Presentation
Most nonsymptomatic heterozygous carriers present with increased AFP serum levels. [ncbi.nlm.nih.gov]
Gastrointestinal
- Nausea
The administration of a combined immunosuppressive treatment resolved ocular inflammation, dizziness, nausea, and vertigo but gave little results in controlling progressive hearing loss. [ojrd.biomedcentral.com]
At the age of 7 years, after an acute otitis media with mastoiditis, the girl complained about dizziness without nausea, but with clear ataxia and an oculomotor disorder (having difficulties in looking active at objects). [thieme-connect.com]
Otorhinolaryngology, b Service of Internal Medicine I, c Service of Ophthalmology, d Service of Pathology Abstract Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of Ménière-like attacks (nausea [pmj.bmj.com]
The most common symptoms include red, painful, light-sensitive or blurred vision ; hearing loss (which may become profound and permanent); vertigo (dizziness); poor balance; nausea and vomiting; fever, fatigue and weight loss. [vasculitis.org.uk]
- Vomiting
[…] b Service of Internal Medicine I, c Service of Ophthalmology, d Service of Pathology Abstract Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of Ménière-like attacks (nausea, vomiting [pmj.bmj.com]
The most common symptoms include red, painful, light-sensitive or blurred vision ; hearing loss (which may become profound and permanent); vertigo (dizziness); poor balance; nausea and vomiting; fever, fatigue and weight loss. [vasculitis.org.uk]
She denied any hearing loss, diplopia, fever, cough, rhinorrhea, otorrhea, tinnitus, and vomiting. [webeye.ophth.uiowa.edu]
Signs of inner ear dysfunction include nausea, vomiting, tinnitus, vertigo, and bilateral hearing loss. Deafness generally progresses rapidly during a 1- to 3-month period. [pubs.sciepub.com]
Musculoskeletal
- Osteoporosis
Most recently, glucocorticoids have been found to be useful also in the treatment of neurometabolic and neurogenetic diseases, but their overuse is associated with long-term side effects, including osteoporosis, diabetes, obesity, cataracts, hypertension [raredisorders.imedpub.com]
Ears
- Tinnitus
The audiovestibular symptoms, tinnitus, sensorineural hearing loss and acute episodes of vertigo, are usually bilateral. Cogan's syndrome is a disorder of young adults, the average age of onset being 25 years. [pmj.bmj.com]
She denied any hearing loss, diplopia, fever, cough, rhinorrhea, otorrhea, tinnitus, and vomiting. [webeye.ophth.uiowa.edu]
Case Presentation a 25-year-old Italian woman was referred with conjunctival hyperaemia, interstitial keratitis, moderate bilateral sensorineural hearing loss accompanied by tinnitus, dizziness, nausea and vertigo, poorly responsive to oral and topical [ojrd.biomedcentral.com]
The patient complained redness in the left eye with diplopia, photophobia and developed acute onset of right severe sensorineural hearing loss with tinnitus. [pubs.sciepub.com]
- Hearing Impairment
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23. Eur J Hum Genet. 2000; 8: 986-990 Moreira M.C. Klur S. Watanabe M. Nemeth A.H. [jns-journal.com]
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000;8 (12) 986- 990 PubMed Google Scholar Crossref 7. [jamanetwork.com]
Bomont P, Watanabe M, Gersoni-Barush R, et al. : Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 2000, 8 :986–990. [link.springer.com]
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23. Eur J Hum Genet 2000 ; 8 : 986 –90. Cogan DG. [academic.oup.com]
Eyes
- Photophobia
Ocular Examination: Moderate photophobia noted during the exam. [webeye.ophth.uiowa.edu]
The patient complained redness in the left eye with diplopia, photophobia and developed acute onset of right severe sensorineural hearing loss with tinnitus. [pubs.sciepub.com]
Audiovestibular dysfunction in association with nonsyphilitic interstitial keratitis (IK) was classified as a clinical entity by Cogan in 1945. 1 Sudden onset IK is accompanied by photophobia, lacrimation and eye pain, and usually responds to local atropine [pmj.bmj.com]
Interstitial keratitis is rarely asymptomatic, and most of the patients present with eye redness, photophobia or eye pain [ 2, 3 ]. [rheumatology.oxfordjournals.org]
- Blurred Vision
The most common symptoms include red, painful, light-sensitive or blurred vision ; hearing loss (which may become profound and permanent); vertigo (dizziness); poor balance; nausea and vomiting; fever, fatigue and weight loss. [vasculitis.org.uk]
Symptoms The most common symptoms of Cogan's syndrome include: Red, painful, light-sensitive eyes or blurred vision Hearing loss, which may become profound and permanent Vertigo (a sensation of the room spinning; may be called dizziness) Poor balance [drugs.com]
Symptoms include pain, tearing, photophobia, gradual blurring of vision. [webeye.ophth.uiowa.edu]
- Anterior Uveitis
Anterior ocular inflammation, such as IK, anterior uveitis, scleritis, and episcleritis, usually responds to topical corticosteroids [ 11 ]. [hindawi.com]
Neurologic
- Ataxia
Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD). [ncbi.nlm.nih.gov]
[…] deficiency Spinocerebellar ataxia type 2 (SCA2) Spinocerebellar ataxia with axonal neuropathy (SCAN1) Ataxia-telangiectasia. [centogene.com]
- Nystagmus
The PPRF can be excluded as the site of the lesion, since vestibular stimuli elicit fast phases of nystagmus in such patients. Gaze-Evoked Nystagmus Definition Gaze-evoked nystagmus is the result of a gaze-holding deficit. [clicktocurecancer.info]
The reading scan was disturbed by saccadic intrusions and/or nystagmus. However, an ad hoc reading task demonstrated that deficits appeared only when the items that were displayed enhanced oculomotor requests. [ncbi.nlm.nih.gov]
Congenital oculomotor apraxia type Cogan II is characterized by impairment of horizontal voluntary eye movements and optokinetic nystagmus. Patients cannot perform horizontal eye movements for ocular fixation of an object. [neocyst.de]
- Vertigo
Vertigo can also be severe. Vasculitis signs and symptoms can be present at presentation or may develop later in the course of the syndrome. [vasculitisfoundation.org]
42-year-old Female with Interstitial Keratitis and Vertigo May 24, 2007, updated Nov 20, 2007 Chief Complaint: Red left eye for the past two months with recent onset of vertigo and otalgia. [webeye.ophth.uiowa.edu]
The administration of a combined immunosuppressive treatment resolved ocular inflammation, dizziness, nausea, and vertigo but gave little results in controlling progressive hearing loss. [ojrd.biomedcentral.com]
The audiovestibular symptoms, tinnitus, sensorineural hearing loss and acute episodes of vertigo, are usually bilateral. Cogan's syndrome is a disorder of young adults, the average age of onset being 25 years. [pmj.bmj.com]
- Dysmetria
Subsequently, he suffered from arms dysmetria, truncal ataxia and cerebellar dysarthric speech. He was wheelchair bound by the age of 23-years. [cags.org.ae]
Testing for dysmetria is best done with the method illustrated in ■ Fig. 11.3. Hypometric saccades are not necessarily pathological; they can be the product of inattention or poor cooperation. [clicktocurecancer.info]
Gait imbalance is usually the first symptom followed by upper limb dysmetria. Other variable signs include dysarthria, choreiform or athetoid movements, facial grimacing, tongue and limb fasciculations, areflexia, and distal sensory deficits. [disorders.eyes.arizona.edu]
[…] slowly progressive cerebellar ataxia, which usually presents with gait ataxia (3) oculomotor apraxia that progresses to an external ophthalmoplegia (4) axonal motor polyneuropathy with muscle atrophy in the hands and feet (5) dysarthria (6) upper limb dysmetria [meducator3.net]
The first manifestation is progressive gait imbalance (age of onset: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. [lacaf.org]
- Dizziness
Cogan's syndrome can lead to vision difficulty, hearing loss and dizziness. [drugs.com]
The administration of a combined immunosuppressive treatment resolved ocular inflammation, dizziness, nausea, and vertigo but gave little results in controlling progressive hearing loss. [ojrd.biomedcentral.com]
At the age of 7 years, after an acute otitis media with mastoiditis, the girl complained about dizziness without nausea, but with clear ataxia and an oculomotor disorder (having difficulties in looking active at objects). [thieme-connect.com]
Does your daughter have abnormal eye movements and dizziness too. How old is she? Im a young adult Hi Regina, my daughter is 27 years old. she was diagnosed about ten years ago. [healthunlocked.com]
Workup
We report a case of an atypical Cogan’s syndrome, the workup of the diagnosis, and treatment results. 2. [hindawi.com]
Only when drug effects have been ruled out should the workup proceed in a search for disease in the cerebellum and/or brainstem. Endpoint nystagmus refers to a minor gaze-holding deficit that should not be regarded as clinically important. [clicktocurecancer.info]
Discussion During diagnostic workup of autosomal recessive ataxias with oculomotor apraxia and/or sensorimotor neuropathy, the assessment of serum AFP might be useful because, if elevated, it narrows down the differential diagnosis list to AOA2 and ataxia [onlinelibrary.wiley.com]
We report a case of a atypical Cogan’s syndrome, the workup of the diagnosis, and treatment results. 2. [pubs.sciepub.com]
Figure 3 shows the workup leading to AOA1, AOA2 and AT diagnosis in view of the results of our study and previous reports 18. Figure 3 Workup leading to AOA1, AOA2 and AT diagnosis in view of the results of our study and previous reports. [nature.com]
Serum
- Thrombocytosis
Weight loss, cardiovascular and abdominal manifestations, increased ESR, anaemia, leucocytosis and thrombocytosis appeared to be significantly associated with unfavourable prognosis. [rheumatology.oxfordjournals.org]
Treatment
Treatments Treatment of manifestations: may include physical therapy, particularly for disabilities resulting from peripheral neuropathy; a wheelchair for mobility, usually by age 15-20 years; educational support for difficulties with speaking, reading [lacaf.org]
Attendance at a regular school is most often possible. treatment No causal treatment available. Symptomatic therapy of ataxia with physiotherapy and treatment of chronic renal failure. sources Betz R, Rensing C, Otto E, et al. [neocyst.de]
Management and treatment No specific treatment exists for AOA1 and management is mainly supportive. [orpha.net]
Prognosis
The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. [ncbi.nlm.nih.gov]
Immunological tests can help to establish the diagnosis and the prognosis for the recovery of hearing. [pmj.bmj.com]
Etiology
These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]
The diagnostic exams are mostly important to exclude other etiologies. [hindawi.com]
Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies [books.google.ro]
In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.com]
These data confirm that MCSZ and some forms of ataxia share etiological features, most likely reflecting the role of PNKP in DNA-repair mechanisms. [discovery.ucl.ac.uk]
Epidemiology
Summary Epidemiology Ataxia-oculomotor apraxia type 1 (AOA1) represents 3.6% of all autosomal recessive cerebellar ataxia (ARCA) in Portugal; in Japan, AOA1 seems to be the most frequent cause of ARCA. [orpha.net]
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. [disorders.eyes.arizona.edu]
Diagnosis: Cogan's Syndrome EPIDEMIOLOGY Predominantly young to middle aged adults Rare SIGNS Interstitial keratitis (limbal stromal opacity or edema, non-inflammed vascular loops in the mid-stroma) Other inflammation of the eye ( episcleritis, scleritis [webeye.ophth.uiowa.edu]
An epidemiological study was conducted on 72 Italian AT families from the Italian Registry for Ataxia Telangiectasia applying the Dahlberg’s formula. [raredisorders.imedpub.com]
Pathophysiology
Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders. [books.google.ro]
On the other hand, the application of a study protocol including MRI and a series of immunological tests might facilitate the establishment of the prognosis for the auditory injury, opening new lines of research focusing on the pathophysiological mechanisms [pmj.bmj.com]
Genome-wide expression and weighted gene co-expression network analysis in these neural progenitors identified both previously reported and novel affected genes and cellular pathways associated with senataxin dysfunction and the pathophysiology of AOA2 [nbscience.com]
Prevention
Prevention of secondary complications: high-protein diet to prevent edema by restoring serum albumin concentration; low-cholesterol diet. Surveillance: routine follow-up with a neurologist. [lacaf.org]
Author information 1 Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. 2 Center for Predictive and Preventive Genetics, Institute for Molecular and Cell Biology, University of Porto [ncbi.nlm.nih.gov]
Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. [books.google.es]
Prevention There is no way to prevent Cogan's syndrome. Treatment Mild eye disease may be treated with anti-inflammatory medications, including steroids and NSAIDs that are applied to the eye. [drugs.com]
Prevention - Apraxia- oculomotor- Cogan type Not supplied. Diagnosis - Apraxia- oculomotor- Cogan type Not supplied. Prognosis - Apraxia- oculomotor- Cogan type Not supplied. [checkorphan.org]