more conventional methods (Dandy and O'Carroll, 1982). The identification and removal of foreign bodies from soft tissues and joints can be difficult. In addition to conventional radiography, other more specialized techniques including stereotaxis (McFadden, 1972) have been applied to this condition.We report 2 cases in which arthroscopy proved to be invaluable in the location and removal of a foreign body from the soft tissues around the knee.     

An endoscopically proven ventriculitis-type, cyst-like intraventricular primary lymphoma of the central nervous system

Summary Primary ventriculitis form of primary CNS lymphoma (PCNSL) is very rare and difficult to diagnose from radiological findings. A 55-year-woman presented with a cystic mass in the lateral ventricle without evidence of demonstrable malignant cells in the cerebrospinal fluid (CSF). The endoscopic biopsy showed a ventriculitis-like thin web on the surface of the ventricular wall around the foramen of Monro, resulting in obstruction. Pathological diagnosis was non-Hodgkin’s lymphoma, B cell type. This case suggests that PCNSL should be considered as a differential diagnosis for a cystic ventricular lesion even with no malignant cells in the CSF.     

Juxtafacet Cyst of the Lumbar Spine. Clinical, Radiological and Therapeutic Aspects in 28 Cases

Summary  Object. A consecutive series of 28 “operated” juxtafacet cysts is reported. We emphasize the clinical and radiological aspects leading to diagnosis. We also discuss the results of the surgical treatment.  Material and Methods. Medical information and radiological studies involving 28 patients were analyzed. Each patient has been operated on by decompressive laminectomy and resection of the cyst. The diagnosis was always confirmed by a pathological examination. The cyst most frequently occurred at the L4-L5 level (n=18), and seldom at the L5-S1 (n=6) or L3-L4 (n=4) levels.  Results. The differential diagnosis from other pathological causes responsible for a radicular compression could not be done by physical examination. Spine X-rays or myelogram were nonspecific. Computed Tomography or CT-myelography could help in the diagnosis but MR imaging was the most sensitive. In our series, the respective sensitivities of these techniques are 56, 42 and 77%. The preoperative diagnosis was correct in 18 patients (64%). The cyst was sometimes adherent to the underlying dura, then significantly increasing the risk of dural tear and spinal fluid leak, especially when located at L3-L4 level. Surgical ablation lead to a complete recovery or an important improvement in 26 patients.  Conclusions. The diagnosis of the juxtafacet cyst of the lumbar spine is better achieved by MRI. Surgery is the gold standard treatment, safe and long-term effective. When a total cyst removal with an internal facetectomy are performed, recurrence is exceptional.     

Kinematics in the diagnosis of meniscal lesions

We have studied the findings at operation of 336 knees with a preoperative diagnosis of a meniscus lesion.In 146 knees operated on by three surgeons, after a detailed history and clinical assessment, the findings confirmed the preoperative diagnosis in 116 knees (79.5 per cent). In 47 knees operated on after double contrast arthrography, the diagnosis was confirmed in 43 knees (91.5 per cent). In 50 knees operated on after a study of the instant centre of pathway, the diagnosis was confirmed in 45 knees (90 per cent).We found an improvement of preoperative diagnosis of up to 95.5 per cent when the combination of instant centre of pathway and arthrography were positive in 89 out of 93 knees.