COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis

Abstract Introduction: Maternally inherited diabetes and deafness (MIDD) is a multisystem disorder characterized by insulinopenia and sensorineural hearing loss. This rare form of monogenic diabetes is most commonly associated with the A3243G mutation of mitochondrial DNA (mtDNA). The same mutation is seen in 80 percent of patients with MELAS (Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes). MIDD and MELAS have overlapping features suggesting a continuum of expression for the A3243G mutation. Clinical Case: A 41-year-old male was referred for genetic testing and counseling by his ophthalmologist following detection of bilateral punched-out retinal pigment epithelium (RPE) lesions on routine exam. His medical history was significant for type 1 diabetes mellitus (T1DM) diagnosed at the age of 21 and bilateral sensorineural hearing loss diagnosed at the age of 38. The referral was triggered by patient reported family history of MELAS in two of his brothers who were both diagnosed at the age of 10 and died at the ages of 20 and 27. Whether the patient was previously tested during early childhood remains unclear. His medical history was negative for stroke-like episodes or seizures. Neurologic evaluation revealed mild fluent aphasia with paraphasic errors and some comprehension difficulties. MRI of the brain without contrast showed no focus of restricted diffusion. Mitochondrial DNA sequence analysis was performed. A pathogenic variant (m.3243 A>G) was detected in the MT-TL1 gene at approximately 25% heteroplasmy. The patient was advised to avoid metformin given increased risk for lactic acidosis. He was also instructed against use of statins. At the age of 45, the patient presented to the emergency department (ED) with a complaint of headache, vertigo and incoordination. Physical examination revealed left homonymous hemianopsia, right horizontal nystagmus and bilateral upper extremity dysmetria. MRI of the brain without contrast showed a large area of predominantly cortical restricted diffusion involving the right temporal and occipital region with associated T2/FLAIR hyper-intensity. Cross over between the PCA and MCA territories was suggestive of a stroke-like episode related to MELAS. The patient received a bolus of IV arginine at 0.5 g/kg followed by an IV infusion of 0.5 g/kg/day for 3 days. He was later transitioned to oral arginine 5g three times daily and was discharged to a rehab facility. Clinical Lesson: This case demonstrates the evolution of MIDD to MELAS, supporting the concept that both syndromes represent a spectrum of the same disease. A few case reports describe the progression of MIDD to MELAS. Why some patients develop MELAS and others develop MIDD is unclear but may be related to heteroplasmy. Early identification of MIDD and MELAS is crucial given associated comorbidities and unique management issues.

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Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

10.32388/iu1612 ◽

2020 ◽

Author(s):

Keyword(s):

Hearing Loss ◽

Hypertrophic Cardiomyopathy ◽

Sensorineural Hearing Loss ◽

Sensorineural Hearing

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Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report

BMC Endocrine Disorders ◽

10.1186/s12902-021-00924-1 ◽

2022 ◽

Vol 22 (1) ◽

Author(s):

ChangZhi Liu ◽

WeiRan Zhou ◽

QuanE Liu ◽

ZaiXin Peng

Keyword(s):

Hearing Loss ◽

Lactic Acidosis ◽

Sensorineural Hearing Loss ◽

Gene Mutation ◽

Clinical Manifestations ◽

Severe Hypoglycemia ◽

Sensorineural Hearing ◽

Chinese Girl ◽

Recurrent Vomiting ◽

Mitochondrial Defects

Abstract Background Mitochondrial ribosomal protein S2 (MRPS2) gene mutation, which is related to severe hypoglycemia and lactic acidosis, is rarely reported globally. Case presentation We report a case of a new MRPS2 gene mutation in a Chinese girl who presented with hypoglycemia and lactic acidosis. A homozygous C.412C > G variant that could cause complex oxidative phosphorylation deficiency and had not been reported before was identified. The clinical manifestations included recurrent vomiting, hypoglycemia, lactic acidosis, sensorineural hearing loss, and gall bladder calculi. Hypoglycemia and lactic acidosis improved after the administration of sugary liquid and supportive treatments. Conclusions Recurrent hypoglycemia with lactic acidosis and sensorineural hearing loss should lead to suspicion of mitochondrial defects and the early refinement of genetic tests.

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Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report

Radiology Case Reports ◽

10.1016/j.radcr.2021.04.049 ◽

2021 ◽

Vol 16 (7) ◽

pp. 1865-1869

Author(s):

T.M. Trang ◽

P.C. Chien ◽

B.T. Dung ◽

N.T.H. Thu ◽

N.T.T. Truc ◽

...

Keyword(s):

Hearing Loss ◽

Case Report ◽

Lactic Acidosis ◽

Sensorineural Hearing Loss ◽

Sensorineural Hearing ◽

Mitochondrial Encephalomyopathy ◽

Adult Onset ◽

Melas Syndrome

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Sensorineural Hearing Loss in Rheumatoid Arthritis

International Journal of Health Sciences and Research ◽

10.52403/ijhsr.20211212 ◽

2021 ◽

Vol 11 (12) ◽

pp. 79-82

Author(s):

Shelja Deswal ◽

Jyoti Yadav ◽

Mridul Yadav

Keyword(s):

Rheumatoid Arthritis ◽

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Hearing Threshold ◽

Pure Tone Audiometry ◽

Sensorineural Hearing ◽

Unknown Etiology ◽

Control Group ◽

Multisystem Disease ◽

Organ Systems

Introduction: Rheumatoid arthritis (RA) is a chronic multisystem disease of unknown etiology is characterized by persistent inflammatory synovitis, usually involving peripheral joints in a symmetric distribution. RA is well known to affect many organ systems, including the auditory system and can involve the incudomalleolar and incudostapedial joints altering the ossicular mechanics in response to static air pressure modifications. Objective: This study evaluates the degree of sensorineural hearing loss in patients with rheumatoid arthritis (RA) Material and Methods: This study was conducted in the Department of Physiology in collaboration with departments of Medicine and ENT Pt. B.D. Sharma PGIMS, Rohtak. 25 rheumatoid arthritis female patients with disease duration of more than five years as per 1987 criteria of American college of rheumatology were included in the study to study the effect of rheumatoid arthritis on hearing. 25 healthy volunteer females were included in control group. Audiological evaluation was based on pure tone audiometry. Results: We observed a high incidence of hearing loss in rheumatoid arthritis patients as compared to corresponding age and sex matched controls. Nine RA (36%) cases, were having hearing threshold more than 25 dB. Of the total of 36% patients having hearing loss 24% patients had sensorineural hearing loss. Bilateral hearing loss was seen in 8% of cases. Conclusion: Based on our study it can be postulated that patients with RA are at higher risk of hearing impairment. Key words: Rheumatoid arthritis, hearing, sensorineural, audiometry.

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