[Neurosarcoidosis - diagnosis, clinical picture and therapy]. / Neurosarkoidoza ­ diagnostyka, obraz kliniczny i leczenie.

Sarcoidosis (SA) is a granulomatous, multisystem disease of unknown etiology. Most often the disease affects lungs and mediastinal lymph nodes, but it may occur in other organs. Neurosarcoidosis (NS) more commonly occurs with other sarcoidosis forms, in 1% of cases it involves only nervous system. Symptomatic NS occurs but on autopsy study up to 25% of cases are confirmed. NS can affect central nervous system: the brain, spinal cord and peripheral nerves, and muscles. The diagnosis of neurosarcoidosis facilitates diagnostic criteria: histopathological, imaging and cerebrospinal fluid examination, and clinical symptoms. At present, there are no set standards for treatment of patients suffering from NS. Early therapy of symptomatic patients is recommended. Corticosteroids still are the first line of treatment for NS patients. In cases of steroids resistance, lack of their effectiveness or existence of contraindication to their use, immunosuppressant treatment is recommended. The latest NS algorithm with immunosuppressive treatment is discussed.

Pulmonary anthracosis mimicking lung metastases in pediatric rhabdomyosarcoma.

Although childhood rhabdomyosarcoma typically metastasizes to lungs, various processes may mimic metastatic etiology. Described herein is the case of an 8½-year-old boy with orbital embryonal rhabdomyosarcoma (RME) in whom three small foci were detected within both lungs on computed tomography. The lesion number and size, however, did not fulfil the Cooperative Weichteilsarkom Study Group 2006 protocol criteria for lung metastasis. Chemotherapy for localized RME produced primary tumor regression and vanishing of the left lung lesion. Two lesions in the right lung remained unchanged. On thoracoscopy multiple minute nodules disseminated in both lungs were detected. Histopathology excluded RME spread but indicated anthracosis in the lung parenchyma and intrapulmonary lymph nodes. Heavy smoking by parents and previous home furnace combustion appeared to be predisposing factors. Uncommon non-malignant intrapulmonary diseases, including anthracosis, should be considered when staging pediatric cancer.

Overview of neurosarcoidosis: recent advances.

Sarcoidosis (SA) is a granulomatous, multisystem disease of unknown etiology. Most often the disease affects lungs and mediastinal lymph nodes, but it may occur in other organs. Neurosarcoidosis (NS) more commonly occurs with other sarcoidosis forms, in 1 % of cases it involves only nervous system. Symptomatic NS occurs but on autopsy study up to 25 % of cases are confirmed. NS can affect central nervous system: the brain, spinal cord and peripheral nerves, and muscles. The diagnosis of neurosarcoidosis facilitates diagnostic criteria: histopathological, imaging and cerebrospinal fluid examination, and clinical symptoms. At present, there are no set standards for treatment of patients suffering from NS. Early therapy of symptomatic patients is recommended. Corticosteroids still are the first line of treatment for NS patients. In cases of steroids resistance, lack of their effectiveness or existence of contraindication to their use, immunosuppressant treatment is recommended. The latest NS algorithm with immunosuppressive treatment is discussed.

Pseudo-stroke manifestation of multiple myeloma: a report of two cases with literature review.

Multiple myeloma rarely presents with neurological symptoms. We describe two patients with pseudo-stroke manifestation of multiple myeloma. The first patient was a 60-year-old female with the initial presentation of multiple myeloma forming a large skull tumour compressing the brain with resultant symptoms of aphasia, limited logical contact and right upper extremity paresis. The second patient was a 69-year-old female who presented with a partial motor epileptic seizure involving both right limbs with persisting weakness of muscles and speech disturbances due to a skull tumour 4 years after the diagnosis of multiple myeloma. Pseudo-stroke manifestation of multiple myeloma is extremely uncommon, however it can sometimes be observed both as an initial presentation and in the course of long-lasting disease.

[Nonchromaffin paragangliomas (chemodectoma) of the middle ear in the material of the ENT Department Medical University of Gdansk]. / Przyzwojaki niechromochlonne (chemodectoma) ucha srodkowego w materiale Kliniki Gdanskiej.

INTRODUCTION: Nonchromaffin paraganglioma (chemodectoma) is the most common neoplasm of the middle ear. The diagnosis and treatment is one of the most challenging in otolaryngology. THE AIM OF THE STUDY: was clinical and epidemiological analysis of patients with nonchromaffin paraganglioma of the middle ear. MATERIAL AND METHODS: The material consisted of 13 patients (10 females, 3 males), age 19-62 years, treated for paraganglioma of the middle ear in the ENT Department Medical University of Gdansk between 1968 and 2009. We analyzed the symptoms and results of additional diagnostic tests necessary to establish the diagnosis. RESULTS: We have diagnosed 12 cases of benign chemodectoma (92.3%) and 1 case of chemodectoma malignum (7.7%). The surgical treatment was applied in 6 patients (46.1%), 4 patients (30.8%) received complementary radiotherapy and 3 patients (23.1%) were treated only with radiotherapy. CONCLUSIONS: The diagnosis of paragangliomas of the ear is difficult and should be based on clinical data, audiometric tests, CT, MRI and histological examination. Surgical treatment of paragangliomas is limited to early stages of the disease. The results of the research show that the best therapeutic method in advanced cases is surgical treatment with complementary radiotherapy.

[Epidural abscess as a complication of acute mastoiditis in a 7-year-old child]. / Ropien nadtwardówkowy jako powiklanie ostrego zapalenia wyrostka sutkowatego u 7-letniego dziecka.

INTRODUCTION: Epidural abscess is the commonest intracranial complication of acute mastoiditis. In some cases this entity may pose a diagnostic problem. MATERIALS AND METHODS: We report a case of acute mastoiditis followed by an epidural abscess in the middle cranial fossa and a bone fistula to subtemporal fossa. Localization of the abscess was revealed by means of computed tomography and magnetic resonance imaging of the head in early stage of the disease. RESULTS: The treatment of choice was mastoidectomy with epitymanotomy, myringostomy, revision of zygomatic area to ensure drainage of the epidural abscess and intravenous antibiotics. After two years of observation the child is in a good condition with normal hearing. CONCLUSIONS: Osteolysis visualized on CT scan may suggest an intracranial complication occurrence. MRI should be performed to determine the precise localization of the abscess.

[Osteomas and exostoses of external auditory canal in material of Otolaryngology Department Medical University of Gdansk]. / Kostniaki i wyrosla kostne przewodu sluchowego zewnetrznego w materiale Kliniki Otolaryngologii Gdanskiego Uniwersytetu Medycznego.

INTRODUCTION: Osteomas and exostoses of the external auditory canal are benign tumours arising in bones, leading to its obstruction and causing hearing loss. The treatment of these entities may present a therapeutic dilemma. AIM OF THE STUDY: To assess epidemiological and clinical data and surgical treatment effectiveness. SUBJECTS AND METHODS: The study group consisted of 21 patients (14 men and 7 women) between 18 to 63 years of age, treated in the Otorhinolaryngology Department of Medical University of Gdansk from 1995 to 2009. The results of audiometric, radiological and histopathological examination were taken into consideration. RESULTS: Unilateral osteomas developing in tympanosquamous suture in 5 patients, in tympanomastoid suture in 4. Bilateral exostoses occured in 12 patients in anterior, posterior and inferior wall of the external auditory canal. In all patients: conductive hearing loss ranged from 15 to 30 dB (average 29.9 dB), in 6 patients with concomitant sensorineural component. Osteomas were removed via intrauricular approach according to Mawson-Goodhill's method. Exostoses were removed via intrauricular, intracanal or postauricular approach. Histological examination confirmed benign overgrowth of compact and trabecular bone. The auditory canal was successfully reamed, the hearing improved in all patients. CONCLUSIONS: Osteomas are benign tumours leading to obstruction of the external auditory canal. Exostosis is the overgrowth of the external auditory canal's compact bone in adults. Osteomas and exostoses may lead to hearing loss. Indications to surgical treatment are ear pain, progressive hearing loss and recurrent otitis external.

Poor-risk high-grade gliomas in three survivors of childhood acute lymphoblastic leukaemia--an overview of causative factors and possible therapeutic options.

PURPOSE: Malignant high-grade gliomas are the most common secondary neoplasms in children cured of acute lymphoblastic leukaemia (ALL). Although many predisposing factors exist (including systemic or intrathecal chemotherapy, young age, brain infiltration and genetic predispositions), cranial irradiation appears to be the strongest one. METHODS: Three cases of secondary high-grade gliomas (two multiform glioblastomas, grade IV; one anaplastic astrocytoma, grade III) developed in ALL survivors (F-M, 1:2) 3 to 6.3 years after stopping ALL therapy according to BFM-90 trial. RESULTS: All tumours were supratentorial, contrast-enhancing, space-occupying, highly advanced and aggressive. Possible risk factors and current therapeutic options for paediatric ALL and malignant gliomas are reviewed and discussed. CONCLUSIONS: Prognosis in secondary malignant gliomas in children is poor (overall survival of 5, 10 and 19 months) despite intense therapy. Thus, protocols for paediatric ALL reduce prophylactic cranial irradiation in favour of intrathecal and intravenous high-dose MTX. Nevertheless, ALL survivors must undergo systematic, long-term surveillance for early detection of intracranial neoplasms.

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

We report on a 4-year-old boy with a proximal interstitial deletion in the short arm of chromosome 4p with the karyotype 46,XY,del(4)(p14p15.32),inv(9)(p13q13). For a precise delineation of the deleted region, an array-based comparative genomic hybridization (a-CGH) analysis was performed. The proband's phenotype and cytogenetic findings are compared with previously reported cases with proximal 4p deletion syndrome. The syndrome is associated with normal growth, varying degrees of mental retardation, characteristic facial appearance and minor dysmorphic features. Additionally, our patient developed a seizure disorder due to abnormal neuronal migration, i.e., periventricular heterotopia.

[Primary cholesteatoma of the middle ear and petrosal bone]. / Perlak pierwotny ucha srodkowego i szczytu piramidy.

Petrosal cholesteatomas are rare lesions, which may be primary or acquired in nature. We report a case of primary cholesteatoma in petrous bone occurring in 51-year old woman who presented with a unilateral facial nerve palsy and conductive hearing loss, despite normal tympanic membrane appearance. Early diagnosis was facilitated by computed tomography scanning and magnetic resonance imaging. Complete cholesteatoma removal was accomplished using a transtemporal supralabyrinthine approach, which allowed hearing preservation. Facial nerve function is the main complication of these lesion. We suggest that use of CT scanning and MRI in unilateral conductive hearing loss may allow the earlier detection of the most cases of petrosal cholesteatomas.

[Post-traumatic cholesteatoma of temporal bone]. / Perlak pourazowy kosci skroniowej.

Posttraumatic cholesteatoma of the middle ear is a rare condition that may present years after temporal bone fracture. We present the 36 years old woman with acquired cholesteatoma of the middle ear and perilymphatic fistula six years after a temporal bone fracture. CT scan was extremely helpful in determining the sites of fracture and fasioning the surgical approach. The middle ear was cleaned with cholesteatoma, perilymphatic fistula was sealed with 3 layers of tissues and the ossicular chain was reconstructed in one stage. The presence of fracture lines in temporal bone years after trauma may prove hindered healing, which promotes migration of epithelium from external ear canal into the middle ear. We recomend long term follow-up in any patient with longitudinal temporal bone fracture with CT for any new otologic complaints.

Sarcomas in children with neurofibromatosis type 1-poor prognosis despite aggressive combined therapy in four patients treated in a single oncological institution.

OBJECTS: Patients with neurofibromatosis type 1 (NF1) are predisposed to developing soft tissue sarcomas (STS). MATERIALS AND METHODS: We report on four cases of STS diagnosed in locally advanced, unresectable stages in children with NF1 (three girls, one boy; age = 8 months-14 years). All patients received protocols for STS: Cooperative Weichteilsarkomstudie 91, 96 and 2002. One patient with limb rhabdomyosarcoma entered complete remission but developed late metastatic relapse and died of progression despite complete excision and autologous bone marrow transplantation. The other patient with bladder rhabdomyosarcoma died of neutropenia-related sepsis without remission. Patients with malignant peripheral nerve sheet tumour and malignant triton tumour located in the pelvis did not respond to therapy. One of them died of disease progression, while the other is disease-free 6 years post-therapy after mutilating tumour resection. CONCLUSION: STS in NF1 seem to display poor prognosis in spite of combined therapy; thus, children with NF1 should remain under detailed control of the oncologist.

Mycobacterial heat shock protein-induced blood T lymphocytes subsets and cytokine pattern: comparison of sarcoidosis with tuberculosis and healthy controls.

BACKGROUND AND OBJECTIVE: Sarcoidosis (SA) is a disorder of unknown aetiology. Mycobacterium tuberculosis heat shock proteins (Mtb-hsp) have been considered as causative agents of SA. The role of Mtb-hsp in the immune response in SA has not been investigated. METHODS: Mtb-hsp-stimulated T-cell subsets and Th1/Th2 cytokine patterns in the supernatant from peripheral blood mononuclear cell cultures from 22 SA patients, 20 tuberculosis (TB) patients and 20 healthy volunteers were compared using flow cytometry. RESULTS: In unstimulated cultures, a significantly higher percentage of CD8(+)alphabeta(+)T-cells were present in SA versus controls. Similarly there was a significantly increased IL-6 and decreased IL-4 level in SA and significantly lower INF-gamma, IL-2, IL-4, IL-10 production in TB versus controls. After Mtb-hsp stimulation, there was a significantly increased TNF-alpha, IL-6, IL-10 and decreased INF-gamma, IL-2, IL-4 production in SA and significantly increased TNF-alpha, IL-6 concentrations in TB versus controls. CD8(+)gammadelta(+)IL-4(+)T-cells were detected significantly less often in Mtb-hsp-induced cultures in SA versus controls. Comparing SA versus TB, CD4(+)gammadelta(+)TCR-cells were significantly increased in Mtb-hsp-induced cultures in TB versus controls and SA. Before stimulation, significantly increased IL-6, IL-10 and decreased IL-4 level in SA versus TB was revealed, whereas Mtb-hsp stimulation caused significantly increased IL-10 and decreased IL-4 concentrations in SA. CONCLUSIONS: After Mtb-hsp stimulation, increased levels of pro-inflammatory cytokines, TNF-alpha and IL-6 were found in sera from SA and TB patients in comparison with healthy controls; SA patients demonstrated the lowest levels of IL-4 and the highest levels of IL-10.

[Complications of acute mastoiditis in children]. / Powiklania ostrego zapalenia wyrostka sutkowatego u dzieci.

OBJECTIVE: The incidence of complications resulting from acute otitis media has significantly decreased since the introduction of antibiotics. The use of antibiotics has lead to decrease in the complications of acute mastoiditis as well as the mortality of the disease. The purpose of the study was to review our experience in the diagnosis and treatment of complications of acute mastoiditis in children. Study design. Retrospective clinical study. MATERIAL AND METHODS: We present a retrospective study of 70 children with extracranial and intracranial complications of acute mastoiditis who were treated in the period from 1968 to 2006 at Department of Otolaryngology, Medical University of Gdansk. Their treatment has been documented with long period of otologic follow-up. RESULTS: Extracranial complications occurred in 41 (30.4%) of treated acute mastoiditis cases, and subperiostal abscess was the commonest one in 37 (90.2%) patients. Intracranial complications occurred in 29 (21.4%) of acute mastoiditis cases and facial paralysis was the commonest one in 14 (40.0%) cases, followed by sigmoid sinus thrombosis and perisinus abscess. Ear cultures grew in patients with otogenic complications, the most often Staphylococcus aureus, Streptococcus sp. and Pseudomonas aeruginosa were found. Mastoidectomy with myringotomy resolved the disease in 46 (65.7%) children, only myringotomy in 6 (8.6%) and canal wall down mastoidectomy in 18 (25.7%) children. Complete resolution was achieved in all cases. CONCLUSION: The persistent othorrea, otalgia and headache, prolonged high fever, neurological signs were the most common symptoms associated with the development of intracranial complications of acute mastoiditis in children. Computed tomography and MRI are necessary tools for diagnosis and surgery planning in every case of latent mastoiditis. Antibiotic treatment of acute mastoiditis does not prevent otogenic complications. Extracranial or intracranial complications of acute mastoiditis need surgical treatment and prolonged antibiotic therapy. The present study found evidence for decreased incidence of mastoiditis and their suppurative complications during last years.

Cerebellopontine angle tumours: radiologic-pathologic correlation and diagnostic difficulties.

A group of 119 cases of cerebellopontine angle (CPA) tumours was studied looking at the pathological composition, relative incidence of tumour types, their radiological features and the pathological-radiological correlations. Tumours with preoperative radiological diagnosis and verified pathologically were analyzed. Histopathologically the material consisted of 77 schwannomas and 42 non-acoustic tumours. Radiological retrospective evaluation of CT and/or MRI documentation was performed in 84 patients. The tumours were classified according to Koos's staging scale. Diagnostic discrepancies (histopathological vs radiological) according to the clinical stage of CPA tumours were analyzed. In our series non-acoustic tumours made up 37% of CPA lesions. Sharp tumour-pyramis angle and intracanalicular fraction are not exclusive features of schwannomas. Tumours in stage IV are the most heterogeneous and diagnostically difficult group.

Mycobacterium tuberculosis complex and mycobacterial heat shock proteins in lymph node tissue from patients with pulmonary sarcoidosis.

We demonstrated that not whole Mycobacterium tuberculosis but its particular antigens, hsp70(Mtb), hsp65(Mtb), and hsp16(Mtb), are present in lymph node tissues of patients with sarcoidosis (SA). hsp16(Mtb) occurs in the early stage of SA, whereas hsp70(Mtb) occurs in stage II of SA. hsp65(Mtb) is highly expressed in the capillary vessels in lymph node tissues in patients with SA.

Otitic hydrocephalus associated with lateral sinus thrombosis and acute mastoiditis in children.

The incidence of intracranial complications of acute otitis media (AOM) has decreased and the need for operative and medical treatment is declined during the antibiotic era. To describe pathognomonic signs, evaluation management, operative findings, clinical course and outcome of otitic hydrocephalus and lateral sinus thrombosis as complications of AOM and mastoiditis in pediatric patients. Two children, 9 and 13 years old, with the diagnosis of OH and TK and MRI findings are presented. Intracranial complications in children resulted from unsuccessful treatment of AOM, which led to acute mastoiditis and lateral sinus thrombosis. Both of the presented children had thrombus in their sigmoid sinus preoperatively, demonstrated by MRI, causing decreased blood flow. Both patients underwent a mastoidectomy and delamination of sigmoid sinus with puncture of sinuses. After medical and surgical treatment, blood flow through the sinus increased significantly. In both cases signs of increased intracranial pressure ceased. The clinical presentation of otogenic lateral sinus thrombosis (LST) as a complication of acute otitis media (AOM) can be masked by antibiotic treatment. The episodes of vomiting, headache, visual impairment and a history of AOM seem to be indicative for otitic hydrocephalus. MRI scans of patients with similar symptoms should be carefully studied to facilitate the early diagnosis of dural sinus thrombosis with increased intracranial pressure. Contrast-enhanced computed tomography scan and magnetic resonance imaging play a major role in determining diagnosis and treatment plans in this intracranial complications. Management included systemic antibiotics, short-term heparin anticoagulation and surgical decompression. In our patients intensive i.v. antibiotic treatment, steroids, anticoagulants and surgery led to a significant improvement in the clinical condition.

Comparative analysis of mycobacterial heat shock proteins-induced apoptosis of peripheral blood mononuclear cells in sarcoidosis and tuberculosis.

Sarcoidosis (SA) is a granulomatous disorder of an unknown etiology. Mycobacterium tuberculosis heat shock proteins (Mtb-hsp), considered as causative agents, play an important role in apoptosis. A role for apoptosis has been proposed in pathogenesis of SA and tuberculosis (TB) granuloma formation but results remain controversial. Differences in Mtb-hsp-induced apoptosis between SA, TB, and healthy subjects found in this study might put some light on the etiology of SA. Early apoptotic peripheral blood mononuclear cells (PBMC) were determined in 22 SA patients, 20 TB patients, and 20 healthy volunteers by flow cytometry (Annexin-V-FITC). Our results revealed that spontaneous apoptosis of monocytes and CD8+ T-cells was comparable between tested groups. Apoptosis of unstimulated CD4+ T-cells was significantly lower in TB versus controls and insignificantly lower versus SA. Mtb-hsp- and PHA (Phytohemagglutinin)-induced monocytes apoptosis was significantly lower in TB versus controls and SA. Mtb-hsp-induced CD4+ T-cell apoptosis was significantly lower in TB versus controls and SA. There were no differences of PHA-induced CD4+ T-cell and CD8+ T-cell apoptosis between tested groups. Apoptosis of Mtb-hsp-induced CD8+ T-cells was significantly lower in TB and SA versus controls. Analysis of PBMC apoptosis before and after stimulation in each tested group revealed that, in contrast to TB, sarcoid monocytes were resistant to Mtb-hsp- and PHA-induced apoptosis and CD4+ T-cells were resistant to PHA- but not Mtb-hsp-induced apoptosis. CD8+ T-cell apoptosis, before and after Mtb-hsp or PHA stimulation, was significantly increased in all tested groups. It seems likely that dysregulated apoptosis of CD4+ T-cells and resistant apoptosis monocytes may be involved in pathogenesis of SA.

Comparative analysis of DR and DQ alleles occurrence in sarcoidosis and tuberculosis in the same ethnic group: preliminary study.

BACKGROUND: Pathologic similarities between sarcoidosis (SA) and tuberculosis (TB) suggest M. tuberculosis antigen(s) as causative agents. It seems likely that in the genetically different predisposed hosts, the same antigen(s) may cause the development of sarcoid or tuberculous Th1 response. AIM AND MATERIALS/METHODS: To test a difference in haplotypes associated with both diseases, we compared the distribution of DRB1, DQA1 and DQB1 alleles in 45 SA patients, 62 TB patients and in 143 healthy volunteers, using a PCR-SSP method. RESULTS: Our results revealed that DRB1*03/*11, DQB1*02, DQA*0501 in Stage I of SA with Löfgren's syndrome (Ls) and DRB1*15, DQA1*0102/*0103 in Stage II of SA were more common, whereas DQA1*0102 (Ls) and DRB1*16/*04/*08, DQB1*03/*04/*05/*06, DQA1*0301 (Ls, Stage II) were less common than in the controls. Nevertheless, after Bonferroni correction, only DRB1*04, DQB1*02/*03/*05/*06, DQA1*0102/*0301/*0501 differed significantly. In TB group, DRB1*16/*14, DQB1*05, DQA1*0303 were more frequent and DRB1*11, DQB1*02, DQA1*0201/*0505 less frequently present as compared to the controls, but frequency of DRB1*16, DQB1*02/*05 and DQA1*0303/*0505 only was significantly different after correction. After correction in both Stages of SA, DRB1*11 was more common and DRB1*16/*04/*14, DQB1*03/*05, DQA1*0301/0302/*0303 were less frequent than in the TB group. DQB1*02, DQA1*0201/*0501 (Ls) and DRB1*15/*13 (Stage II) were more frequently present in SA than in TB, but after correction, only DRB1*15, DQB1*02, DQA1*0501 were significantly different. CONCLUSIONS: We identified associations of HLA class II alleles in SA and TB with expression pattern specific and different for each group. In most cases, in SA patients frequency of HLA class II alleles occurrence is opposite to the frequency in TB patients.