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1,899 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Cerebrospinal Fluid Abnormality

  • Refsum Disease

    Bone spicule retinopathy is a universal and usually early sign in RD.[doi.org] Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia[ncbi.nlm.nih.gov] […] ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type 1K

    The fundoscopic finding of both eyes showed typical pigmentary degeneration with multiple bone spicule pigmentations in over the entire retina, attenuated retinal vessels,[mafiadoc.com] Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net]

    Missing: Cerebrospinal Fluid Abnormality
  • Multiple Myeloma

    This fluid is predominantly blood, but mixed in are bone marrow particles (spicules) which are then spread onto glass slides, stained, and examined by hematologists and pathologists[cancer.ucsf.edu] However, some patients may have cerebrospinal fluid (CSF) abnormalities; specifically, increased protein and decreased soluble β-amyloid or ApoE.[emedicine.medscape.com] After local, and sometimes mild systemic anesthesia, a needle is inserted into the bone and fluid is removed (aspirated).[cancer.ucsf.edu]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Kearns-Sayre Syndrome

    Weingeist says this retinopathy is not as dramatic as the bone spicules seen in retinitis pigmentosa. Figure 4 : Muscle Pathology.[webeye.ophth.uiowa.edu] […] high protein content in the cerebrospinal fluid (more than 100mg/dL), and markedly reduced activity of enzymes involved in the respiratory chain complex, such as citrate[symptoma.com] spicules). a Right eye, b left eye Fig. 3 Optical Coherence Tomography-Angiography (OCT-A) of both eyes. a Panoramic color picture of the posterior pole, and the thickness[journalretinavitreous.biomedcentral.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Cerebral Thrombosis

    Examination of the cerebrospinal fluid (CSF) does not necessarily help in establishing the diagnosis as there are no pathognomonic features.[pmj.bmj.com] Lumbar Puncture Unless there is clinical suspicion of meningitis, examination of the cerebrospinal fluid (CSF) is typically not helpful in cases with focal neurological abnormalities[ahajournals.org] Abnormalities are found in up to 84% of cases and include raised CSF pressure, increased protein content, the presence of red blood cells and pleocytosis. 5 Nevertheless,[pmj.bmj.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss Bone Spicules
  • Retinitis pigmentosa 40

    Symptoms - Retinitis pigmentosa Mottling of the retinal pigment epithelium with black bone-spicule pigmentation is typically indicative (or pathognomonic) of retinitis pigmentosa[checkorphan.org] Diagnostic methods Clinical diagnosis is based on findings of bilateral sensorineural hearing loss (symmetric, congenital and profound for type 1, and moderate to severe with[orpha.net] Retinal hyperpigmentation in bone spicules at mid-periphery. Pigment clumping in macular area. Extensive atrophy of retinal pigment epithelium.[journalretinavitreous.biomedcentral.com]

    Missing: Cerebrospinal Fluid Abnormality
  • Chronic Fatigue Syndrome

    […] immune signatures in plasma and cerebrospinal fluid [ 16 , 17 ].[microbiomejournal.biomedcentral.com] […] immune signatures in plasma and cerebrospinal fluid [ 16, 17 ].[dx.doi.org] Abnormal immune activation can be caused by translocation of microbes from an inflamed gut [ 18 ].[microbiomejournal.biomedcentral.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss Bone Spicules
  • Stroke

    BACKGROUND: Impaired gait function after stroke contributes strongly to overall patient disability. Recently, sleep disturbance was reported to negatively affect functional recovery after stroke. OBJECTIVE: The aim of this study was to identify the impact of sleep disturbance on balance and gait function in stroke[…][ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss Bone Spicules
  • Suppurative Labyrinthitis

    In turn, at the labyrinthitis ossificans stage, where debris and boney spicules are formed, the temporal bone CT scan ( Fig. 5 ) is the best test to identify lesion extent[bjorl.org] Patients with recurrent meningitis and congenital malformations of the inner ear may undergo vestibule obliteration. 14 All patients acquiring bilateral severe-to-profound[entokey.com] The infection originates either in the middle ear or in the cerebrospinal fluid, as a result of bacterial meningitis.[vestibular.org]

  • Primary Progressive Multiple Sclerosis

    We report a 49-year-old woman with a history of progressive gait disturbance, white matter disease, and cerebrospinal fluid immunoglobulin abnormalities who met criteria for[ncbi.nlm.nih.gov] We present three patients with a clinical course and cerebrospinal fluid findings consistent with a diagnosis of primary progressive multiple sclerosis (PPMS).[ncbi.nlm.nih.gov] A history of exacerbation and remission of symptoms and the presence of greater than normal amounts of protein in cerebrospinal fluid are characteristic.[medical-dictionary.thefreedictionary.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss Bone Spicules

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