scholarly journals Brown Vialetto Van Laere syndrome, a fatal disease with a simple solution: a case series

2019 ◽  
Vol 6 (2) ◽  
pp. 880
Author(s):  
Nishant Mittal ◽  
Mahesh Kamate

Brown Vialetto Van Laere (BVVL) syndrome is an extremely rare neuro metabolic disorder postulated to be caused by a defect in riboflavin transporter. The disease is characterized by progressive hearing loss with ataxia and difficulty in swallowing and breathing. The diagnosis of the disease requires great deal of suspicion on the part of treating physician. Here authors present 2 cases of BVVL who presented to us with dysphagia and hearing loss and responded to therapy. Brown Vialetto Van Laere (BVVL) syndrome is an extremely rare neuro metabolic disorder postulated to be caused by a defect in Riboflavin transporter. The disease is characterised by progressive hearing loss with ataxia and difficulty in swallowing and breathing. It is a subset in multiple acyl CoA dehydrogenase deficiency (MADD disorder). Age of onset is generally first to third decade of life. Lower cranial nerve involvement with LMN and UMN signs concomitantly is the striking feature. There is no specific treatment for BVVL except supportive care. Response to high dose riboflavin (20mg/kg/day) has produced promising results but the results may take anywhere from 1 week to 12 months to appear. 

2021 ◽  
Vol 104 (12) ◽  
pp. 1992-1999

Background: Cryptococcal infection, especially cryptococcal meningitis, is the most common cause of central nervous system (CNS) infection with a high mortality rate in patients with systemic lupus erythematosus (SLE). The clinical features of cryptococcal meningitis may be non-specific, which may lead to miss or delay diagnosis and treatment. Objective: To collect the case series of SLE patients with cryptococcosis treated in Nongkhai Hospital between 2013 and 2021 and compared it with other studies. Materials and Methods: The medical records of SLE patients (ICD-10 M320-M329) with cryptococcal infection (ICD-10 B450-B459) treated in Nongkhai Hospital between 2013 and 2021 were reviewed and collected onto a medical record form. The following information were obtained, gender, occupation, age at SLE diagnosis, age of onset, duration of disease, comorbid or risks, previous infection, SLE disease activity, glucocorticoids, and immunosuppressors administered before or at infection diagnosis, cryptococcosis clinical manifestations, laboratory data, Cerebrospinal fluid (CSF) findings, antifungal agents used, and outcomes. Results: Six hundred thirty-six patients with SLE were identified and six patients developed cryptococcosis. Five patients had cryptococcal meningitis and one patient had cryptococcocemia. Fever and headache were the symptoms of all patients. CSF cryptococcal antigen was positive in five patients. Antifungal therapy was initiated as soon as the diagnosis was confirmed in all patients. Five patients (83.3%) recovered completely, and one patient was against the advice. Conclusion: The present study suggested that SLE patients presenting with fever and headache along with a history of moderate to high dose steroids and immunosuppressants administration should always be suspected of cryptococcal infection and cryptococcal meningitis. Meanwhile, CSF cryptococcal antigens are the effective screening tools to establish an early diagnosis. Accordingly, early appropriate treatment is crucial for a favorable outcome. Keywords: Cryptococcal infection; Cryptococcosis; Cryptococcal meningitis; SLE; Lupus


1995 ◽  
Vol 109 (11) ◽  
pp. 1089-1093 ◽  
Author(s):  
B. J. O'Reilly ◽  
E. H. Burrows

AbstractHearing loss and vertigo are uncommon but well-recognized complications of neurosarcoidosis. Until recently the site of the lesion has been debatable and the efficacy of steroids commonly prescribed for this type of hearing loss has been said to be doubtful. A case is presented of sarcoidosis-induced hearing loss in which bilateral VIIIth nerve lesions were demonstrable by MRI with gadolinium enhancement. Treatment with high- dose steroids and azathioprine produced a symptomatic improvement and virtual resolution of the lesions.


2015 ◽  
Vol 129 (5) ◽  
pp. 504-508 ◽  
Author(s):  
R Chandran ◽  
M Alexander ◽  
P Naina ◽  
A Balraj

AbstractBackground:Brown–Vialetto–Van Laere syndrome is a rare neurological disorder characterised by pontobulbar palsy and sensorineural hearing loss. Hearing rehabilitation continues to be a challenge because the exact lesion site is unknown.Case report:We examined the clinical and audiological profiles of a case series comprising four siblings with Brown–Vialetto–Van Laere syndrome who had decreased hearing and poor speech discrimination. Audiological investigations revealed normal otoacoustic emissions with absent auditory brainstem responses and middle-ear reflexes in sensorineural hearing loss, suggestive of auditory neuropathy spectrum disorder.Conclusion:The sensorineural hearing loss in Brown–Vialetto–Van Laere syndrome patients is a retrocochlear pathology resembling auditory neuropathy spectrum disorder, with the lesion being most probably of post-synaptic origin. Early cochlear implantation along with high-dose riboflavin represents a possible rehabilitation therapy. However, further research is needed to confirm this. This report emphasises the need for a thorough neurological evaluation of auditory neuropathy spectrum disorder patients.


2020 ◽  
Vol 3 (3) ◽  
pp. 297-310 ◽  
Author(s):  
Rafael Ricafranca Castillo ◽  
Gino Rei A. Quizon ◽  
Mario Joselito M. Juco ◽  
Arthur Dessi E. Roman ◽  
Donnah G De Leon ◽  
...  

 Treatment for coronavirus disease 2019 (COVID19) pneumonia remains empirical and the search for therapies that can improve outcomes continues. Melatonin has been shown to have anti-inflammatory, antioxidant, and immune-modulating effects that may address key pathophysiologic mechanisms in the development and progression of acute respiratory distress syndrome (ARDS), which has been implicated as the likely cause of death in COVID19. We aimed to describe the observable clinical outcomes and tolerability of high-dose melatonin (hdM) given as adjuvant therapy in patients admitted with COVID19 pneumonia. We conducted a retrospective descriptive case series of patients who: 1) were admitted to the Manila Doctors Hospital in Manila, Philippines, between March 5, 2020 and April 4, 2020; 2) presented with history of typical symptoms (fever, cough, sore throat, loss of smell and/or taste, myalgia, fatigue); 3) had admitting impression of atypical pneumonia; 4) had history and chest imaging findings highly suggestive of COVID19 pneumonia, and, 5) were given hdM as adjuvant therapy, in addition to standard and/or empirical therapy. One patient admitted to another hospital, who one of the authors helped co-manage, was included. He was the lone patient given hdM in that hospital during the treatment period. Main outcomes described were: time to clinical improvement, duration of hospital stay from hdM initiation, need for mechanical ventilation (MV) prior to cardiopulmonary resuscitation, and final outcome (death or recovery/discharge). Of 10 patients given hdM at doses of 36-72mg/day per os (p.o.) in 4 divided doses as adjuvant therapy, 7 were confirmed COVID19 positive (+) by reverse transcription polymerase chain reaction (RT-PCR) and 3 tested negative  (-), which was deemed to be false (-) considering the patients’ typical history, symptomatology, chest imaging findings and elevated bio-inflammatory parameters.  In all 10 patients given hdM, clinical stabilization and/or improvement was noted within 4-5 days after initiation of hdM. All hdM patients, including 3 with moderately severe ARDS and 1 with mild ARDS, survived; none required MV. The 7 COVID19(+) patients were discharged at an average of 8.6 days after initiation of hdM. The 3 highly probable COVID19 patients on hdM were discharged at an average of 7.3 days after hdM initiation. Average hospital stay of those not given hdM (non-hdM) COVID19(+) patients who were admitted during the same period and recovered was 13 days. To provide perspective, although the groups are not comparable, 12 of the 34 (35.3%) COVID19(+) non-hdM patients admitted during the same period died, 7/34 (20.6%) required MV; while 6 of 15 (40%) non-hdM (-) by RT-PCR but highly probable COVID19 pneumonia patients also died, 4/15  (26.7%) required MV. No significant side-effects were noted with hdM except for sleepiness, which was deemed favorable by all patients, most of whom had anxiety- and symptom-related sleeping problems previously. HdM may have a beneficial role in patients treated for COVID19 pneumonia, in terms of shorter time to clinical improvement, less need for MV, shorter hospital stay, and possibly lower mortality. HdM was well tolerated. This is the first report describing the benefits of hdM in patients being treated for COVID19 pneumonia.  Being a commonly available and inexpensive sleep-aid supplement worldwide, melatonin may play a role as adjuvant therapy in the global war against COVID19. 


2020 ◽  
Vol 26 (1) ◽  
pp. 31-36
Author(s):  
Md Zakaria Sarkar ◽  
AHM Ferdows Nur ◽  
Utpal Kumar Dutta ◽  
Muhammad Rafiqul Islam ◽  
Debabrota Roy ◽  
...  

Objective: The aim of this study was to evaluate hearing outcome after stapedotomy in patients with Otosclerosis. Methods: This cross sectional study was carried out from July 2017 to January 2019 in National Institute of ENT, Unit V. About 22 patients with Otosclerosis were included in this study. Diagnosis of Otosclerosis was based on the history, medical status with Otoscopy, Tuning fork tests and Audiometric tests. We compiled data on the pre and post operative air-bone gap (ABG) at 0.5, 1, 2 KHZ. The ABG was Calculated using AC and BC thresholds on the same audiogram. Post operative hearing gain was then Calculated from the ABG before the operation minus the ABG of the last follow up examination Results: In this study most of the cases were age group 14-30 years (72.7%), female (54.5%). Most common symptoms was progressive hearing loss, tinnitus (77.8%).The average preoperative hearing loss in this study was (AC) was 48.31±7.68. The average post opt. hearing (AC) at follow up was 28.95±10.30 with an average hearing gain of 15.40±8.53 dB which was significant. The average pre-operative ABG was 28.99 dB ± 8.10. The average post opt. ABG was analyzed at 1 follow up showed ABG 13.18±8.09 dB which was found to be significant. Conclusion: Stapedotomy is an effective surgical procedure for the treatment of otosclerosis which leads to improvement in patient’s quality of life. A favorable hearing outcome can be obtained by the combination of experienced hands with minimal surgical trauma and appropriate surgical technique. Bangladesh J Otorhinolaryngol; April 2020; 26(1): 31-36


2021 ◽  
pp. 1-21
Author(s):  
Antonio Atalaia ◽  
Rabah Ben Yaou ◽  
Karim Wahbi ◽  
Annachiara De Sandre-Giovannoli ◽  
Corinne Vigouroux ◽  
...  

Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported. Linking gene and variants with phenotypic expression, disease mechanisms, and corresponding treatments is particularly challenging in laminopathies. Treatment recommendations are limited, and very few are variant-based. Objective: The Treatabolome initiative aims to provide a shareable dataset of existing variant-specific treatment for rare diseases within the Solve-RD EU project. As part of this project, we gathered evidence of specific treatments for laminopathies via a systematic literature review adopting the FAIR (Findable, Accessible, Interoperable, and Reusable) guidelines for scientific data production. Methods: Treatments for LMNA-related conditions were systematically collected from MEDLINE and Embase bibliographic databases and clinical trial registries (Cochrane Central Registry of Controlled Trials, clinicaltrial.gov and EudraCT). Two investigators extracted and analyzed the literature data independently. The included papers were assessed using the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. Results: From the 4783 selected articles by a systematic approach, we identified 78 papers for our final analysis that corresponded to the profile of data defined in the inclusion and exclusion criteria. These papers include 2 guidelines/consensus papers, 4 meta-analyses, 14 single-arm trials, 15 case series, 13 cohort studies, 21 case reports, 8 expert reviews and 1 expert opinion. The treatments were summarized electronically according to significant phenome-genome associations. The specificity of treatments according to the different laminopathic phenotypical presentations is variable. Conclusions: We have extracted Treatabolome-worthy treatment recommendations for patients with different forms of laminopathies based on significant phenome-genome parings. This dataset will be available on the Treatabolome website and, through interoperability, on genetic diagnosis and treatment support tools like the RD-Connect’s Genome Phenome Analysis Platform.


2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii324-iii324
Author(s):  
Derek Hanson ◽  
Nicolas Andre ◽  
Susan Chi ◽  
Mariella Filbin ◽  
Michael Fisher ◽  
...  

Abstract Embryonal tumors with multilayer rosettes (ETMR) are rare and highly-aggressive central nervous system (CNS) neoplasms which occur primarily in young children and carry a dismal prognosis. To date, no large clinical investigations have been conducted to determine the optimal therapy for ETMR. Data from retrospective case series suggest that our most aggressive standard therapies are not sufficient for cure in the majority of cases. New treatment approaches incorporating pre-clinical data and the known biology of ETMR are therefore urgently needed. A German drug screen using the patient-derived ETMR BT183 cell line and its xenograft revealed anti-tumor activity of topotecan, doxorubicin, and actinomycin D; three agents used infrequently for treating infant CNS tumors. Additional results from a small series of ETMR patients suggest that optimization of induction chemotherapy using these active agents may improve response and survival outcomes. In 2019, an international panel of pediatric neuro-oncology experts convened to advance therapy for ETMR. A consensus protocol was developed incorporating maximal safe surgical resection, induction chemotherapy with active pre-clinical agents, intrathecal chemotherapy, radiotherapy, and high-dose chemotherapy. This international consensus protocol represents the first prospective clinical investigation specific to ETMR and will be available through a treatment registry globally and as a clinical trial at select centers. The study aims to improve survival by providing aggressive, optimized therapy for ETMR and will serve as a platform to explore new biologically-promising agents. The investigation will also provide valuable prospective outcome data and correlative biological studies to serve as baseline comparators for future clinical trials.


2019 ◽  
Vol 21 (2) ◽  
pp. 119-123
Author(s):  
Marcos J Las Heras ◽  
Jose Dianti ◽  
Manuel Tisminetzky ◽  
Graciela Svetliza ◽  
Sergio E Giannasi ◽  
...  

Rationale Acute hypoxemic respiratory failure is a condition that comprises a wide array of entities. Obtaining a histological lung sample might help reach a diagnosis and direct an appropriate treatment in a select group of patients. Objective To describe our experience in the use of cryobiopsy for the diagnosis of acute hypoxemic respiratory failure of undetermined origin. Methods Retrospective analysis of case series of patients with acute hypoxemic respiratory failure who underwent lung cryobiopsy at the Intensive Care Unit of the Hospital Italiano de Buenos Aires, Argentina. Results Cryobiopsy yielded a histological diagnosis in all patients ( n = 10, 100%). This led to either a change in therapy or continuation of a specific treatment in eight of these patients. Cryobiopsy was found to be contributive in all the patients who did not meet Berlin criteria for acute respiratory distress syndrome. No major complications were associated with the procedure. Conclusions Cryobiopsy is a safe procedure with a high diagnostic yield in a selected group of patients.


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