eLetters

335 e-Letters

  • Ref: bcr-2021-242073.R2 - Very Late Onset Friedreich’s Ataxia with rapid course mimicking as Possible Multiple System Atrophy Cerebellar Type. Rapid Response from Dr. Stefan M. Pulst, Professor & Chair, Neurology, University of Utah

    Response from Tushar Vidhale, MD (Dated: July 8th, 2022)

    Respected Editor and Dr. Pulst,
    Thank you for your interest in our case. We agree with your comment that Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by bi-allelic expansion of an intronic GAA repeat in the frataxin (FXN) gene, but our patient had eight GAA repeats on allele-1 and 37 repeats (pre-mutated allele) on allele-2. The pre-mutated allele can be responsible for the disease, in
    rare cases, by causing somatic expansion or pre-mutation in cell populations. But this occurs only when in the setting of the second allele in the clear pathogenic range of expansion. This intronic GAA expansion further silences the FXN gene, resulting in pathologically suppressed levels of the frataxin protein. As per the respected reader, even though the patient had the probability of compound
    heterozygous mutation with a pathogenic point mutation in one allele, the second allele would not be pathogenic at 37 GAA repeats.

    Usually, individuals with ataxia who are heterozygous for an expanded GAA repeat (> 66) may contain a separate loss-of-function mutation in the FXN gene copy over the allele with normal GAA repeat length. In the relevant clinical context, these patients should be considered to have Friedreich ataxia. [1] However, in populations where the prevalence of Friedreich ataxia carriers is high, such an individual may have a different disorder respon...

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  • A supporting case for this profound presentation

    Jiang presents a very interesting and unique case of bilateral corneal decompensation in a patient with COVID pneumonitis. We would like to offer a similar case to support their hypothesis of viral endotheliitis. These cases demonstrate an ocular manifestation of COVID-19 infection which was previously unknown. This manifestation is important to be aware of as the subsequent visual impairment may be profound, though likely amenable to treatment.

    Jiang pointed out the unclear onset for their case and possible delayed presentation from 34 days of ventilation. While we cannot assume the onset time of Jiang’s patient, our patient provides an interesting comparison. Our case describes a male patient who developed significant and painless overnight vision loss. He had gone to bed with only cough as a symptom of COVID infection and awoke to find himself only able to perceive light and gross motion. This patient presented to our local accident and emergency department with this sudden and profound bilateral loss of vision. He required admission due to his inability to self-care.

    On examination the patient was found to have significant bilateral corneal oedema. Both eyes were white with no evidence of local infection, inflammation, or ocular surface trauma. There was no epithelial uptake with fluorescein in either eye. Intraocular pressure was within normal limits and symmetrical. No corneal dystrophy could be seen with biomicroscopy. The patient was started on topi...

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  • Prof

    Dear Sir/Madam.

    Thanks for your interest in our case report and the literature review on CeAD and spinal manipulation, which is the most important element of patient care.
    All clinicians would like to have a positive outcome for their patients using evidence-based practice.
    Unfortunately, the patient in this case had a near fatal outcome by a chiropractor practising in a major metropolitan region of China. The chiropractor is a graduate of a traditional Chinese medical university. The patient could only recall heavy massage and possibly using an equipment (activator? we did not put in the paper because of the uncertainty).
    The side effect with this mode of chiropractor treatment is extremely rare as what we have reviewed. This mode of treatment can certainly be the risk factors for the outcome (we ruled out most of the other risk factors presented in our case). We are sharing this case purely for education purpose without the intention of criticising any individual and the chiropractor profession. We did not want to see any more similar cases with an almost fatal outcome. We do appreciate that the whole profession of chiropractors constantly reviews their practice to ensure the delivery of evidence-based practice for treatment effectiveness of various aches and pain (shoulder girdle and neck pain in our case), which all health professionals should practice routinely.

    Hope the response helps to clarify the queries.

    kind regards

    ...

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  • Paradoxical reactions in neurotuberculosis – what is the optimal management?

    Sindgikar et al. report a severe paradoxical reaction in a 15-year-old HIV-uninfected patient with stage III tuberculous meningitis, during her fifth month of treatment. After improving with re-initiation of corticosteroids, the paradoxical reaction worsened after the prednisolone was weaned over 8 weeks. The patient continued 4 months of corticosteroids in addition to 13 months anti-TB treatment (ATT) with significant morbidity at one year follow up, including permanent disability.

    Whilst corticosteroids are the mainstay of treatment for paradoxical reactions, their effectiveness for this difficult-to-treat complication has not been assessed in randomised controlled trials (RCT)(1). TNF-alpha is a key cytokine implicated in the exaggerated inflammatory response underlying paradoxical reactions (2,3). We have used infliximab, a monoclonal antibody targeting TNF-alpha, in the management of severe paradoxical reactions in paediatric central nervous system TB with positive outcomes (4,5). Anti-TNFα monoclonal antibodies, including infliximab, have also been used with encouraging results in adults for this indication (6,7). Thalidomide, another anti-TNF-alpha therapy was evaluated in an RCT of children with stage II and III tuberculous meningitis (8), however, this trial was ceased early due to increased deaths and adverse outcomes with a thalidomide dose of 24 mg/kg/day. A subsequent case series of 38 children treated with low-dose thalidomide (3-5 mg/kg) with life-th...

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  • Letter to the Editor regarding “Obstetric rectal laceration in the absence of an anal sphincter injury”

    Dear Editor,

    We read, with interest, “Obstetric rectal laceration in the absence of an anal sphincter injury” by Awomolo et al in your journal [1]. We commend the authors on reviewing this rare injury.

    We appreciate your detailed case report and were pleased to read that your patient recovered well from her injury. We agree that these rare injuries require careful repair with experience, good surgical technique and detailed knowledge of perineal anatomy. Your extensive literature review found other similar cases, many of which we included in our most comprehensive case series [2], but we were surprised to see that our case series was not included in your paper. Although rectal buttonhole tears are rare they are now defined in many National guidelines in the world [3]. What our paper also adds is a standardised approach for repair of isolated rectal tears and follow up, with a video demonstration on a porcine specimen. In addition, we have highlighted that rectal button hole tears can occur concomitantly with a third or 4th degree tear when there is intact bridge of anorectal mucosa between the two injuries.

    We appreciated the insufficiencies in training regarding classification, diagnosis and repair of obstetric anal sphincter injuries (OASIS) over 20 years ago and began the first hands-on course in 2000 (www.perineum.net). We have also introduced the Prevention and Repair Of perineal Trauma Episiotomy through Co...

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  • Misrepresentation of chiropractic in a case of carotid artery dissection

    We read with interest the case report by Yap et al regarding “A near-fatal consequence of chiropractor massage: massive stroke from carotid arterial dissection and vertebral arterial oedema,”(1) which describes a 35-year-old man with a massive stroke purportedly caused by massage. Cerebrovascular disease is an invested topic for manual therapists, considering such providers are responsible for recognizing emergent signs/symptoms of a cervical artery dissection (CeAD) and referring accordingly,(2) however, we are concerned about appropriate and accurate reporting of details of the case including several inconsistencies and evident biases.

    We believe this case report likely misclassifies the treating provider as a chiropractor. The report does not specify the credentials of the person providing massage during the business trip. As pointed out by the authors, there is limited regulation and licensing of chiropractic in China.(3) Furthermore, spinal manipulation is by far the most common treatment intervention provided by chiropractors(4) but the authors did not mention its use in the case presentation.

    We request the authors clarify the credentials of the massage provider, and elaborate on treatment interventions, specifically if cervical spinal manipulation was performed. Previous case reports have misrepresented the treating provider as a chiropractor when describing potential adverse events.(5) This practice is spurious and adds to over-reporting of adverse...

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  • Friedreich ataxia diagnosis

    Dear Madam/Sir,
    We read with great interest the article by Vidhale and colleagues.1 They provide a detailed description of a man presenting with a relatively rapidly progressing neurodegenerative disease including his neuroimaging findings.

    After testing for a few DNA repeat expansion diseases, the authors arrived at the conclusion that their patient’s diagnosis was Friedreich ataxia (FRDA). FRDA is a recessive neurodegenerative disease caused by bi-allelic expansion of an intronic GAA repeat in the frataxin (FXN) gene. Their patient had 5 and 37 GAA repeats. The lower limit for full penetrance alleles is > 66 GAA repeats.2 Thus, it is not apparent how their patient meets diagnostic criteria for FRDA.

    The 37 GAA repeat allele falls at the lower end of premutation alleles (range 34-65), so named as these alleles do not cause disease, but can rarely expand to the disease range during meiosis. In rare cases, somatic expansion of pre-mutations in cell populations has been postulated to cause disease, but this occurs only in the setting of the 2nd allele in the clear pathogenic range of expansion.

    The authors alternatively postulate that the patient could represent a compound heterozygous state based on his clinical presentation. Comparison with cases of very late-onset FRDA (vLOFA), however, clearly shows that the patient’s course is too rapid and severe for vLOFA. Even if the patient were to carry a pathogenic point mutation in one of the allel...

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  • Tasers and Heart Block

    Dear Editor,

    A taser is a weapon used by police in order to provide a safe means of subduing an uncooperative person via an “electric shock”. This handheld device features two small barbed darts designed to puncture the skin. These darts are connected via copper wires to a main unit which delivers an electric current to the individual causing neuromuscular incapacitation by disrupting the voluntary control of muscles(1). A number of studies have raised concern over the health risks of tasers, including ventricular arrhythmias and cardiac arrest(2). Something I have come across during my training was a case of complete heart block provoked by a taser discharge. This phenomenon is not frequently described in the literature.

    The patient in question had cardiac arrest immediately after receiving a discharge from a taser during an altercation with police. Thankfully, he was given bystander CPR and had return of spontaneous circulation after 3 minutes. On presentation to the Emergency Department the patient was found to be in complete heart block. He was admitted acutely to the coronary care unit for monitoring and had a permanent pacemaker inserted three days later.

    The taser is considered a non-lethal weapon but can it truly be considered such?

    Since it is not thought of as a firearm, taser use is not regulated by the Bureau of Alcohol, Tobacco, Firearms and Explosives. The main objective of this article is not to comment on the propriety of taser...

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  • Update

    Active TB globally affects over 10 million people each year and accounts for approximately 1.6 million deaths. Since publishing this case report we since have learned that IGRA blood tests are not entirely useful in diagnosing active TB, as IGRA will also pick up cases of latent TB.
    Presently, the most useful microbiological method of diagnosis is now widely recognised as the Gene Xpert or Gene Xpert MTB/RIF Ultra, a rapid molecular test for Mycobacterium tuberculosis and rifampicin resistance which can be performed on sputum, pleural fluid or CSF. Access to this technology has been widely scaled up in recent years as part of the WHO End TB Strategy and most countries are switching from traditional AFB smears to rapid molecular testing due to reduced costs and demand on laboratory facilities. However, the COVID-19 pandemic has also redirected human, diagnostic and financial resources elsewhere and modelling predicts a regression in TB control and increase in mortality from 13% in 2020 to 20% in 2025.

  • Author's response to e-letter "Therapeutic strategy of Malignant glioma and the fetal-maternal wellbeing”

    Thank you very much for your letter on our published case report of a pregnant woman that was diagnosed with a left parietal glioma in the 28th gestational week after a first generalised seizure, and for your opinion and thorough review of the literature.

    In our patient we performed a two-stage approach with first a tumour resection under general anaesthesia and preservation of the pregnancy and after caesarean section performed in the 37th gestational week an awake craniotomy for resection of residual tumour under neuropsychological monitoring and mapping.

    We decided to do a two-stage approach after a round table where obstetricians, neurosurgeons, anesthetists, neonatologists, and midwives were involved and after several long conversations with the patient and her husband. For the patient clearly the health of her unborn child was the most important aspect of her treatment and therefore she wanted to prolong the pregnancy until term. The tumor of our patient was located with a broad base to the surface and seemed to have a plane to the underlying white matter. There was no, in this location possible eloquent, unaffected cortex overlying the tumor. Moreover, our patient was already in the 28th gestational week of her pregnancy, the uterine fundus was high and the abdomen extended. The use of cortical or subcortical electric stimulation does increase the seizure risk1-4. Because of all these reasons we decided aga...

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