Presentation
The present paper describes a case of WS associated with bilateral conductive hearing loss which was not related to secretory otitis media. Hyperacusis was, moreover, present in spite of the conductive deafness. [link.springer.com]
A number of pathologies can present with this finding, including labyrinthitis, ischemia, and intralabyrinthine schwannomas. Vertigo is typically a prominent presenting symptom along with SNHL. [appliedradiology.com]
It is difficult to diagnose because the disease presents like other chronic suppurative otitis media. [emedicine.medscape.com]
Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]
Otitis media without infection presents a special problem because symptoms of pain and fever are usually not present. Therefore, weeks and even months can go by before parents suspect a problem. [asha.org]
Entire Body System
- Swelling
If the canal becomes clogged by the swelling and drainage, hearing will be impaired. [britannica.com]
Histamine is the chemical that makes the nasal membranes swell, increases mucous secretion in the nose, and causes neural reflexes (sneezing). [ccent.com]
Signs: Bouchard's Nodes: Swelling of the PIP joints, which is less common than swelling of the DIP joints. Heberden's Nodes: Bony overgrowths on the dorsum of the DIP joints, typical of osteoarthritis. [kumc.edu]
Tube Dysfunction Eye Infections Facial Fracture Food Allergy Foreign Body in Nose Fracture Gastresophageal Reflux-Related Chronic Cough Gastroesophageal Reflux Disease (GERD) Gastrointestinal Diseases Halitosis Head and Neck Cancer Head or Neck Lump or Swelling [trading24.pro]
[…] sudden death Types of Ear symptoms: Earache (15), Ear infection (10), Hearing symptoms (49), Hearing impairment (47), Sensitive hearing (8), Ear sounds (16), Ear shapes (6), Ear discharge (4), Ear itching (1), Ear redness (0), Earlobe symptoms (3), Ear swelling [cureresearch.com]
- Anemia
884 Tetrasomy 12p 4.0 BP * 9 Tetrasomy X 50 Cases 1780 Thakker-Donnai syndrome 2 Cases 3312 Thalidomide embryopathy 0.77 P 2655 Thanatophoric dysplasia 3.5 BP * 199348 Thiamine-responsive encephalopathy 2 Cases 49827 Thiamine-responsive megaloblastic anemia [azkurs.org]
Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia Sialuria, French type Hartnup disease Toriello-Carey syndrome Thompson Baraitser syndrome Periodic fever, aphthous stomatitis, pharyngitis and adenitis Sickle cell anemia [checkrare.com]
At the other end of the extreme, hemorrhaging, anemia, or extensive liver or central nervous system damage may occur. [tsbvi.edu]
Chronic illness of many types, anemia, psychological causes. SYNCOPE : Fainting, transient loss of consciousness. [kumc.edu]
- Weakness
You should seek emergency medical treatment if you experience headaches, numbness, or weakness along with any of the following: chills quick breathing neck stiffness vomiting sensitivity to light mental agitation These symptoms may occur with life-threatening [healthline.com]
PARALYSIS or WEAKNESS: Paresis is intermittent weakness. CAUSES of Paresis: Myasthenia Gravis (fatigable weakness) Hypokalemia can result in periodic paralysis. [kumc.edu]
[…] phosphorylase kinase deficiency Eisenmenger syndrome Seckel like syndrome Majoor-Krakauer type Medulloblastoma Birt-Hogg-Dube syndrome Epidermolysa bullosa simplex with muscular dystrophy Familial hemiplegic migraine type 1 Distal myopathy with vocal cord weakness [checkrare.com]
- Unconsciousness
This is because the low-pitched roar of motors causes persons with normal hearing to unconsciously raise their voices, while the individual with stirrup fixation fails to hear the low-pitched roar and thus hears better and enjoys the raised voices around [britannica.com]
- Pallor
[…] hearing with background noise, Inability to hear high-pitched sounds, Hearing loss, Difficulty hearing some speech R Rabies ... sound sensitivity Raynaud's phenomenon ... earlobe symptoms, earlobe numbness, earlobe sensitivity, earlobe pain, earlobe pallor [cureresearch.com]
Respiratoric
- Saddle Nose
Marshall Syndrome Individuals with Marshall Syndrome have a distinct flat sunken midface with a flattened nasal bridge or "saddle nose". [tsbvi.edu]
Eyes
- Lacrimation
Symptoms are intense unilateral orbital pain (over one eye), with lacrimation, rhinorrhea, flushing. Usually lasts about 1 hour. CAUSES of SECONDARY HEADACHE: Meningismus: Stiff neck. [kumc.edu]
Brachydactyly Mononen type Kniest like dysplasia lethal Pierson syndrome Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Vascular hyalinosis Lujan syndrome Hydrocephalus obesity hypogonadism Tetraamelia with ectodermal dysplasia and lacrimal [checkrare.com]
- Prolapse
Uterine Prolapse: Descent of the uterus into the vaginal canal. Graded from 1 (mild) to 3 (uterus descends past the vulva). [kumc.edu]
Multiple pterygium syndrome Escobar type Severe congenital nemaline myopathy Epiphyseal dysplasia multiple with early-onset diabetes mellitus Gyrate atrophy of choroid and retina Calloso-genital dysplasia Sengers syndrome Trichothiodystrophy Mitral valve prolapse [checkrare.com]
Ears
- Ear Discharge
[…] impairment (47), Sensitive hearing (8), Ear sounds (16), Ear shapes (6), Ear discharge (4), Ear itching (1), Ear redness (0), Earlobe symptoms (3), Ear swelling (1), Ear fullness (1) Ear symptoms type of: Head symptoms (300), Face symptoms (165) Symptoms [cureresearch.com]
You can be born with it but usually it occurs as a complication of a long-standing (chronic) ear infection. The most common symptoms are a loss of hearing and a smelly discharge from the ear. [patient.info]
- Lop Ears
Lop ear Definition : The external ear stands away from the head at a greater angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. [sonoworld.com]
Lop ear Lop ear, excessive protrusion of the ear from the side of the head, is a more frequent but less serious deformity of the outer ear. Surgery may be performed to bring the ears back to a more normal and less conspicuous position. [britannica.com]
- Macrotia
Macrotia: Definition : Macrotia means large ears. The auricle is usually very large but well shaped without other ear malformations. The most exaggerated portion is the scaphoid fossa. [sonoworld.com]
Musculoskeletal
- Muscle Spasticity
[…] paraplegia 7 Spastic paraplegia 26 Trichodental syndrome Spastic paraplegia 5A Wagner syndrome Spasmodic dysphonia Al Gazali syndrome Paroxysmal exertion-induced dyskinesia KCNQ2-Related Disorders Orofaciodigital syndrome 5 Polyneuropathy mental retardation [checkrare.com]
Face, Head & Neck
- Short Nose
· Variant of De Lange type 2 syndrome : severe microcephaly, with mild mental retardation and hypotonia, and a dysmorphic facies: (flat profile, mild ptosis, short nose with a large tip and anteverted nares, narrow mouth ,very large, backward tilted [sonoworld.com]
Urogenital
- Cryptorchidism
6.0 P * 42665 Tietz syndrome 2 Families 65283 Timothy syndrome 20 Cases 314667 TMEM165-CDG 6 Cases 3460 Torg-Winchester syndrome 12 Cases 3338 Toriello-Carey syndrome 60 Cases 3339 Toriello-Lacassie-Droste syndrome 19 Cases 3341 Torticollis-keloids- cryptorchidism-renal [azkurs.org]
Associated anomalies: Commonly associated with the following Noonan syndrome : webbing of the neck, pectus excavatum, cryptorchidism, pulmonary stenosis. Ears are low-set with or without abnormal auricles. 25% have mental retardation. [sonoworld.com]
[…] syndrome Congenital central hypoventilation syndrome Alternating hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis type Timothy syndrome Myokymia with neonatal epilepsy Hyperthermia induced defects Torticollis keloids cryptorchidism [checkrare.com]
- Uremia
This deterioration may lead to chronic renal (kidney) failure causing excess waste products in the blood (uremia). Eventually severe renal failure may develop. Ureamia and kidney failure may cause heart and bone problems. [tsbvi.edu]
It occurs when the respiratory centers of the brain become insensitive to changes in CO 2 ASSOCIATED DISEASES: Congestive Heart Failure (CHF), Uremia, Meningitis, Pneumonia. [kumc.edu]
- Kidney Failure
This deterioration may lead to chronic renal (kidney) failure causing excess waste products in the blood (uremia). Eventually severe renal failure may develop. Ureamia and kidney failure may cause heart and bone problems. [tsbvi.edu]
Neurologic
- Spastic Paralysis
Motor defects, spastic paralysis on both sides of the body, blindness, deafness or seizures may develop. Vision loss in these children is related to scaring of the choroid (the dark brown vascular coat of the eye between the sclera and retina). [tsbvi.edu]
paralysis Agammaglobulinemia, microcephaly, and severe dermatitis Renal hypouricemia Microcephaly sparse hair mental retardation seizures Dentinogenesis imperfecta type 2 Early-onset, autosomal dominant Alzheimer disease Microduplication Xp11.22-p11.23 [checkrare.com]
Workup
This article reviews the pertinent anatomy of hearing, clinical workup of acquired hearing loss, and the radiologic appearance of common entities that cause acquired hearing loss. [appliedradiology.com]
Ultrasound
- Enlargement of the Liver
Enlargement of the liver and spleen, decrease in number of blood platelets, inflammation of the choroid and retina, abnormal smallness of the head, and calcification around the veins of the cerebral portion of the brain may occur. [tsbvi.edu]
Microbiology
- Streptococcus Pneumoniae
The infection is usually the result of Streptococcus pneumonia and is treated with antibiotics. When the middle ear is filled with fluid that is not infected, it is termed otitis media with effusion. [tinnitusformula.com]
Treatment
Surgical or prosthetic treatment of hearing loss was delayed because of hyperacusis. Treatment of the hyperacusis by acoustic training, instead, yielded excellent, long-lasting remission of the symptoms. [link.springer.com]
Name withheld, April 2018 A massive relief to have a correct diagnosis after 10 years or more treatment. We are obviously concerned about the forthcoming treatment but grateful to finally see an end in sight. [earsandhearinguk.com]
The only treatment that has proved effective (supported by double-blind trials) is corticosteroid treatment-usually Prednisone or Prednisolone. [hearinglosshelp.com]
Treatment Treatment consists of management of the underlying problem and aggressive local debridement. Topical and systemic antifungals are used as needed. [emedicine.medscape.com]
As such, we want to celebrate it.” – Katie Treatment Options: Do nothing. [clapa.com]
Prognosis
In patients with Langerhans cell histiocytosis, unifocal disease has good prognosis and responds well to local treatment. Multifocal disease also responds well to the treatment. Disseminated disease has a bad prognosis. [emedicine.medscape.com]
It occurs in fulminant acute pancreatitis and carries a grave prognosis. [kumc.edu]
Etiology
Etiology : Autosomal dominant inheritance in some cases [6]. Pathogenesis : unknown. [sonoworld.com]
Among the fungi, the species of Aspergillus are considered the predominant organisms implicated in the etiology of otomycosis in tropical countries. [emedicine.medscape.com]
The etiology is a congenital malformation that causes abnormal communication between the perilymphatic space and the subarachnoid space. [arquivosdeorl.org.br]
Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. Am J Otol 19:604–610. McKenna MJ, Kristiansen AG, Haines J. 1996. [dizziness-and-balance.com]
Decreased ventricular compliance is the most common etiology of S4 sound. ETIOLOGIES: Left-Sided: hypertension, aortic stenosis, angina pectoris. Right-Sided: pulmonary hypertension, pulmonic stenosis. [kumc.edu]
Epidemiology
Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]
From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations; [ommbid.mhmedical.com]
HIRSUTISM PHYSICAL EXAM: Return to top CHAPTER 9: MUSCULOSKELETAL EPIDEMIOLOGY : COMMON MUSCULOSKELETAL DISEASES BY AGE: Childhood: Juvenile RA, Rheumatic Fever Young adult: Reiter's Syndrome, SLE Middle Age: Fibrositis Old Age: Osteoarthritis COMMON [kumc.edu]
Pathophysiology
Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological [ommbid.mhmedical.com]
Pathophysiology [ edit ] This section is empty. [en.wikipedia.org]
Pathophysiology of otosclerosis. Otol Neurotol 22:249–257. McKenna MJ, Kristiansen AG, Bartley ML, Rogus JJ, Haines JL.1998. Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. [dizziness-and-balance.com]
Prevention
IS EXOSTOSIS PREVENTABLE? Exostosis is preventable by following some basic safety precautions. [californiaearinstitute.com]
Any obstruction can prevent sounds from passing through the middle ear and cause hearing loss. A buildup of wax, fluid in the middle ear, or a hole in the ear drum can each cause conductive hearing loss. [starkey.com]
Presbycusis can be prevented but once it occurs it joins the stable of other causes of sensorineural hearing loss and becomes permanent. [tinnitusformula.com]
How Can I Prevent Hearing Loss? Not all cases of hearing loss are preventable. [healthline.com]
Learn how to stay ENT healthy, prevent problems, and manage existing conditions to improve your, or a loved one’s, daily life. [entnet.org]