Cases reported "Brain Diseases"

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1/172. Encephalopathy associated with haemophagocytic lymphohistiocytosis following rotavirus infection.

    A 2-year-old Japanese boy with a haemophagocytic lymphohistiocytosis (HLH) associated encephalopathy which developed after rotavirus infection is described. The neurological symptoms consisted of coma, seizures and spastic quadriplegia. On therapy with steroids, etoposide and cyclosporin A, the patient recovered without any neurological deficits. The interferon-gamma levels in serum and CSF were elevated at onset of the disease but had returned to normal at the time of clinical remission. Brain MRI revealed diffuse white matter abnormalities and parenchymal volume loss. Proton magnetic resonance spectroscopy revealed elevated lactate in the abnormal lesions observed on MRI, indicating that macrophages not exhibiting aerobic metabolism had infiltrated the CNS. At the time of clinical remission, the white matter abnormalities and brain lactate had disappeared. These findings suggested that the neurological symptoms resulted from the overproduction of cytokines by activated T-cells and macrophages. The pathophysiology of a HLH associated encephalopathy was considered to be a local immune response within the CNS, because interferon-gamma can induce the expression of major histocompatibility complex class I and II antigens on glial cells in the CNS. CONCLUSION: Haemophagocytic lymphohistiocytosis associated encephalopathy should be considered early in the differential diagnosis of cases with acute onset neuropathy.
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2/172. Cerebral heterotopia of the temporofacial region. Case report.

    The authors report a case of cerebral heterotopia in the right temporofacial region of a neonate. The lesion presented as a massive cystic swelling containing cerebrospinal fluid. It produced calvarial and facial bone deformities. After the mass was excised, histological examination revealed glial tissue and choroid plexus.
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keywords = bone
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3/172. posterior leukoencephalopathy syndrome may not be reversible.

    The association of an acute reversible encephalopathy with transient occipital lobe abnormalities on imaging studies is well known. This condition has been called reversible posterior leukoencephalopathy syndrome. The clinical presentation usually includes seizures, headache, altered mental status, and blindness, often associated with hypertension and immunosuppressants. The authors discuss a two-year-old male with down syndrome who presented 2 months after allogeneic bone marrow transplantation with severe oculogyric crisis, without other complaints. The patient was being treated for hypertension and was receiving cyclosporine for prophylaxis of graft-vs-host disease. A computed tomography scan of the head revealed marked bilateral lucencies mainly involving the white matter of the occipital lobes, with a few foci of punctate hemorrhage. The condition improved when cyclosporine was discontinued, but an area of leukomalacia was identified on follow-up magnetic resonance imaging. To the authors' knowledge, oculogyric crisis as a presentation of reversible posterior leukoencephalopathy has not been previously described. Recognizing this association is important, because patients receiving cyclosporine are often receiving other medications that can potentially cause dystonic eye movements, possibly leading to a delay in diagnosis and treatment, which can result in an irreversible neurologic deficit.
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keywords = bone
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4/172. Fatal chaetomium cerebritis in a bone marrow transplant patient.

    The number of opportunistic infections in the central nervous system (CNS) has been steadily increasing because of a rising number of immunocompromised patients. A rare form of CNS infection can be caused by chaetomium species, one of the largest genera of saprophytic ascomycetes. The CNS lesions in the present case were caused by chaetomium atrobrunneum. The main characteristic of almost all chaetomium species is presence of hairs or setae covering the ascomata. Microbiological studies are the only definitive way to correctly identify this fungal organism. The rapid evolvement of the cerebral infection suggests that the brain tissue provides a favorable environment for growth and proliferation of these fungi. This is the second documented case of a fatal brain abscess caused by chaetomium atrobrunneum, and the first case report in a bone marrow transplant patient.
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ranking = 0.010218876221458
keywords = bone
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5/172. blindness from bad bones.

    Progressive visual loss is the most common neurologic finding in osteopetrosis. Several mechanisms may explain this phenomenon, including compression of the optic nerves caused by bony overgrowth of the optic canals and retinal degeneration. We report a child with osteopetrosis and progressive visual loss, even though patent optic canals were demonstrated by computed tomography and digital holography. This patient's visual loss was caused by increased intracranial pressure secondary, to obstruction of cerebral venous outflow at the jugular foramen. This case points to the importance of a full evaluation of the skull base foramina in the diagnostic workup of visual loss in patients with osteopetrosis.
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keywords = bone
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6/172. Determination of extent and activity with radionuclide imaging in erdheim-chester disease.

    erdheim-chester disease usually involves the diaphyseal and metaphyseal regions of tubular bones and various visceral organs. A 56-year-old woman presented with the histologically confirmed diagnosis of erdheim-chester disease. A Tc-99m MDP bone scan revealed the entire extent of the skeletal disease and showed unusual involvement of the epiphyses and axial skeleton. In addition to MRI, a Ga-67 citrate scan including SPECT showed extensive soft-tissue infiltration of different organs. Both Tc-99m MDP and Ga-67 scintigraphy are useful tools in determining the distribution of this rare disease.
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ranking = 0.0040875504885831
keywords = bone
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7/172. ganciclovir-induced encephalopathy in a bone marrow transplant recipient.

    ganciclovir is widely used as prophylactic and pre-emptive therapy, as well as treatment, for CMV infection following BMT. We report a case treated with ganciclovir 5 days a week. Following escalation of the ganciclovir dose to a twice daily dose to treat CMV antigenaemia, he developed encephalopathy. His encephalopathy resolved with withdrawal of ganciclovir. ganciclovir encephalopathy has been described in other groups of patients but has not been reported following BMT to date. With its widespread use this complication is likely to be seen more often.
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ranking = 0.0081751009771662
keywords = bone
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8/172. osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

    We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.
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keywords = bone
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9/172. Unwanted corticosteroid effects in childhood bone marrow failure, renal failure and brain damage: case report.

    The case report of the corticosteroid complication in an eight-year-old girl with immune thrombocytopenic purpura is presented. She was treated with high dosage corticosteroids and incurred severe side effects, including bone marrow depression, renal magnesium stones, osteoporosis, depression of affect, convulsions with cerebral damage and adrenal suppression.
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ranking = 0.010218876221458
keywords = bone
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10/172. Calcifying pseudotumor of the neural axis--case report.

    A 22-year-old female presented with a calcifying pseudotumor of the neural axis manifesting as generalized convulsive seizure twice within 1 year. Computed tomography revealed a small, calcified mass lesion located in the right parietal lobe adjacent to the skull. The tumor was composed of an extensively calcified mass with accompanying peripheral epithelioid cells and focal mature bone structure, consistent with the diagnosis of a calcifying pseudotumor of the neural axis. Following complete excision of the tumor, the patient has been free from seizures for 8 years.
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keywords = bone
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