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67 Possible Causes for Cerebrospinal Fluid Abnormality, Optic Disc Pallor, Spastic Dystonia

  • Leber's Hereditary Optic Neuropathy

    Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye.[ncbi.nlm.nih.gov] A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.[ncbi.nlm.nih.gov] Cerebrospinal fluid analysis is typically normal except in those patients with a MS syndrome [Newman et al 1991] [Riordan-Eva et al 1995].[ifond.org]

  • Globoid Cell Leukodystrophy

    Signs included pes cavus, optic disc pallor, progressive spastic tetraparesis, a sensorimotor demyelinating neuropathy and hypodense lesions in the parieto-occipital periventricular[ncbi.nlm.nih.gov] , dystonia, ataxia and peripheral neuropathy.[ncbi.nlm.nih.gov] A lumbar puncture can be done to sample the cerebrospinal fluid. Abnormally high protein levels can indicate the disease.[verywell.com]

  • Multiple Sclerosis

    The evolution of temporal optic disc pallor (arrow) after left optic neuritis.[emedicine.com] Cerebrospinal fluid was tested extensively for infection and malignancy with no abnormal findings. She received five days of intravenous methylprednisolone.[ncbi.nlm.nih.gov] It is part of the upper motor neurone syndrome manifesting as increased tone, clonus, spasms, spastic dystonia and co-contractions.[oadoi.org]

  • Subacute Sclerosing Panencephalitis

    Right fundus showed mild disc pallor with full cup and blurred margins suggestive of papillitis developing secondary optic atrophy [Figure - 1].[ijo.in] The visual problems and myoclonic jerks are typical for stage II, and stage III symptoms include dystonias, choreoathetosis and spasticity.[path.upmc.edu] […] antibodies in the cerebrospinal fluid.[ncbi.nlm.nih.gov]

  • Infantile Choroidocerebral Calcification Syndrome

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Myopia and Optic disc pallor, related diseases and genetic[mendelian.co] Cerebral palsy is a nonprogressive neurologic motor deficit (spasticity, dystonia, ataxia, paresis) from insults occured during prenatal/perinatal periods.[radnotes.co.nz] fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.[mendelian.co]

  • Familial Infantile Bilateral Striatal Necrosis

    disc pallor Athetosis 3-Methylglutaconic aciduria Abnormality of mitochondrial metabolism Epileptic encephalopathy Hypsarrhythmia Aciduria Encephalopathy Abnormality of the[mendelian.co] […] such as the demonstration of a increased level of lactate in the cerebrospinal fluid, and a clinical picture that is consistent with the disease. 12 Figure 1 Axial MRI scan[dovepress.com] Clinical features include choreoathetosis, dystonia, rigidity, spasticity, dysphagia, optic atrophy, intellectual deficit, developmental regression of motor and verbal skills[orpha.net]

  • Spastic Quadriplegic Cerebral Palsy Type 2

    Polyneuropathy Urinary incontinence Bilateral sensorineural hearing impairment Abdominal distention Optic disc pallor Peripheral demyelination Frequent falls Generalized[mendelian.co] Treatment with continuous pump-administered intrathecal baclofen can be considered for spasticity if, despite the use of non-invasive treatments, spasticity or dystonia are[patient.info] Studies of cerebrospinal fluid revealed normal cell counts and levels of protein and glucose but an elevated level of IgG of 0.077 g per liter (normal, 0.01 to 0.03) and an[nejm.org]

  • Demyelinating Disease

    […] nerves: mild diffuse optic disc edema OD, no pallor OU, cup:disc 0.3 OU Macula: Normal, no exudates or folds OU Vessels: Normal course and diameter, no hemorrhages OU Periphery[eyerounds.org] Movement disorders (dystonia, choreoathetosis and parkinsonism) occur in some patients and are probably related to EPM.[ncbi.nlm.nih.gov] The brain and cervical MRI showed demyelinating lesions with abnormal cerebrospinal fluid (CSF) and visual evoked potentials and the patient was successfully treated with[ncbi.nlm.nih.gov]

  • Spastic Ataxia with Congenital Miosis

    disc pallor Sensory axonal neuropathy Flexion contracture Limb muscle weakness Progressive spastic paraplegia Scoliosis Motor axonal neuropathy Violent behavior Inertia Exaggerated[mendelian.co] Cerebrospinal fluid (CSF) abnormalities are restricted to a mild pleocytosis ( Post- or parainfectious, monoepisodic, perivenular demyelination of the nervous system also[healio.com] , Angelman syndrome , Ataxia spastic congenital miosis , Ataxia , Athetosis , Autonomic dysreflexia , Autonomic dystonia , Autosomal recessive spastic paraplegia , Bahemuka[wikidoc.org]

  • Biotinidase Deficiency

    There was mild optic disc pallor bilaterally and optical coherence tomography showed atrophy of the papillomacular bundle ( Figure 2 ).[jamanetwork.com] Lactate, pyruvate and 3-hydroxyisovaleric acid as metabolic disease markers were measured in blood, cerebrospinal fluid and brain tissue by biochemical analyses or localized[ncbi.nlm.nih.gov] Newer treatments for spasticity and dystonia associated with inborn errors of metabolism have been reported, including intrathecal baclofen and neurotoxins.[patient.info]

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