‘H-syndrome’: a multisystem genetic disorder with cutaneous clues

2021 ◽  
Vol 14 (5) ◽  
pp. e238973
Author(s):  
Krishna Shantilal Mori ◽  
Karthik Balachandran ◽  
Adyne Reena Asirvatham ◽  
Shriraam Mahadevan
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Short Stature ◽  
World Literature ◽  
Genetic Disorder ◽  
Insulin Dependent Diabetes Mellitus ◽  
Sensorineural Hearing ◽  
Dependent Diabetes Mellitus ◽  
Homozygous Mutation ◽  
Rare Syndrome

We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. His phenotype was consistent with that of a rare autosomal recessive genodermatosis of ‘H-syndrome’. The diagnosis was confirmed by genetic analysis using next-generation sequencing which showed a homozygous mutation in the SLC29A3 gene (variant: c.1330G>T (p.Glu444Ter)) which was confirmed by Sanger sequencing. This is a rare syndrome with around 100 cases reported in world literature. Though the skin manifestations are pathognomonic of the H-syndrome, it has myriad presentations like short stature, insulin-dependent diabetes mellitus, hypogonadism, hypothyroidism, dyslipidaemia, cardiac anomalies and sensorineural hearing loss. We report this case to highlight the constellation of features of this rare syndrome and bring awareness among the physicians to be vigilant about this 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.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting with sudden sensorineural hearing loss

2005 ◽  
Vol 119 (2) ◽  
pp. 148-151 ◽  
Author(s):  
John S Phillips ◽  
Jacquelyn A King ◽  
Siddharthan Chandran ◽  
Peter R Prinsley ◽  
David Dick
Keyword(s):  
Hearing Loss ◽  
Family History ◽  
Sensorineural Hearing Loss ◽  
World Literature ◽  
Autosomal Dominant ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Cerebrovascular Events ◽  
The World

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant angiopathy characterized by recurrent cerebrovascular events, migraine and dementia. We describe a case of sensorineural hearing loss as the presenting feature of this condition. We have found no previous reports in the world literature of CADASIL presenting with a sudden sensorineural hearing loss. The significance of questioning a patient with regard to family history is exemplified in this case.

Unilateral hearing loss as primary symptom of craniopharyngioma in a six-year-old girl

2008 ◽  
Vol 122 (3) ◽  
Author(s):  
R Hofman ◽  
H J Rosingh
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Sensorineural Hearing Loss ◽  
Otoacoustic Emissions ◽  
World Literature ◽  
Rare Case ◽  
Sensorineural Hearing ◽  
Unilateral Hearing Loss ◽  
Magnetic Resonance Scanning ◽  
Internal Acoustic Canal

AbstractObjective:We report a rare case of otological presentation of craniopharyngioma.Method:Case report and review of world literature concerning presentations of craniopharyngioma.Results:A six-year-old girl was referred to our department with unilateral hearing loss. This appeared to be a complete sensorineural hearing loss. Otoacoustic emissions were reproducible on both sides. Magnetic resonance scanning revealed a massive, cystic craniopharyngioma exerting pressure on the patient's ventricular system and brainstem and also invading the internal acoustic canal. The mass was resected via a craniotomy. The patient's hearing loss completely recovered, and she experienced no neurological or endocrinological side effects of the treatment. Craniopharyngioma have a prevalence of 0.13–2:100 000.Conclusion:Craniopharyngioma is a rare disease. First presentation with otological symptoms is extremely rare. Otoacoustic emissions can differentiate between cochlear and retrocochlear causes of sensorineural hearing loss.

scholarly journals Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kan Wu ◽  
Zhumei Li ◽  
Yuhua Zhu ◽  
Xiaocheng Wang ◽  
Guohui Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinal Detachment ◽  
Sensorineural Hearing Loss ◽  
Short Stature ◽  
Sensorineural Hearing ◽  
Spondyloepiphyseal Dysplasia ◽  
Auditory Ossicles ◽  
The Family ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Wrist Joints

Abstract Background Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirmed as the pathogenic gene. Hearing loss represents an infrequent manifestation for 25–30% of patients with SEDC. The characteristics of the hearing impairment were rarely documented. Methods Audiological, ophthalmic, imaging examinations were conducted on the family members. The whole exome sequencing (WES) was performed to detect the candidate gene, and the Sanger sequencing was used to confirm the causative variation. Results COL2A1 c.1510G>A (p.G504S), a hot spot variation, was identified as the disease-causing mutation of the Chinese Li nationality family with SEDC. This variation was co-segregated with the SEDC phenotype in the family and was absent in the 1000 Genomes Project, ESP and ExAC. Clinically, several manifestations were first demonstrated in SEDC patients caused by p.G504S, including sensorineural hearing loss, auditory ossicles deformity, retinal detachment, sacrum cracked and elbow and wrist joints deformity. Other classical SEDC manifestations such as bones and joints pain, midfacial dysplasia, disproportionate short stature, spinal deformity, thoracocyllosis, coxa arthropathy, myopia and waddling gait were also showed in the family patients. Conclusion We first identified the mutation p.G504S in COL2A1 gene as the pathogenesis in a Chinese Li nationality family and reported the correlation between p.G504S and atypical clinical phenotypes including sensorineural hearing loss, auditory ossicles deformity, retinal detachment, sacrum cracked and elbow and wrist joints deformity. Our findings would extend the phenotypic spectrum of SEDC and deepen clinicians' understanding of genotype–phenotype correlation of the disease.

scholarly journals Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zuzana Pavlenkova ◽  
Lukas Varga ◽  
Silvia Borecka ◽  
Miloslav Karhanek ◽  
Miloslava Huckova ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Sensorineural Hearing ◽  
Variant Of Uncertain Significance ◽  
Pathogenic Variants ◽  
Causal Genes ◽  
Uncertain Significance

AbstractThe genetic heterogeneity of sensorineural hearing loss (SNHL) is a major hurdle to the detection of disease-causing variants. We aimed to identify underlying causal genes associated with mid-frequency hearing loss (HL), which contributes to less than about 1% of SNHL cases, by whole exome sequencing (WES). Thirty families segregating mid-frequency SNHL, in whom biallelic GJB2 mutations had been previously excluded, were selected from among 851 families in our DNA repository of SNHL. DNA samples from the probands were subjected to WES analysis and searched for candidate variants associated with SNHL. We were able to identify the genetic aetiology in six probands (20%). In total, we found three pathogenic and three likely pathogenic variants in four genes (COL4A5, OTOGL, TECTA, TMPRSS3). One more proband was a compound heterozygote for a pathogenic variant and a variant of uncertain significance (VUS) in MYO15A gene. To date, MYO15A and TMPRSS3 have not yet been described in association with mid-frequency SNHL. In eight additional probands, eight candidate VUS variants were detected in five genes (DIAPH1, MYO7A, TECTA, TMC1, TSPEAR). Seven of these 16 variants have not yet been published or mentioned in the available databases. The most prevalent gene was TECTA, identified in 23% of all tested families. Furthermore, we confirmed the hypothesis that a substantive portion of cases with this conspicuous audiogram shape is a consequence of a genetic disorder.

Hearing impairment in association with distal renal tubular acidosis among Saudi children

1995 ◽  
Vol 109 (10) ◽  
pp. 930-934 ◽  
Author(s):  
Siraj M. Zakzouk ◽  
Samia H. Sobki ◽  
Faizeh Mansour ◽  
Fatma H. Al Anazy
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Renal Tubular Acidosis ◽  
Genetic Disorder ◽  
Distal Renal Tubular Acidosis ◽  
Sensorineural Hearing ◽  
Arranged Marriages ◽  
Renal Tubular ◽  
Tribal Tradition ◽  
Conductive Hearing

AbstractA follow-up of seven patients with the autosomal recessive inherited syndrome of distal renal tubular acidosis (RTA) and sensorineural hearing loss is described. Five patients were diagnosed as having primary distal renal tubular acidosis and rickets, four were found to have severe sensorineural hearing loss of over 80 dB: two of which are brothers. Two patients were diagnosed as having secondary distal renal acidosis due to a genetic disorder called osteopetrosis; they are brothers and their audiograms showed a mild conductive hearing loss of an average 35 dB bilaterally. All patients had growth retardation with improvement due to alkaline therapy but their hearing loss was not affected by the medication. The pedigrees of two families with half sibs showed the familial incidence for consanguineous marriage. Consanguinity was found to be positive in five out of the seven patients. The tribal tradition in Saudi Arabia fosters consanguineous marriages for cultural and social reasons and pre-arranged marriages are still seen.

Intracranial Aneurysm Occurring as Sensorineural Hearing Loss

1981 ◽  
Vol 89 (2) ◽  
pp. 283-287 ◽  
Author(s):  
Joe B. Colclasure ◽  
Sharon S. Graham
Keyword(s):  
Hearing Loss ◽  
Intracranial Aneurysm ◽  
Sensorineural Hearing Loss ◽  
World Literature ◽  
Signs And Symptoms ◽  
Sudden Hearing Loss ◽  
Sudden Onset ◽  
Sensorineural Hearing ◽  
Hearing Sensitivity ◽  
Bilateral Sensorineural Hearing Loss

Reports of sudden hearing loss as the first sign of an intracranial aneurysm are sparse and published primarily in the neurologic literature. A case report is presented in which the initial signs and symptoms of a lobular aneurysm in the posterior communicating artery were the sudden onset of bilateral sensorineural hearing loss, tinnitus, and headache. Following evaluation and identification of the aneurysm, this patient underwent a craniotomy with clipping of the aneurysm; hearing sensitivity improved dramatically following surgery. The world literature is reviewed for cases in which aneurysms have initially occurred as hearing loss, tinnitus, or both. Intracranial aneurysm is discussed as a rare, potential source of a sudden sensorineural hearing loss.

Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration

2017 ◽  
Vol 28 (01) ◽  
pp. 080-090
Author(s):  
Danielle Mercer ◽  
Annette Hurley ◽  
Fern Tsien
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Auditory Processing ◽  
Xeroderma Pigmentosum ◽  
Genetic Disorder ◽  
Sensorineural Hearing ◽  
Central Component ◽  
Neural Degeneration ◽  
Hearing Sensitivity ◽  
Charcot Marie Tooth Disease

AbstractXeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss.Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss.This is a case report of a patient with XP subtype D, type 1 diabetes, and some clinical features typical of Charcot-Marie-Tooth disease.We obtained audiological evaluations over a course of 11 yr, including serial audiograms, auditory processing disorders evaluations, and electrophysiological testing.Hearing sensitivity has progressed from a unilateral mild high-frequency sensorineural hearing loss to a bilateral sloping moderate to severe/profound sensorineural hearing loss. In addition to the dramatic decline in hearing sensitivity, the patient demonstrates global auditory processing deficits, indicating a central component to his hearing loss.These findings emphasize the importance of the contribution of audiological evaluations to the diagnosis of a genetic disorder. Periodic evaluations of hearing sensitivity and auditory processing can provide information on disease progression in patients with XP with neural degeneration.

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