1/20. Lipoid proteinosis of the larynx.Lipoid proteinosis is a rare disease that presents with hyaline deposits in many tissues. It involves predominantly the skin and upper aerodigestive tract, presenting with small yellowish papules and hoarseness. It may involve the central nervous system and cause intracerebral calcifications. Laryngeal lesions may resemble singer's nodule or chronic laryngitis. The pathogenesis of the disease is not clear although several studies suggest a defective collagen production and/or lysosomal storage disease. In this article two cases with skin and larynx involvement are reported.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/20. Report of a Turkish child with Sjoren-Larsson syndrome associated with peripheral nerve involvement.Sjoren-Larsson syndrome is a rare hereditary neurocutaneous disorder characterized by ichthyosis, spastic di- or tetra-plegia, and mild to moderate mental retardation. In this article, we present a nine-year-old girl with the classical features of the syndrome associated with peripheral nerve involvement because of its rare presentation. To the best of our knowledge, only three cases of Sjoren-Larsson syndrome with peripheral nerve involvement have been previously reported in the literature. We assume that Sjoren-Larsson syndrome involves extensive disorders of the ectodermal tissues, including the peripheral nerves as well as the skin and the central nervous system.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/20. Tuberculous otitis media with mastoiditis and central nervous system involvement.tuberculosis of the middle ear and mastoid is currently a rare disease in developed countries, but this disease still occurs and may cause serious consequences. We report a case of disseminated tuberculosis involving the middle ear, mastoid, lung and central nervous system. tuberculosis should be considered in the differential diagnosis of chronic ear drainage, especially in young children.- - - - - - - - - - ranking = 5keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/20. Multiple enchondromatosis Ollier's disease with two primary brain tumors.A rare case of multiple enchondromatosis associated with 2 primary brain tumors is reported. A 21-year-old female who has diagnosed as Ollier's disease at the age of 9-years was admitted to the hospital with complaint of diplopia and progressive right upper and lower limb weakness. magnetic resonance imaging of the brain depicted 2 intra-axial mass lesions. Stereotactic biopsy showed low grade fibrillary astrocytoma in both lesions. This report emphasizes that patients with Ollier's disease are at a higher risk for primary brain tumors than has been previously recognized.- - - - - - - - - - ranking = 2.311583285629keywords = brain (Clic here for more details about this article) |
5/20. Primary cerebral angiitis containing marked xanthoma cells with massive intraparenchymal involvement--case report--.A 27-year-old woman was referred to our hospital with mild disorientation, bilateral abducens nerve palsy, and mild left hemiparesis. Magnetic resonance (MR) imaging revealed diffuse mass lesions resembling malignant glioma in the right frontal intraparenchymal region, with enhancement of multiple meningeal and intraparenchymal nodules. Partial resection of the frontal lesion was performed. Histological examination revealed that the specimens consisted of brain tissue, with marked perivascular infiltration of histiocytes and sheets of xanthomatous cells. The diagnosis was primary cerebral angiitis containing marked xanthoma cells. Steroid therapy was administered over 1 week. MR imaging showed that the remaining lesions resolved gradually, and had disappeared 2 years after surgery. No neurological symptoms or recurrence of the tumor has been observed during the 6-year period since the operation.- - - - - - - - - - ranking = 0.33022618366129keywords = brain (Clic here for more details about this article) |
6/20. Fatal dengue encephalitis.central nervous system involvement is not an uncommon manifestation of dengue virus infection, but encephalitis is a rare entity. We report the case of a 5-year-old girl with fever and convulsions. She developed coma and shock during the high fever stage without abnormal bleeding.Treatment was supportive and symptomatic. The shock was poorly controlled. High fever persisted for 7.5 days then she expired.cerebrospinal fluid (CSF) and blood dengue-IgM antibody showed dengue infection.- - - - - - - - - - ranking = 0.24978016186834keywords = nervous system (Clic here for more details about this article) |
7/20. Extremely rare glioblastoma multiforme of the conus medullaris with holocord and brain stem metastases, leading to cranial nerve deficit and respiratory failure: a case report and review of the literature.BACKGROUND: Spinal glioblastoma multiforme (GBM) is an uncommon entity and metastases are extremely rare. glioblastoma multiforme of the conus medullaris is a rare and highly aggressive entity that can quickly progress to a dismal state. Proper diagnosis via histopathologic and immunochemical staining with close clinical and radiological follow-up is important for the management of this very aggressive tumor. CASE DESCRIPTION: The authors report the clinical features, histopathologic and immunochemical staining characteristics, as well as the radiographic evidence of a case of primary GBM of the conus medullaris with metastases to the whole spinal cord and brain in a 20-year-old man who presented with low back pain and bilateral lower extremity weakness and numbness. review of the pathology slides using histopathologic and immunochemical staining showed GBM. Serial magnetic resonance scans, performed after the initial surgery, demonstrated enlargement of the primary GBM in the conus medullaris with metastases to the thoracic and cervical spinal cord as well as to the brain. CONCLUSIONS: glioblastoma multiforme of the conus medullaris with such clinical findings is extremely rare. We analyze similar cases in the literature and discuss the importance of monitoring the progression of such an entity as well as the need for aggressive management of the different complications as they arise to maintain a good quality of life.- - - - - - - - - - ranking = 1.9813571019677keywords = brain (Clic here for more details about this article) |
8/20. Congenital hemihypertrophy with hemihypertrichosis.The rare condition in which one side of the body seems to grow faster than the other is called hemihypertrophy. This may be accepted as normal, but there are certain serious conditions that may be associated with this type of growth pattern. Congenital hypertrichosis is believed to be a genetic disorder that is inherited or occurs as a result of spontaneous mutation. The incidence of generalised congenital hypertrichosis is about one in a billion. A seven-month-old female case was brought to the hospital with growth and hairiness complaints, which were more apparent in the right side of the face, the right arm and the right leg. physical examination showed more apparent hypertrophy and hypertrichosis, which covered the entire right side of the body beginning from the face and including the lower extremities and the genitalia. hypertrichosis was more evident above the right scapula and on the right leg. The diameter of the right upper extremity and the right lower extremity were measured at 13 mm and 14 mm thicker than the left side, respectively. The infant did not have teeth yet and had totally normal nail growth. Skeletal structure, cardiovascular, respiratory, urogenital, central nervous system and eye examinations were all normal. Results of all laboratory analyses, including genetic examination, and those of the imaging techniques were found to be normal. We hereby present the rare co-presence of hemihypertrophy and hemihypertrichosis, for which we could not identify an etiological cause and which is the third such case in the literature.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/20. A rare case of paraneoplastic cerebellar degeneration discovered by whole-body F-18 FDG PET.A rare case of paraneoplastic cerebellar degeneration (PCD) in a 36-year-old woman is reported. She developed hyposthenia of the inferior limbs, diplopia, and disequilibrium in July 2001. Routine blood tests, tumoral markers, brain MRI, evoked potentials, and cerebrospinal fluid (CSF) examination were substantially normal. The clinical syndrome rapidly worsened in the following 2 months; she was wheelchair-bound with marked limb ataxia. CSF showed an increase of the IgG index with oligoclonal bands; brain MRI remained negative. The patient's serum and CSF were analyzed to detect antineuronal antibodies; anti-Yo antibodies were found that is typical of PCD. No tumor was found until April 2003; repeated CT scan, ultrasound, and mammographic examinations were negative. A further worsening in clinical symptoms was observed with a complete loss of autonomy (Rankin score 5) despite the performance of immunosuppressive therapy. In April 2003, an F-18 FDG PET scan visualized an area of abnormal uptake in the upper outer quadrant of the left breast. Interestingly, brain F-18 FDG uptake was normal. Suspicious microcalcifications were found on a new mammography and malignant cells were disclosed at cytology. The patient was operated on and final histologic examination revealed an infiltrating ductal breast cancer. In the reported case, F-18 FDG PET played a crucial role in detecting the unknown primary tumor in a young patient with PCD.- - - - - - - - - - ranking = 0.99067855098387keywords = brain (Clic here for more details about this article) |
10/20. fabry disease--a diagnostic and therapeutic problem.The authors present a patient with Fabry syndrome that remained undiagnosed for several years. Fabry syndrome is a genetic disease related to changes on the x chromosome. Its complex clinical presentation and diverse symptomatology is caused by deficient activity of lysosomal hydrolase alpha-galactosidase enzyme. Defect in the basic alpha-galactosidase molecule implies genetic change, which can be a predisposing factor for the development of atypical and typical forms of this genetic disease. In the presented case, clinical manifestation and hemizygous symptomatology were the evidence of metabolic and genetic irregularity, typical clinical presentation of fabry disease. Many authors report generalized vasculopathy as a basic characteristic of fabry disease and a causative factor of multiorgan changes. Some authors indicate that persons with diagnosed asymmetric hypertrophy of the left ventricle have decreased alpha-galactosidase. Cardiac complications, coronary disease, and acute myocardial ischemia are often present in cases of fabry disease, frequently causing death in such patients. Characteristic central nervous system symptoms with skin-burning sensation and paresthesia were also present in our case. Cerebrovascular complications were caused by changes on small blood vessels. Clinical signs of renal failure were nonspecific, and the diagnosis was based on extrarenal symptoms. Initial renal manifestations were insignificant as asymptomatic proteinuria and microhematuria, due to which our patient was referred to further examination. The level of alpha-galactosidase was significantly decreased. The severity and progression of this disease depends on the level of alpha-galactosidase enzyme in serum and its catabolic effect. More recent studies have showed that deficient enzyme can be synthetic zed and, accordingly our patient has been successfully enrolled in the replacement therapy program.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
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