scholarly journals Waardenburg Syndrome: A Case Report

2019 ◽  
pp. 1-4
Author(s):  
Sara Sadiq ◽  
Azizullah Langah ◽  
Ali Akbar Siyal ◽  
Noor Ul Ain Ali
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Congenital Deafness ◽  
Waardenburg Syndrome ◽  
Degree Relative ◽  
Heterochromia Iridis ◽  
Dystopia Canthorum ◽  
Minor Criteria

Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophrys, dystopia canthorum, broad and high nasal root and congenital deafness. The diagnostic criteria consist of major and minor criteria; major includes congenital sensorineural hearing loss, pigmentary abnormality in iris, segmental, partial or complete heterochromia iridis, isohypochromia, fore hair’s achromia, dystopia canthorum and affected first degree relative while minor criteria include congenital leukoderma, synophrys, broad and high nasal root, hypoplasia of nasal alae and premature graying of hair. Herein we report a case of two days old baby boy having uncommon pigmentation of hair and iris beside dystopia canthorum. He was diagnosed as a case of Waardenburg Syndrome type1 (WS1).

scholarly journals Waardenburg Syndrome Type 1 in an Infant Diagnosed with Congenital Hypothyroidism

2019 ◽  
Vol 39 (1) ◽  
pp. 60-62
Author(s):  
Kavinda Chandimal Dayasiri ◽  
Chamila Perera ◽  
Wasana Bandara ◽  
Jagath Ranasinghe
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Features ◽  
Congenital Hypothyroidism ◽  
Autosomal Dominant ◽  
Incidental Finding ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Minor Criteria

Waardenburg syndrome type 1 is a rare autosomal dominant auditory-pigmentary syndrome characterised by pigmentary abnormalities of the hair, skin, and eyes associated with congenital non-progressive sensorineural hearing loss. Diagnosis is usually clinical and based on the characteristic clinical features which constitute major and minor criteria. Though hypothyroidism has been described among family members of children with Waardenburg syndrome type 1 there is no reported existence of the two conditions in the same patient. Here we report Waardenburg Syndrome Type 1 in an infant who was already diagnosed to have congenital hypothyroidism and whether it would be a co incidental finding or an association needs further evaluation.

scholarly journals Oral manifestation of Waardenburg syndrome: a case report and review of the literature

2020 ◽  
Vol 6 (4) ◽  
pp. 20200071
Author(s):  
Rohan Jagtap ◽  
Ambika Srivastava ◽  
Aniket Jadhav ◽  
Swati Gupta
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Medical Literature ◽  
Genetic Disorder ◽  
Neural Crest Cell ◽  
Waardenburg Syndrome ◽  
Oral Manifestation ◽  
Heterochromia Iridis ◽  
Neural Crest Cell Migration ◽  
Crest Cell

Waardenburg syndrome is a rare autosomal dominant genetic disorder of neural crest cell migration. It is characterized by congenital sensorineural hearing loss, heterochromia iridis, depigmentation of hair and skin, and increased intercanthal distance. It is subdivided into four subtypes with I and II being most common. These subtypes are categorized based on genetic mutations. Although medical literature has well documented this syndrome, dental and radiographical findings have been rarely presented. In this case report and literature review, we have presented and discussed oral as well as head and neck radiology findings of a 20-year-old girl with Waardenburg syndrome.

Metronidazole ototoxicity - report of two cases

1999 ◽  
Vol 113 (4) ◽  
pp. 355-357 ◽  
Author(s):  
S. M. Iqbal ◽  
J. G. Murthy ◽  
P. K. Banerjee ◽  
K. A. Vishwanathan
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Oral Administration ◽  
Sensorineural Hearing Loss ◽  
Steroid Therapy ◽  
World Literature ◽  
Sensorineural Hearing ◽  
Oral Steroid ◽  
The World ◽  
Oral Steroid Therapy

AbstractTwo cases of bilateral moderate to severe sensorineural hearing loss due to oral administration of metronidazole are reported. There has been only one case report of deafness following metronidazole therapy in the world literature. The hearing loss recovered gradually in a period of four to six weeks following withdrawal of drug and oral steroid therapy. The possible mechanism of ototoxicity is discussed. Awareness by the treating physician of ototoxicity due to any drug is stressed.

Bilateral profound sudden sensorineural hearing loss presenting a diagnostic conundrum in a child with sickle cell anaemia

2008 ◽  
Vol 123 (7) ◽  
pp. 811-816 ◽  
Author(s):  
A D Mace ◽  
M S Ferguson ◽  
M Offer ◽  
K Ghufoor ◽  
M J Wareing
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Sensorineural Hearing Loss ◽  
Sickle Cell ◽  
Cochlear Implantation ◽  
World Literature ◽  
Sickle Cell Anaemia ◽  
Early Recognition ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing

AbstractObjective:To present the first published case of a child with bilateral profound sudden sensorineural hearing loss found in association with sickle cell anaemia, and to demonstrate the importance of early recognition, investigation and empirical treatment of sudden sensorineural hearing loss.Method:Case report and review of world literature.Case report:The authors present the case of a seven-year-old child with known sickle cell anaemia, who presented with bilateral profound sensorineural hearing loss developing over a period of five days. There was a history of ophthalmological disease in the preceding weeks, and inflammatory markers were raised. The differential diagnosis included a vaso-occlusive or inflammatory aetiology such as Cogan's syndrome, and treatment for both was instigated. Hearing thresholds did not recover, and the patient underwent cochlear implantation 12 weeks later.Conclusion:Sudden sensorineural hearing loss has a variable aetiology and is rare in children. Immediate treatment for all possible aetiologies is essential, along with targeted investigations and early referral for cochlear implantation if no recovery is demonstrated.

scholarly journals Alport Syndrome: The Eye as a Window to the Human Body

2021 ◽  
Vol 33 (3) ◽  
pp. 46-48
Author(s):  
Aysha Tareq Nusef ◽  
Abdulla Almoosa ◽  
Wael Wagih Aly
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Renal Insufficiency ◽  
Sensorineural Hearing Loss ◽  
Alport Syndrome ◽  
Crystalline Lens ◽  
Secondary Hypertension ◽  
Sensorineural Hearing ◽  
Blurred Vision ◽  
Ophthalmic Manifestations

Alport syndrome (AS) is a rare genetic disease affecting type four collagen production, causing renal, auditory, and ophthalmic manifestations. This case report is about a 32-year-old male who was a known case of renal insufficiency and secondary hypertension and was referred to the ophthalmology department due to blurred vision. Based on the patient‘s history and ophthalmological findings, AS was diagnosed. Ophthalmic examination showed anterior lenticonus associated with sensorineural hearing loss (SNHL) and impaired renal function. This clinical case report sheds light on the role of ophthalmology in diagnosing AS. Keywords: Collagen, Crystalline lens, Hereditary nephritis, Ophthalmology, Renal insufficiency, Sensorineural hearing loss

scholarly journals Superficial Siderosis and Sudden Sensorineural Hearing Loss: A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-2
Author(s):  
Kirsti S. V. Lee ◽  
Niranjan Sritharan ◽  
Allan Forrest
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Sensorineural Hearing Loss ◽  
Unusual Case ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Superficial Siderosis ◽  
Imaging Features ◽  
Delayed Complication ◽  
Magnetic Resonance Imaging Mri

This case report highlights an unusual case of sudden sensorineural hearing loss related to superficial siderosis (SS). Our patient had a craniotomy for medulloblastoma 23 years earlier, and this may represent a delayed complication related to this procedure. Magnetic resonance imaging (MRI) remains the key diagnostic investigation to illustrate the imaging features of superficial siderosis and exclude other pathologies. Increased awareness of progressive and sudden hearing complications caused by SS is important in the otolaryngologic community to expedite management and better counsel patients during the consent process.

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