1/22. Fetal intracranial tumors detected by ultrasound: a report of two cases and review of the literature.Two cases of fetal intracranial tumors detected prenatally by ultrasound, together with a review of the literature on this rare disease, are presented. Sonographic features, histopathological type and location of the tumors, sex distribution, associated anomalies and overall prognosis are described as well as obstetric and postnatal therapeutic management.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/22. Congenital intracranial teratoma.Congenital intracranial teratoma is a rare disease. A fetus with a congenital intracranial teratoma presenting with a disproportionately enlarged head at 27 weeks gestation is presented. Prenatal ultrasonography and fetal magnetic resonance imaging demonstrate a huge, heterogenous intracranial mass in the left supratentorial region, with the left cerebral hemisphere being compressed and flattened. The infant died of respiratory failure within 24 hours of birth at 28 weeks gestation. On postmortem examination the histologic report revealed an immature teratoma. Fetal MRI is helpful in the prenatal diagnosis and evaluation of intracranial tumor.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/22. Diagnosis and results of treatment with radiation therapy in gliomatosis cerebri patient: case report.Gliomatosis cerebri (GC) is a rare disease loosely defined as a diffusely infiltrating glioma involving extensive areas of the brain. The prognosis is poor and no definite treatment has proven effective for GC. Little information exists regarding the role of radiation therapy (RT) for GC, but some researchers have suggested that it is a good choice of treatment from their limited experience. In this report, we present a case with imaging and histological diagnosis of GC and demonstrate the treatment results of RT. The patient was a 39-year-old woman with progressive symptoms of dizziness, unsteady gait, headache, vomiting, and consciousness disturbance for 6 months. She received a series of radiographic examinations and surgical interventions for diagnosis. The definite diagnosis of GC was made by a combination of magnetic resonance imaging (MRI) findings and histological examinations. Forty Gray (Gy) of whole brain irradiation followed by 14 Gy reduced-field boosts were given to her. The MRI, following treatment, showed regressive changes, and clinical symptoms were slightly improved. The patient survived 19 months after the diagnosis, which is longer than the average survival time of patients without treatment.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/22. A case of primary bilateral adrenal lymphoma (PAL) with central nervous system (CNS) involvement.Primary adrenal lymphoma (PAL) is a very rare disease and usually does not have disease elsewhere, and if present, it is frequently extranodal. Several cases of PALs, with central nervous system (CNS) involvement, gastrointestinal tract or other endocrine organs involvement, have been reported in Western literature. We experienced a case of PAL with CNS involvement, which was previously unreported in korea. The patient, a 61 year-old male, was admitted with left abdominal pain. After imaging study and needle aspiration biopsy (NAB), a bilateral primary adrenal lymphoma (large B-cell type), with bilateral hemorrhage, was confirmed. Combination chemotherapy, with CEOP regimen, was used. A follow-up abdomino- pelvic CT scan, after the second CEOP chemotherapy, showed the previous adrenal masses had nearly disappeared. However, about 2 months after diagnosis (day 52), he showed recent memory loss, obtundation, disorientation and drowsy mental status. The brain MRI revealed multifocal scattered lesions with increased signal intensity. The result of a brain biopsy was diffuse large B-cell lymphoma. After 5(1/2) cycles of chemotherapy, with CEOP regimen, and whole brain radiotherapy, he is still surviving 6 months later, and has become alert with nearly normalized cognitive function.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/22. Intracranial paramedian hourglass-shaped dermoid associated with hereditary steatocystoma multiplex.This is the first report to describe the coexistence of two rare diseases, intracranial paramedian hourglass-shaped dermoid and steatocystoma multiplex. A 46-year-old female with a history of steatocystoma multiplex, bradydactylies and kyphosis showed oscillopsia, ataxia and hemifacial spasm. MRI findings suggested a giant dermoid cyst extending from the left middle temporal fossa to the cerebellopontine angle, and this was confirmed surgically. We propose the involvement of some genetic factor or pathological process common to both disorders, steatocystoma multiplex and dermoid. From the clinical point of view, patients with cystic skin lesion should also be checked for intracranial lesion.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/22. Cerebral metastasis from a primary adenocarcinoma of the fallopian tube.BACKGROUND: Primary adenocarcinoma of the fallopian tube is a rare disease, and cerebral metastasis from this tumor is an extremely rare event. CASE: A 61-year-old female, who had been thought to be in a disease-free state after the initial treatment for stage IIIc fallopian tube adenocarcinoma, presented with severe headache, dizziness, nausea, and vomiting. brain CT and MRI revealed solitary metastatic lesion in the cerebrum, which was the only site of recurrence. It was removed surgically, followed by platinum-based combination chemotherapy, and a clinical remission was achieved for 36 months. CONCLUSION: attention should be paid to the possibility of cerebral metastasis in patients who develop neurogenic signs and symptoms. Prolonged survival could be achieved with aggressive treatment containing surgical debulking and adjuvant chemotherapy for solitary cerebral metastasis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/22. Gliomatosis cerebri: a rare cause of progressive headache.A 49-year-old right-handed woman was admitted for an 8-month history of unusual headache and transient diplopia. Clinical examination and brain CT scan were normal. Two months later, symptoms of raised intracranial pressure developed and a brain CT scan showed small lateral ventricles and sulci without any abnormal contrast enhancement or tumor mass. brain MRI with T2-weighted spin echo sequences revealed a hyperintense signal in the right temporoparietal region, whereas only a slight enlargement of this region was noted on T1 spin echo. The patient deteriorated rapidly and died with uncontrollable raised cerebrospinal fluid pressure. The diagnosis of gliomatosis cerebri was made at necropsy. Gliomatosis cerebri is a rare intracranial neoplasm of neuroepithelial origin. Spread of this tumor is particularly fast in the white matter compared with the gray matter and nuclei. Clinical symptoms are not specific. The diagnosis can be suspected by MFU showing an isointense or hypointense signal in the deep white matter on T1-weighted images, and largely a hyperitense signal on T2-weighted sequences. The diagnosis is confirmed by stereotactic biopsy or necropsy. No curative treatment is currently available. radiotherapy can delay the rapidly fatal outcome. Our case illustrates the possible onset of this rare disease by isolated cephalgia with normal early CT scan.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/22. Megalencephalic leukoencephalopathy with subcortical cysts.Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease first described in 1995. It is characterized by macrocephaly and early onset white matter degeneration. We report two siblings who were diagnosed to have this disease. This disease must be included in differential diagnosis of macrocephaly with early onset leukoencephalopathy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/22. Subfrontal schwannoma.Subfrontal schwannoma is a rare disease, which can be mis-diagnosed as an olfactory meningioma or a neuroblastoma, because of similar clinical symptoms and signs and neuroradiological features. Especially for young subjects, olfactory neuroblastoma should be carefully differentiated, since the management strategies for those lesions are significantly different. The craniofacial approach is often needed for the resection of a neuroblastoma. We report a case of 14-year old boy in which olfactory neuroblastoma was suspected prior to surgery, but turned out to be a schwannoma histologically. Molecular genetic examination revealed neither NF2 gene mutation nor loss of heterozygosity of chromosome 22q, unlike common schwannomas.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/22. Primary extranodal nasal-type natural killer/T-cell lymphoma of the brain: a case report.Natural killer (NK)/T-cell lymphomas represent a rare type of lymphoma derived from either activated NK cells or, rarely, cytotoxic T cells. These lesions are most commonly extranodal and tend to present as destructive lesions within the midline facial structures. Other than the nasal cavity and paranasal sinuses, several other extranodal sites of involvement have been reported, including the pharynx, gastrointestinal tract, and testis. Although secondary involvement of the central nervous system has been reported, a convincing case of primary brain NK/T-cell lymphoma has not been previously reported. Here, we report a case of primary brain lymphoma of NK/T-cell type with a characteristic phenotype expressing CD3epsilon, CD56, granzyme B, Epstein-Barr virus-encoded small nuclear RNAs, with germline T-cell receptor gene configuration, and showing an unusual intravascular component. The patient underwent extensive imaging studies, revealing only the brain lesion. The lymphoma failed to respond to therapy and the patient eventually died after transfer to a hospice facility. This unusual case highlights an unusual presentation of a rare disease entity and highlights the need for a better understanding of the biology and treatment of T-cell lymphomas.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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