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10 Possible Causes for Bilateral Congenital Profound Sensorineural Hearing Loss, Bone Spicules, Cerebrospinal Fluid Protein Increased, Cell Count Normal

  • 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] cell count.[ommbid.mhmedical.com] The cerebrospinal fluid contains increased protein but no increase in cells.[disorders.eyes.arizona.edu] Bone spicule retinopathy is a universal and usually early sign in RD.[doi.org]

  • Multiple Myeloma

    The proteins produced by the myeloma cells can cause similar problems. Low red blood cell count (anemia).[mayoclinic.org] However, some patients may have cerebrospinal fluid (CSF) abnormalities; specifically, increased protein and decreased soluble β-amyloid or ApoE.[emedicine.medscape.com] 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] Multiple myeloma features Low blood counts In multiple myeloma, the overgrowth of plasma cells in the bone marrow can crowd out normal blood-forming cells, leading to low[cancer.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Syphilis

    In patients with CSF pleocytosis, reexamine the CSF every 6 months until cell counts are normal.[health.am] ., spiculated or thickened) does not allow the treponematoses to be distinguished.[cid.oxfordjournals.org] Patients with neurosyphilis require CSF testing at 6-mo intervals until the CSF cell count is normal.[msdmanuals.com] If the cell count has not decreased after 6 months, or if the CSF cell count or protein is not normal after 2 years, retreatment should be considered.[web.archive.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • POEMS Syndrome

    In bone marrow aspirate plasma cells were counted as being 2%, with normal morphology.[ncbi.nlm.nih.gov] cerebrospinal fluid protein, increased cerebrospinal fluid opening pressures, and a normal cell count. 8 22 Thirty-one patients (31%) had sural nerve biopsy; in most cases[bloodjournal.hematologylibrary.org] Resnick has described a pattern of bony proliferation that is pathognomonic for POEMS syndrome: irregular and spiculated bone contours at areas of tendinous and ligamentous[roentgenrayreader.blogspot.com] Tumor necrosis factor (TNF) and IL-2 levels were within normal range. Hemoglobin was slightly decreased, with normal platelet and white blood cell counts.[haematologica.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Meningeal Plague

    The white blood cell (WBC) count is generally raised (to 10,000–20,000/μL) in plague, with neutrophilic leukocytosis and a left shift (numerous immature neutrophils); in some[basicmedicalkey.com] Sclerosis of the bone does not necessarily represent bone invasion, however, sclerosis of the outer table of the skull as well as spiculation of the bone suggest penetration[thamburaj.com] […] cases, however, the WBC count is normal or leukopenia develops.[basicmedicalkey.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • CINCA Syndrome

    Haematological examination revealed a red blood cell count of 5.53 10 6 /μl and a platelet count of 415 10 3 /μl, with the white blood cell count (7,900/μl) and C-reactive[medicaljournals.se] She was diagnosed as having CINCA/NOMID on clinical and radiological grounds; however, analysis of cerebrospinal fluid (CSF) showed neither pleocytosis nor increased protein[ped-rheum.biomedcentral.com] The borders of the ossified portions of the epiphyses are spiculated and uneven. Eventually, long bones develop bowing of the ends and shortening of the diaphysis.[emedicine.medscape.com] The blood count (white and red blood cells and platelets) may decrease occasionally, but recovers with dose reduction. Children taking colchicine grow normally.[my.clevelandclinic.org]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss
  • Congenital Cytomegalovirus Infection

    One child with profound sensorineural hearing loss had severe bilateral temporal bone dysplasia with a small cochlea lacking an interscalar septum, an abnormal vestibule,[ncbi.nlm.nih.gov] Complete blood counts showed a platelet count of 190 10 9 /liter (normal range, 150 10 9 to 400 10 9 /liter) with normal hemoglobin and white cell counts.[doi.org] fluid findings in infected infants generally reveal increased protein and white cells.[academic.oup.com] CMV was isolated by viral culture from bronchoalveolar lavage fluid, but cell counts were normal, cytology showed no viral inclusions and no endoscopic abnormalities were[nature.com]

    Missing: Bone Spicules
  • Spondyloenchondrodysplasia

    Examination of cerebrospinal fluid (CSF) revealed normal values for cell counts, protein, glucose, lactate and neurotransmitters.[ped-rheum.biomedcentral.com] There was an increased concentration of protein in cerebrospinal fluid, an unusual finding in inborn errors of metabolism.[hmdb.ca] Aneurismal Bone Cyst A classic sunburst pattern of bony spicules that extend in a radiating fashion: Osteogenic Sarcoma Primary malignant tumors arising from the bone marrow[studystack.com] […] of bone marrow by gritty fibrous tissue containing bony spicules, causing pain, disability, and gradually increasing deformity; it may affect a single bone (monostotic fibrous[medical-dictionary.thefreedictionary.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] cell count.[ommbid.mhmedical.com] […] levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.[thedoctorsdoctor.com] Usher syndrome type II is characterized by: congenital, bilateral, sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the[ncbi.nlm.nih.gov]

    Missing: Bone Spicules
  • Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

    CSF: normal pressure, little or modest increase in cell count ( Cases with high cell counts, including some polymorphonuclear cells and high protein values, occur and seemingly[sites.google.com] Hematopoiesis is normal, but the bone spicules are thickened with irregular cement lines forming a mosaic appearance with both increased osteoblastic and osteoclastic activity[flashcardmachine.com] An increased protein level is seen in cerebrospinal fluid analysis.[sites.google.com] A VDRL is positive on cerebrospinal fluid obtained by lumbar puncture. The CSF protein and glucose are normal, and there is 1 mononuclear cell present.[flashcardmachine.com]

    Missing: Bilateral Congenital Profound Sensorineural Hearing Loss

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