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13 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Neurologic Manifestation

  • 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] manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia.[orpha.net]

  • Usher Syndrome Type 2A

    An eye fundus examination ( Figure 3 ) showed bone spicule deposits, attenuation of vessels, and a waxy pallor of the optic nerve head.[molvis.org] Usher syndrome type I should be suspected in individuals with: Congenital (i.e., prelingual) profound bilateral sensorineural hearing loss No significant vestibular responses[centogene.com] Manifestations Nervous System Diseases Blindness Vision Disorders Abnormalities, Multiple Congenital Abnormalities Signs and Symptoms[clinicaltrials.gov]

  • Alstrom Syndrome

    Neurologic manifestations. Neurologic evaluation with EEG to examine for seizures.[ncbi.nlm.nih.gov] The funduscopy showed pale optic discs, atrophic maculopathy, golden appearance of peripheral and midperipheral fundus, coarser pigmentary changes with a "bone-spicule" configuration[ncbi.nlm.nih.gov] Hearing All subjects showed a bilateral symmetrical moderate to profound sensorineural hearing loss. The onset of hearing loss was either congenital or early childhood.[journal.frontiersin.org]

  • Familial Progressive Vestibulocochlear Dysfunction

    The vessels are very thin, and there is a characteristic pigment called bone spicules. Figure 3.[audiologyonline.com] Sensorineural hearing loss is usually congenital, severe to profound and non-progressive. However, hearing loss may be later onset and progressive in some patients.[asperbio.com] manifestation has been caused by Borrelia ( 75 ).[frontiersin.org]

  • Schneckenbecken Dysplasia

    […] and systemic manifestations.[amp.pharm.mssm.edu] […] overgrew the cartilage, producing spicules.[documents.tips] Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized[amp.pharm.mssm.edu]

  • Cataract - Ataxia - Deafness

    In complicated HSP, on the other hand, the more serious neurologic manifestations include ataxia, deafness, cataracts, epilepsy, dementia, or other signs. 3 Genetic heterogeneity[neurology.org] Bone-spicule-shaped pigment clumping may be present in the midperiphery while the optic disk is often pale and the retinal vessels are attenuated.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com]

  • Usher Syndrome Type 2D

    Manifestations Nervous System Diseases Blindness Vision Disorders Abnormalities, Multiple Congenital Abnormalities Signs and Symptoms[clinicaltrials.gov] Similar to other types of retinitis pigmentosa, fundus features include peripheral retinal atrophy with bone-spicule-like pigmentation, vascular attenuation, and waxy-pallor[webeye.ophth.uiowa.edu] Usher syndrome type I should be suspected in individuals with: Congenital (i.e., prelingual) profound bilateral sensorineural hearing loss No significant vestibular responses[centogene.com]

  • Ocular Albinism with Congenital Sensorineural Deafness

    manifestations peripheral neuropathy cerebellar ataxia mental retardation Rarer findings include: upper limb contractures (type III, Klein-Waardenburg syndrome) Hirschsrpung's[radiopaedia.org] Bone spicule formation. d. Choroidal folds. 2. What is the likely diagnosis? a. Retinitis pigmentosa. b. Congenital rubella retinopathy. c. Syphilis retinopathy. d.[reviewofoptometry.com] profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.[mendelian.co]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    Not all neurological manifestations result from tumours. 44 Indeed, the most frequent neurological manifestation of neurofibromatosis type 1 is a learning problem. 46 Other[jnnp.bmj.com] The retinal picture resembles retinitis pigmentosa with ‘bone spicule’ pigment clumps, vascular attenuation, and pale optic nerve heads.[disorders.eyes.arizona.edu] When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome.[emedicine.medscape.com]

  • Piebald Trait - Neurologic Defects Syndrome

    Griscelli syndrome type 3 ( OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin ( MLPH )[mendelian.co] bilateral sensorineural hearing loss.[orpha.net] […] info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD Low match GRISCELLI SYNDROME, TYPE 1; GS1 Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic[mendelian.co]

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