scholarly journals Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

2021 ◽  
Vol 12 ◽  
Author(s):  
Guangmin Chen ◽  
Ling Zhou ◽  
Qimou Chen ◽  
Juan Wang ◽  
Peng Jiang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Intellectual Disability ◽  
Hair Loss ◽  
Gonadal Development ◽  
Inherited Disease ◽  
Consanguineous Family ◽  
Extrapyramidal Syndrome ◽  
Gonadal Agenesis ◽  
Genetic Results

Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal syndrome, and is usually caused by mutations in the DCAF17 gene as an inherited disease. DCAF17 plays an important role in mammalian gonadal development and infertility. So far, there have been no WSS reports in China. The patient introduced in this case is from a consanguineous family. The main symptoms of the patient were alopecia and gonadal agenesis. Other symptoms such as hearing loss, intellectual disability, and hyperglycemia were remarkable, and these symptoms are often observed in WSS patients. We found a nonsense mutation in the 11th exon of the gene DCAF17 (Refseq: NM_025000) in the patient and her younger brother, which confirmed the diagnosis of WSS. The genetic results also showed that the mutation was inherited from their healthy first-cousin parents.

scholarly journals Successive ipsilateral surgery of Vibrant Soundbridge and Bonebridge devices for congenital bilateral conductive hearing loss: a case report

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052097228
Author(s):  
Yujie Liu ◽  
Ran Ren ◽  
Shouqin Zhao
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Conductive Hearing Loss ◽  
Vibrant Soundbridge ◽  
Patient’S Experience ◽  
Hearing Devices ◽  
Conductive Hearing ◽  
Subjective Outcomes

The Bonebridge and Vibrant Soundbridge systems are semi-implanted hearing devices, which have been widely applied in patients with congenital conductive hearing loss. However, comparison between these two hearing devices is rare, especially in the same patient. We report a 23-year-old man who underwent successive implantation of Vibrant Soundbridge and Bonebridge devices in the same ear because of dysfunction of the Vibrant Soundbridge. We provide insight on the patient’s experience and compare the audiological and subjective outcomes of satisfaction.

scholarly journals A case report of unilateral conductive hearing loss as a consequence of malignant sinonasal melanoma: the importance of completing a full clinical history and examination

2020 ◽  
Vol 36 (1) ◽  
Author(s):  
Victoria Blackabey ◽  
Olivia Kenyon ◽  
Rishi Talwar
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Clinical Symptoms ◽  
Symptomatic Relief ◽  
Clinical History ◽  
Histological Diagnosis ◽  
Unusual Presentation ◽  
Sinus Surgery ◽  
Cancer Management ◽  
The Right

Abstract Background Sinonasal melanoma is a rare head and neck tumour. It is associated with a poor prognosis, high rates of loco-regional recurrence and distant metastasis. Treatment of the disease is therefore complicated, and because of limited data regarding the cancer, management is frequently tailored to the individual patient. We describe an unusual presentation of sinonasal melanoma with relevant histology, radiology and clinical photography. Case presentation The case report describes the presentation of a 64-year-old man to the Ear, Nose and Throat department with progressive right-sided hearing loss. A thorough history highlighted other clinical symptoms including unilateral nasal obstruction and epistaxis. Clinical examination showed a right middle ear effusion with a polypoidal lesion in the right nasal cavity. Relevant imaging demonstrated a destructive process that required further assessment. An endoscopic sinus procedure was performed to obtain histological diagnosis as well as providing symptomatic relief. Histology confirmed malignant mucosal melanoma. The patient underwent maxillectomy and orbital exenteration (due to further progression of disease) at a tertiary centre with a plan for subsequent immunotherapy. This however has been delayed due to further surgery to excise a metastatic lesion to the right femur. Conclusions This case report highlights the importance of a thorough clinical history and examination. An unusual presentation of a sinonasal tumour can easily be missed leading to a significant delay in treatment. The case report also describes the use of functional endoscopic sinus surgery in order to obtain histological diagnosis and to debulk the tumour, providing symptomatic relief. The current literature regarding management will be discussed as well as current developments guiding future treatment.

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

2016 ◽  
Vol 173 (3) ◽  
pp. 638-646 ◽  
Author(s):  
Arianna Tucci ◽  
Lidia Pezzani ◽  
Giulietta Scuvera ◽  
Luisa Ronzoni ◽  
Elisa Scola ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Cutis Verticis Gyrata

Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family

2005 ◽  
Vol 50 (2) ◽  
pp. 237-242 ◽  
Author(s):  
L.M. Paula ◽  
N.S. Melo ◽  
E.N. Silva Guerra ◽  
D.H. Mestrinho ◽  
A.C. Acevedo
Keyword(s):  
Case Report ◽  
Amelogenesis Imperfecta ◽  
Consanguineous Family ◽  
Rare Syndrome

Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

2013 ◽  
Vol 85 (4) ◽  
pp. 390-392
Author(s):  
S. Dad ◽  
E. Østergaard ◽  
K.A. Wadt ◽  
J. Lunding ◽  
H. Eiberg ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Consanguineous Family

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.

Alopecia in preexisting autoimmune thyroid disease in family medicine practice: can hyperprolactinemia induce hair loss? A case report

2021 ◽  
Vol 30 (2) ◽  
Author(s):  
Zvonimir Bosnić ◽  
Blaženka Šarić ◽  
Domagoj Vučić ◽  
Božidar Kovačević ◽  
Nikica Marinić ◽  
...  
Keyword(s):  
Case Report ◽  
Family Medicine ◽  
Hair Loss ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Autoimmune Thyroid

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

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