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

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
ChangZhi Liu ◽  
WeiRan Zhou ◽  
QuanE Liu ◽  
ZaiXin Peng

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.

Author(s):  
Sergey Armakov

Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinatal pathology, including hypoxia at childbirth, exposure to infectious and toxic agents and metabolic disorders, injuries (mechanical, acoustic and altitude trauma). Vascular-rheological disorders in the vertebro-basilar system play an important part because blood is supplied to the inner ear from the anterior inferior cerebellar artery. There are sudden, acute and chronic sensorineural hearing loss. The ensorineural hearing loss isdiagnosed by examinations that allow to verify the diagnosis and to determine the sound analyser damage level. This complex includes audiometric examinations, including the tuning fork examination, speech audiometry, and acoustic impedancemetry. If necessary, ultrasound Doppler imaging of the main blood vessels of the brain, computed tomography of the temporal bones, and MRI of the brain are prescribed. The pattern of comprehensive treatment should include, first of all, the elimination of the disease cause and anti-hypoxic drugs, anti-oxidants and a number of physiotherapy procedures.


2007 ◽  
Vol 143A (14) ◽  
pp. 1560-1566 ◽  
Author(s):  
Margaret A. Kenna ◽  
Heidi L. Rehm ◽  
Caroline D. Robson ◽  
Anna Frangulov ◽  
Jennifer McCallum ◽  
...  

2019 ◽  
Vol 11 (2) ◽  
pp. 97-102
Author(s):  
Carlos Eduardo B Rezende

The inner ear may be damaged by several autoimmune mechanisms, the most frequent manifestation being progressive sensorineural hearing loss with good responsiveness to immunosuppressants. Eiff work is justified by the need for further studies relating to sensorineural hearing loss mediated (DNSI), since the pathophysiology of this disease entity per obscure manece but positive response to immunosuppressive therapy enhances the existence of immunological mechanisms and autoimmune diseases. The overall objective of this work was to perform a literature review on sensorineural hearing loss immune-mediated-DNSI, focusing on the presentation forms and clinical manifestations, identifying the possible pathophysiological mechanisms involved in internal ear involvement. The specific focus was to establish a protocol to be followed to conduct a suspected case of DNSI, from diagnosis to treatment. The results found in the consulted literature show that the inner ear may be located within the organ-specific disease groups, or, more commonly, as a compromised organ within the systemic form, and hearing damage may be the first symptom. The index of inner ear impairment in systemic au toimunes is variable. It can be concluded that the hearing loss is neurossensoria may occur in patients with autoimmune disease and should always be taken in cases of hearing loss without apparent cause and the knowledge of autoimmune diseases and their correlation with the sensorineural hearing loss contributed significantly to the demystification of this type of hearing loss, allowing the institution of specific treatment.


2011 ◽  
Vol 6 (5) ◽  
pp. 346-349 ◽  
Author(s):  
Dale K. Miller ◽  
Amanda J. Brinson ◽  
Glenn Catalano ◽  
Maria C. Catalano

2020 ◽  
Vol 18 (4) ◽  
pp. 189-194
Author(s):  
A. Seidullayeva ◽  
◽  
D. Bayesheva ◽  
B. Turdalina ◽  
A. Altynbekova ◽  
...  

Bacterial meningitis (BM) is a widespread health problem characterized by severe clinical manifestations and high incidence of neurological complications. BM remains one of the main causes of disability and mortality among young children all over the world. Hearing loss is one of neurological complications associated with BM. It accounts for up to 60%–90% of all cases of acquired sensorineural hearing loss (SNHL). Between 2015 and 2018, we performed screening for SNHL among children who had had BM. Seven out of 62 patients examined (11.3%) were found to have SNHL. BM was primarily caused by Streptococcus pneumoniae (n = 4) and Neisseria meningitidis (n = 3). Three out of 4 patients had grade 3–4 SNHL. Computed tomography revealed cochlear ossification in two children and cochlear fibrosis in one child (who had successful cochlear implantation later). For the rest of the patients, we recommended hearing aids. We also found that hearing loss usually develops after BM and does not affect patients with viral meningitis (caused by enteroviruses). We recommend that children with BM undergo regular screening for SNHL (every 3 days during treatment) using otoacoustic emission. These patients should be also examined by an audiologist after discharge from hospital and then every three months for a year. Key words: children, cochlear implantation, meningitis, sensorineural hearing loss, acquired deafness


2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
G. Psillas ◽  
M. Daniilidis ◽  
A. Gerofotis ◽  
K. Veros ◽  
A. Vasilaki ◽  
...  

Sudden sensorineural hearing loss may be present as a symptom in systemic autoimmune diseases or may occur as a primary disorder without another organ involvement (autoimmune inner ear disease). The diagnosis of autoimmune inner ear disease is still predicated on clinical features, and to date specific diagnostic tests are not available. We report a case of bilateral sudden hearing loss, tinnitus, intense rotatory vertigo, and nausea in a female patient in which the clinical manifestations, in addition to raised levels of circulating immune complexes, antithyroglobulin antibodies, and the presence of the HLA A1-B8-DR3 haplotype, allowed us to hypothesize an autoimmune inner ear disease. Cyclosporine-A immunosuppressive treatment in addition to steroids helped in hearing recovery that occurred progressively with normalization of the hearing function after a five-month treatment. Cyclosporine-A could be proposed as a therapeutic option in case of autoimmune inner ear disease allowing the suspension of corticosteroids that, at high dose, expose patients to potentially serious adverse events.


2021 ◽  
pp. 019459982110088
Author(s):  
Jun W. Jeon ◽  
Julie Christensen ◽  
Jennifer Chisholm ◽  
Christopher Zalewski ◽  
Marjohn Rasooly ◽  
...  

Objective Loeys-Dietz syndrome (LDS) is a rare genetic connective tissue disorder resulting from TGF-ß signaling pathway defects and characterized by a wide spectrum of aortic aneurysm, arterial tortuosity, and various extravascular abnormalities. This study describes the audiologic, otologic, and craniofacial manifestations of LDS. Study Design Consecutive cross-sectional study. Setting Tertiary medical research institute. Methods Audiologic and clinical evaluations were conducted among 36 patients (mean ± SD age, 24 ± 17 years; 54% female) with genetically confirmed LDS. Cases were categorized into genetically based LDS types 1 to 4 ( TGFBR1, TGFBR2, SMAD3, TGFB2, respectively). Audiometric characteristics included degree and type of hearing loss: subclinical, conductive, mixed, and sensorineural. Results LDS types 1 to 4 included 11, 13, 5, and 7 patients, respectively. In LDS-1, 27% had bilateral conductive hearing loss; 9%, unilateral mixed; and 36%, subclinical. In LDS-2, 38% had conductive hearing loss and 38% subclinical. In LDS-3 and LDS-4, 40% and 43% had bilateral sensorineural hearing loss, respectively. Degree of hearing loss ranged from mild to moderate. Bifid uvula was observed only in LDS-1 (55%) and LDS-2 (62%). Submucosal/hard cleft palates were primarily in LDS-1 and LDS-2. Posttympanostomy tympanic membrane perforations occurred in 45% (10/22 ears) of LDS-1 and LDS-2. There were 4 cases of cholesteatoma: 3 middle ear (LDS-1 and LDS-2) and 1 external ear canal (LDS-3). Conclusion Conductive hearing loss, bifid uvula/cleft palate, and posttympanostomy tympanic membrane perforation are more common in LDS-1 and LDS-2 than LDS-3 and LDS-4, while sensorineural hearing loss was present only in LDS-3 and LDS-4. These LDS-associated key clinical presentations may facilitate an early diagnosis of LDS and thus prompt intervention to prevent related detrimental outcomes.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A392-A393
Author(s):  
Khulood Bukhari ◽  
Marjorie Pennant

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.


2010 ◽  
Vol 124 (12) ◽  
pp. 1268-1273 ◽  
Author(s):  
E J Lee ◽  
Y J Cho ◽  
Y J Yoon

AbstractObjective:Impaired cochlear perfusion appears to be the most important event in the development of sudden sensorineural hearing loss. Methylenetetrahydrofolate reductase gene mutations at nucleotide 677 cause reduced methylenetetrahydrofolate reductase enzyme activity, resulting in vascular impairment.Methods:Thirty-three patients and 68 control subjects underwent audiological and haematological investigation.Results:No statistically significant association was found between sudden sensorineural hearing loss and the methylenetetrahydrofolate reductase C677T gene mutation. Mean homocysteine and cholesterol concentrations were significantly higher in patients than in controls. Mean folate levels were significantly lower in patients than in controls. Amongst patients with sudden sensorineural hearing loss, no significant differences in mean cholesterol, homocysteine or folate concentration were found, comparing patients with methylenetetrahydrofolate reductase C677T mutation genotypes with those without.Conclusion:No statistically significant association was found between the methylenetetrahydrofolate reductase C677T gene mutation and sudden sensorineural hearing loss. There was a statistically significant difference between the homocysteine, folate and cholesterol concentrations of sudden sensorineural hearing loss patients, compared with controls. However, there was no statistically significant difference in these levels, comparing patients with and without the methylenetetrahydrofolate reductase C677T mutation.


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