eLetters

55 e-Letters

published between 2020 and 2023

  • In response to: It is important to check nails, fingers, palms, planters, conjunctivae, oral mucosa, and optic fundi.

    Regarding the question raised by Dr. Yasuharu Tokuda, Consultant Physician; as rightly pointed out by Dr. Tokuda it is important to look for peripheral signs of IE. We did look for these signs but could not find any. Besides, though many peripheral signs are described in IE, the actual incidence is very low.

    Sincerely,
    Dr. Ittyachen.
     

  • It is important to check nails, fingers, palms, planters, conjunctivae, oral mucosa, and optic fundi.

    The diagnostic excellence of infective endocarditis (IE) requires careful physical examination. In the current case reported by Ittyachen et al, a diagnosis of IE was made on Day 6 of hospitalization. However, no visualization of vegetation by transthoracic echocardiography, especially on Day 1, is common because of its low sensitivity (1). Patients with acute heart failure along with mitral regurgitation need rapid diagnostic evaluation for possibility of IE.

    There were no documentation for physical findings as important signs of IE except cardiac murmur and oral hygiene. The accurate diagnosis based on physical diagnosis might have been achieved earlier if a high index of suspicion for IE with careful examination had been considered. I always recommend checking nails, fingers, palms, planters, conjunctivae, oral mucosa, and optic fundi in suspected cases of IE. The list to search should include splinter hemorrhage, Osler node, Janeway purpura, mucosal petechiae, and Roth spot (2).

    Yasuharu Tokuda, MD MPH
    Consultant Physician and Director
    Muribushi Okinawa Center for Teaching Hospitals, Urasoe City, Okinawa, Japan.

    References

    (1) Baddour LM, et al; American Heart Association Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease of the Council on Cardiovascular Disease in the Young, Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and Stroke Council. Infective Endocarditis in Adults: Diagn...

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  • A field level reality
    Sandeep Bhattacharya

    I am impressed by the straight forward write up with giving emphasis on practical aspects in field.

    Conflict of Interest:

    None declared

  • Tetanus-induced rhythmic seizures mimicking the clinical and electroencephalographic presentation of status epilepticus

    I read this paper with great interest and congratulate the authors on consideration of tetanus in this case. I would point out that the EEG in Figure 1 was recorded with a low pass filter of 30 Hz, which could make EMG artifact look like the fast activity labeled as wicket spikes. If the raw EEG data are still available, examination at a low pass filter of 70 Hz would resolve the issue.

    Tetanus does not in and of itself alter consciousness, so one might infer that she had suffered hypoxia during her spasms to cause her coma on presentation, which likely led to the idea that this was status epilepticus. Her eventual cognitive recovery attests to the skill and persistence of her medial team.

    Culturing C. tetanii from a wound does not prove the diagnosis of tetanus, as the spores are ubiquitous, and only antitetanus antibodies from vaccination prevent the disease. However, I have no doubt about the diagnosis on clinical grounds. Did she receive tetanus toxoid in addition to human tetanus immune globulin? There are unfortunately cases of recurrent tetanus if active immunization is not pursued.

    Ref: Birch TB, Bleck TP. Tetanus (Clostridium tetani). In Bennett JE, Dolin R, Blaser MJ (eds), Mandell, Douglas, and Bennett’s Principles and practice of infectious diseases (ed 9). Philadelphia: Elsevier, 2020, pp. 2948 – 2953.

  • Misguided case study

    Exogenous anabolic steroids are not a direct causative factor of glucocorticoid excess as stated by the authors. Although the phenotypes of injury (i.e., collagen infiltration, fibrosis, lowered ejection fraction via LVH) are similar as mentioned per Youssef et al. (2011), the primary evidence (reference #1; Delivanis et al., 2020) used to claim that glucocorticoid excess results from AAS does not mention exogenous androgen derivatives (AAS) anywhere in the entire Chapter 15. Let us not forget the AAS are androgens, not mineralocorticoids. Endogenous androgen increases (or excess) from pathological disorders were the only androgens mentioned in Delivanis et al. (2020) and the only citations (Delivanis et al., 2020; #189-191) in this primary cited evidence, in no manner, shape, or form, supports the inclusion of AAS to make an extrapolation that glucocorticoid resistance results from exogenous androgens (AAS) but only that glucocorticoid resistance can result from excess endogenous androgens due to various pathologies.

    Using high-index value topics like anabolic-androgenic steroids to support a case report that does not involve AAS, seems to be more of either ignorance of the AAS literature or misinterpretation of endogenous androgen excess and exogenous androgen abuse.

    The case does draw nice parallels between the phenotypes of injury (cortisol excess) and anabolic-androgenic steroid abuse, particularly activation of the RAAS. However, Youssef et al. (2011)...

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  • 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

    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 responsible for ataxia apart from being a carrier for Fr...

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  • Not Visceral, but Localized Leishmanial Lymphadenopathy

    Dear Editor:
    We have read with interest this case, but we do not agree with the authors about considering this case as a visceral leishmaniasis (VL). This is a typical case of localized leishmanial Lymphadenopathy (LLL), as we and others described in several series of cases (1,2). This not-well known form of presentation of leishmaniasis is more common in Middle-East region, caused by dermatotropic strains like L. tropica or L. major, but isolated cases are described in Mediterranean region caused by L. infantum, as probably this case.
    In last decade, we suffered in Southern urban cities of Madrid, mainly Fuenlabrada, an important outbreak of leishmaniasis. More than 1000 cases of leishmaniasis were reported, and we could describe several cases of LLL (2).
    LLL is a form of presentation of leishmaniasis in patients without cellular immunosuppression, which presented with lymphadenopathy as the only form of presentation, and without systemic manifestations (no fever, no splenomegaly, no kytopenias, and normal acute phase reactants). Some LLL patients can refer lesions of cutaneous leishmaniasis (CL) near the adenopathy that had been previously spontaneously resolved or not, showing adenopathies as a local inflammatory rather than a systemic disease. Median duration of the adenopathy was 3 months in our patients. None of these patients, some of them without treatment, progressed to VL.
    We think it is important to distinguish LLL from VL because of crit...

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  • Burden of organdonation after euthanasia: better exclude it than reduce it

    Maes et al suggest that the burden of organdonation related issues in organdonation after euthanasia (ODE) patients is well tolerable or may even be neglegible. They present two cases with untreatable psychiatric disorders who requested for euthanasia and expressed their deathwish to combine with postmortal organdonation. The burden relates to the patient, his family and the professionals involved in euthanasia. They propose that all psychiatric patients whom euthanasia is granted should be informed about the possibility of postmortal organ donation(1).
    First, we state that the burden can even be minimized further: it is not necessary for the patient to have his euthanasia performed in the hospital. These patients can be given the sense of dying at home and transported thereafter using an anesthesia bridge to the hospital, as we have shown to be feasible(2).
    Second, it is not fair to use the experience of these two evident highly for ODE motivated psychiatric patients and their families as a reference for comparable euthanasia patients who are unaware of the option of post mortal organdonation.
    But third, of perimount importance, we criticize the opinion that the amount of burden for ODE patients may reach a point to be neglegible. In our opinion this burden should not be minimized, but excluded. The suggestions of Maes et al are motivated by utilistic ethical considerations and the existence of waitinglists for transplantation. The act of organdonation h...

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  • 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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  • 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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