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2,948 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Cerebrospinal Fluid Protein Increased, Retinitis Pigmentosa

  • Refsum Disease

    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] Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations[ncbi.nlm.nih.gov] The cerebrospinal fluid contains increased protein but no increase in cells.[disorders.eyes.arizona.edu]

  • Kearns-Sayre Syndrome

    Pigmentary degeneration of the retina (retinitis pigmentosa) may appear as an isolated finding unassociated with other systemic abnormalities.[doi.org] fluid (CSF) protein and reduced folic-acid levels that are characteristic of KSS.[ncbi.nlm.nih.gov] cerebrospinal fluid protein Progressive external ophthalmoplegia Diagnosis There are two tests that may be performed should a diagnosis of Kearns-Sayre syndrome be suspected[disabled-world.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Syphilis

    Syphilis is a sexually transmitted disease that can affect multiple organ systems, with central nervous system involvement at any stage. We present a 53-year-old woman with an unusual truncal rash with painful anogenital lesions, accompanied by patchy alopecia, oral lesions, photophobia and hoarseness. She was found[…][ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Congenital Deafness

    hearing loss ranges from mild to profound hearing loss.[wvdhhr.org] LXXIX The Association of Nerve Deafness and Retinitis Pigmentosa Interval Report . Annals of Otology, Rhinology & Laryngology, Vol. 69, Issue. 4, p. 1044.[journals.cambridge.org] […] levels in the cerebrospinal fluid without an increase in the number of cells. 50 It is caused by defective phytanic acid metabolism, and as such, the diagnosis is established[nature.com]

  • Alpers Syndrome

    Cortical blindness (25% patients) and retinitis pigmentosa are present in Alpers syndrome. Hearing impairment is also present in some children.[symptoma.com] An increased protein level is seen in cerebrospinal fluid analysis.[ninds.nih.gov] pigmentosa (NARP) Pearson syndrome Wolfram syndrome Patients seen in our Mitochondrial Disease Clinic also have the opportunity to participate in the Mitochondrial Disease[mayoclinic.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Toxoplasmosis

    Unilateral pigmentary retinopathy mimicking retinitis pigmentosa [37] Recurrence Recurrent lesions tend to occur at the margins of old scars, but they also can occur elsewhere[eyewiki.aao.org] A subclinical infection was characterized by changes in the protein levels and cell counts in cerebrospinal fluid and substantiated if T. gondii specific antibody levels remained[dx.doi.org] […] vasculitis [1,57] Unilateral neuroretinitis [30] (optic disk edema, macular star) Inflammation in absence of overt necrotizing retinitis [32].[eyewiki.aao.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Peripheral Neuropathy

    Occasionally the neuropathy is a symptom of another disorder Further Reading All Neuropathy Content Neuropathy, Ataxia and Retinitis Pigmentosa (NARP Syndrome)[news-medical.net] pigmentosa D Tangier disease AR Very rare, variable onset, splenomegaly, orange tonsils A Fabry’s disease XR Childhood onset, SFN A AD, autosomal dominant; AR, autosomal[clevelandclinicmeded.com] Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.[nature.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Infantile Refsum Disease

    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] Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging[ncbi.nlm.nih.gov] […] levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.[thedoctorsdoctor.com]

  • Diabetes Mellitus

    The authors report a 9-year follow-up of macular complications in a 66-year-old woman affected with retinitis pigmentosa (RP) and type 2 diabetes mellitus.[ncbi.nlm.nih.gov] pigmentosa, external ophthalmoplegia, or cataracts.[emedicine.medscape.com] Rarely, clinical signs of diabetic retinopathy are presented in a patient with retinal dystrophy.[ncbi.nlm.nih.gov]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Usher Syndrome Type 1H

    Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa.[ncbi.nlm.nih.gov] Progressive vision loss caused by retinitis pigmentosa becomes apparent in childhood.[ncbi.nlm.nih.gov] OMIM : 58 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa[malacards.org]

    Missing: Cerebrospinal Fluid Protein Increased

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