Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 67-year-old woman began to have difficulty in walking due to spastic paraparesis, sensory impairment in the lower limbs and instability on standing at the age of 59 years. Eight years later, she developed complete spastic paraplegia and urinary incontinence. On examination, she was found to have down-beat nystagmus and ocular hypermetria. Brain CT scan and MRI revealed cerebellar atrophy, predominantly in the vermis. HTLV-I antibody titer was increased in both serum and cerebrospinal fluid (CSF). She was diagnosed as having HAM and placed on prednisolone, salazosulfapyridine and high-dose vitamin C. Her symptoms including gait disturbance, nystagmus and ocular hypermetria improved but did not completely disappear. In parallel with clinical improvement, the antibody titer to HTLV and the ratio of CD4/CD8 lymphocyte subsets in blood decreased. The above observations suggest that the cerebellar signs and cerebellar atrophy share the same etiology with HAM. The presence of nystagmus and prominent cerebellar signs plus the CT and MRI findings strongly suggest that the lesions in HAM are not limited to the spinal cord but extend to the brainstem and cerebellum.
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PMID:[HTLV-I associated myelopathy (HAM) with cerebellar atrophy presenting a down-beat nystagmus]. 766 28

Chediak - Higashi Syndrome (CHS) is a rare, primary Immunodeficiency disorder with an autosomal recessive (AR) inheritance and characterized by recurrent infection, partial occulocutaneous albinism and an accelerated phase.In this report we describe clinical and laboratory findings from 6 CHS patients. Clinical and laboratory information of six patients who were referred to our center during the last 20 years (from 1983 - 2003) were reviewed.Onset age of disease was between 3 months to 10 years. All patients had history of consanguineous parents and two patients were siblings. All patients had oculocutaneous albinism, nystagmus, recurrent infections which included upper and lower respiratory tract (U and LRT) infections, stomatitis, thrush, and skin abscesses and hepatitis. In laboratory findings, all patients had neutropenia and normal immunoglobulins and normal CD3, CD4, CD8 and CD19 lymphocyte by flowcytometry and three of the four patients had chemotatic defect. Five patients certainly had giant granule in bone marrow neutrophil and in one patient it was equiovocal. Three patients had an accelerated phase, and for one patient bone marrow transplantation was done that was tolerated well and had been well after 7 years.We emphasize the need for early diagnosis on basis of characteristic facies and diagnostic laboratory examinations and early bone marrow transplantation (BMT) in patients.
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PMID:Report of six cases of chediak-higashi syndrome with regard to clinical and laboratory findings. 1730 79

We report a unique case of bilateral intraocular calcification due to necrotizing cytomegalovirus (CMV) retinitis associated with congenital CMV infection. A 7-month-old boy with a history of congenital CMV infection showed bilateral intraocular calcific plaques on computed tomography (CT) and ultrasonography. We reviewed the patient's medical files for the purpose of this report. The patient had a prior medical history of hospitalization for fever and swelling in the neck at 3 months of age. Systemic findings (anemia, neutropenia, hepatosplenomegaly, and reactive lymphadenomegaly) in association with a low CD4 count, high blood CMV viral load, and positivity for urine CMV DNA by polymerase chain reaction led to the diagnosis of bone marrow suppression and congenital CMV infection. At 7 months, he developed horizontal nystagmus and bilateral leukocoria over 20 days. Cranial CT and ultrasonography revealed bilateral intraocular calcific plaques and the patient was referred to rule out retinoblastoma. Fundoscopy was consistent with bilateral hemorrhagic, necrotizing CMV retinitis. Significant resolution of the retinal infiltrations occurred 2 weeks after initiation of systemic treatment with ganciclovir. Intraocular calcification may be a sign of active CMV retinitis. To our knowledge this is the first report of bilateral intraocular calcification serving as the presenting clinical manifestation of necrotizing CMV retinitis.
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PMID:Bilateral intraocular calcification in necrotizing cytomegalovirus retinitis. 2455 55