BACKGROUND: Charcot-Marie-Tooth is the most common inherited neuromuscular disorder. Rarely, it can be associated with heart failure and various arrhythmic disturbances. This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease. CASE SUMMARY: A 69-year-old male with a history of Type 1A Charcot-Marie-Tooth disease was admitted due to repetitive runs of ventricular tachycardia. Twelve-lead electrocardiogram, echocardiography, selective coronary angiography, and cardiac magnetic resonance did not clarify the cause of the electrical storm. As conservative therapy was not successful, radiofrequency ablation was chosen to treat the electrical storm. After this procedure, implantable cardioverter defibrillator (ICD) was implanted. The follow-up revealed severe perforation by the ventricular lead. An extraction was performed with no complications and a new lead was immediately implanted. The patient remains asymptomatic. Three episodes of non-sustained ventricular tachycardia were recorded during the last follow-up. DISCUSSION: This case illustrates the challenges of making decisions to prevent sudden cardiac death in a patient with Charcot-Marie-Tooth disease after successful ablation for electrical storm. Due to a lack of evidence, atypical origin of arrhythmia, and clinical presentation, we did not consider this as idiopathic arrhythmia and decided to implant an ICD, which was complicated by severe perforation by the lead. Specific recommendations for preventing sudden cardiac death in rare cardiac conditions, such as Charcot-Marie-Tooth disease, still need to be refined.
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Brucellosis is a zoonosis with non-specific clinical symptoms involving multiple systems and organs. Its prevalence is low in most of EU countries, which can lead to the difficulties in laboratory and clinical diagnostic. Due to its relationship to the Ochrobactrum spp., it may be misclassified in rapid identification systems. We present a case of a 13-year-old immunocompetent girl who was examined several times for fever, fatigue, night sweats and weight loss; laboratory results showed mildly elevated C-reactive protein, anaemia and leukopenia. Four weeks before the onset of symptoms, she had been on a family holiday in Egypt. Given her symptoms, a haemato-oncological or autoimmune disease was considered more likely. The diagnosis of Brucella spondylitis was made after 4 months. The main reasons for this delay were as follows: low specificity of clinical symptoms, delay in completing the travel history, inconclusive initial serological results and misidentification of the blood culture isolate as Ochrobactrum sp. Even in countries with a low incidence of brucellosis, it is essential to educate healthcare professionals about the disease. Low specificity of symptoms and limited experience of laboratory staff may lead to late diagnosis with risk of complications and poor outcome. If Ochrobactrum spp. is detected in clinical specimens by rapid identification, careful re-evaluation must follow and all measures to prevent laboratory-acquired infections must be taken until Brucella spp. is unequivocally excluded.
- MeSH
- bakteriemie * diagnóza mikrobiologie MeSH
- Brucella izolace a purifikace klasifikace MeSH
- brucelóza * diagnóza mikrobiologie MeSH
- chybná diagnóza * MeSH
- gramnegativní bakteriální infekce diagnóza mikrobiologie MeSH
- horečka * mikrobiologie etiologie MeSH
- lidé MeSH
- mladiství MeSH
- Ochrobactrum * genetika izolace a purifikace MeSH
- spondylitida mikrobiologie diagnóza MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Geografické názvy
- Egypt MeSH
Papillary thyroid carcinoma (PTC) represents ~80% of all thyroid cancers, most frequently presenting in women in the third and fourth decade of life. The first clinical manifestation of PTC commonly includes a palpable mass in the thyroid area or cervical lymphadenopathy in cases of metastatic disease. Hematogenous distant metastases are a sign of an advanced stage of the tumour. The present study reported an extremely rare occurrence of solitary metastasis of a PTC in the left breast of a 63-year-old male patient, mimicking primary male breast cancer (MBC). The presence of a male breast lesion that did not follow the typical imaging criteria for MBC aroused suspicion of a different primary origin. The combination of imaging methods, laboratory findings and fine-needle aspiration techniques enabling cytological and histopathological examination, with the use of a wide panel of immunohistochemical markers, is crucial to establishing a definitive and correct diagnosis.
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
In 2019, Pantoea piersonii was initially isolated from the interior surfaces of the International Space Station. This microorganism is a species within the genus Pantoea in the family Erwiniaceae, belonging to the order Enterobacterales. Recent literature has documented four cases of its isolation. Despite initial predictions suggesting the non-pathogenicity of P. piersonii strains, evidence from observed cases indicates potential pathogenicity. According to documented evidence in the literature, this microorganism is capable of causing severe and life-threatening conditions, including sepsis. Traditional tests, as well as automated systems, may fail to provide complete differentiation due to these similarities. While MALDI-TOF MS is a valuable tool for identification in clinical diagnostic microbiology, sequencing may be necessary for precise identification. To determine the antibiotic susceptibility profile, various methods can be utilized, including minimum inhibitory concentration determination, disk diffusion testing (Kirby-Bauer test), genotypic resistance assays (PCR and sequencing), and automated systems. The literature reports a limited number of cases associating P. piersonii with human infection. This study contributes to this body of knowledge by reporting a novel case in which P. piersonii was isolated from a tissue sample for the first time. In this case report, the patient achieved recovery following the administration of appropriate antibiotic treatment based on the diagnosis. It underscores the need for precise identification and understanding of its pathogenicity.
- MeSH
- antibakteriální látky * farmakologie terapeutické užití MeSH
- enterobakteriální infekce * mikrobiologie diagnóza farmakoterapie MeSH
- lidé MeSH
- mikrobiální testy citlivosti * MeSH
- Pantoea * izolace a purifikace genetika patogenita MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Five cases of patients with systemic connective tissue diseases (CTD) who developed connective tissue disease-associated interstitial lung disease (CTD-ILD) with progressive pulmonary fibrosis (PPF) are reported here. Unspecified ILD was diagnosed using high-resolution computed tomography (HRCT). Histologically, all cases were usual interstitial pneumonia (UIP) with findings of advanced (3/5) to diffuse (2/5) fibrosis, with a partially (4/5) to completely (1/5) formed image of a honeycomb lung. The fibrosis itself spread subpleurally and periseptally to more central parts (2/5) of the lung, around the alveolar ducts (2/5), or even without predisposition (1/5). Simultaneously, there was architectural reconstruction based on the mutual fusion of fibrosis without compression of the surrounding lung parenchyma (1/5), or with its compression (4/5). The whole process was accompanied by multifocal (1/5), dispersed (2/5), or organized inflammation in aggregates and lymphoid follicles (2/5). As a result of continuous fibroproduction and maturation of the connective tissue, the alveolar septa thickened, delimiting groups of alveoli that merged into air bullae. Few indistinctly visible (2/5), few clearly visible (1/5), multiple indistinctly visible (1/5), and multiple clearly visible (1/5) fibroblastic foci were present. Among the concomitant changes, areas of emphysema, bronchioloectasia, and bronchiectasis, as well as bronchial and vessel wall hypertrophy, and mucostasis in the alveoli and edema were observed. The differences in the histological appearance of usual interstitial pneumonia associated with systemic connective tissue diseases (CTD-UIP) versus the pattern associated with idiopathic pulmonary fibrosis (IPF-UIP) are discussed here. The main differences lie in spreading lung fibrosis, architectural lung remodeling, fibroblastic foci, and inflammatory infiltrates.
- MeSH
- dospělí MeSH
- idiopatická plicní fibróza patologie komplikace MeSH
- intersticiální plicní nemoci * patologie komplikace MeSH
- lidé středního věku MeSH
- lidé MeSH
- nemoci pojiva * patologie komplikace MeSH
- plíce patologie diagnostické zobrazování MeSH
- počítačová rentgenová tomografie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Lipoblastoma, a rare benign tumor composed of immature fat cells, typically arises in the first 3 years of life. Although commonly found in the extremities and trunk, occurrences on the scalp are exceedingly rare. We present a case report of a lipoblastoma located on the scalp of a 5-year-old female patient. The patient presented with a painless, gradually enlarging mass over a 6-month period. Clinical and radiological evaluation confirmed the presence of a well-defined, lobulated lesion with adipose density. Surgical excision was performed, and histopathologic examination revealed characteristic features of lipoblastoma, including lipoblast-like cells and lobules of adipose tissue, separated by fibrous connective tissue septae of varying thickness surrounded by a fibrocartilaginous capsule. To our knowledge, this is the fourth documented case of lipoblastoma originating in the scalp region in a pediatric patient. Given the rarity of lipoblastoma in this location, this case highlights the importance of considering lipoblastoma as a differential diagnosis when evaluating scalp masses in children. Awareness of atypical presentations and histopathologic features can aid in accurate diagnosis and appropriate management, which usually involves complete surgical resection. Further studies are warranted to explore the genetic and molecular underpinnings of these unique cases, contributing to a better understanding of the pathogenesis of lipoblastomas in various anatomical sites.
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Cieľ: Predstaviť prípad pacientky, u ktorej sa rozvinul akútny Sheehanov syndróm, napriek primeranej odhadovanej krvnej strate. Kazuistika: Sheehanov syndróm je pomerne vzácne ochorenie s varírujúcou incidenciou, najmä na vrub odlišnej pôrodníckej starostlivosti v jednotlivých krajinách. Patogenetický mechanizmus nie je plne objasnený, hlavným faktorom je zníženie prietoku hypofyzárnymi artériami v rámci náhle vzniknutej hypotenzie po pôrode s väčšou krvnou stratou. Následné klinické prejavy závisia od rozsahu poškodenia hypofýzy a teda deficitu jednotlivých hormónov, sekréciu ktorých hypofýza riadi. Väčšina pacientok je diagnostikovaná až po rokoch. Náš prípad popisuje pacientku so Sheehanovým syndrómom, ktorý sa rozvinul v skorom popôrodnom období. Pacientka bola úspešne diagnostikovaná a nastavená na adekvátnu substitučnú terapiu. Záver: Rozvoj akútneho Sheehanovho syndrómu je ojedinelý. Napriek raritnosti, treba naň myslieť v prípade pacientky, ktorá popisuje agalakciu, amenoreu, únavu a iné nešpecifické prejavy.
Objective: To present a case of a patient who developed acute Sheehan’s syndrome, despite adequate estimated blood loss. Case report: Sheehan’s syndrome is a relatively rare disease with various incidences, mainly due to different obstetric care factors in individual countries. Pathogenetic mechanisms are not fully understood. An important factor is reduced blood flow through the pituitary arteries caused by hypotension in the setting of postpartum hemorrhage. Subsequent clinical manifestations depend on the extent of damage to the pituitary gland, and consequently, on the loss of individual hormones, the secretion of which is controlled by the pituitary gland. Most patients are diagnosed years later. Our case describes a patient with Sheehan’s syndrome that developed in the early postpartum period. The patient was successfully diagnosed and adequate replacement therapy was started. Conclusion: In summary, acute Sheehan’s syndrome is a rare occurrence. Agalactia, amenorrhea, fatigue, and other non-specific symptoms should be considered despite its rarity.
Heteropágy alebo parazitické zrastené dvojčatá predstavujú extrémne zriedkavú anomáliu, ktorá sa vyskytuje približne v 1 z 1 milióna prípadov. Sú charakterizované prítomnosťou parazitického dvojčaťa s významnou vrodenou abnormalitou, pripojeného k zvyčajne inak zdravému plodu. Dobre vyvinuté dvojča je známe ako „autosite“ alebo „hostiteľ“, zatiaľ čo ťažko postihnutý plod sa nazýva „parazit“. Prežitie defektného dvojčaťa závisí od kardiovaskulárneho systému druhého, relatívne normálneho plodu. Predstavujeme prípad 27-ročnej primigravidy v 14. týždni gravidity s ultrazvukovým nálezom poukazujúcim na parazitické zrastené dvojčatá, omfalopágy.
Heteropagus or parasitic conjoined twins represent an extremely rare anomaly, occurring in approximately 1 in 1 million cases. This condition is characterized by the presence of a parasitic twin with significant congenital abnormalities attached to an otherwise typically healthy fetus. The well-developed twin is known as the “autosite” or “host,” while the severely affected fetus is termed the “parasite.” Survival of the defective twin depends on the cardiovascular system of the second, relatively normal fetus. We present the case of a 27-year-old primigravida in her 14th week of pregnancy with ultrasound findings indicating parasitic conjoined twins, specifically omphalopagus.
- MeSH
- dospělí MeSH
- fetus in fetu * diagnóza MeSH
- komplikace těhotenství MeSH
- lidé MeSH
- monstra duplicia * MeSH
- prenatální diagnóza MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Torze dělohy je pro svou ojedinělost velmi nebezpečná komplikace těhotenství a porodu, často opomíjená, a může v některých případech ohrozit na životě jak rodičku, tak i její dítě. V našem případě bylo termínové těhotenství ukončeno akutním císařským řezem kvůli podezření na HELLP syndrom s peroperačním nálezem torze dělohy o 120°. Děloha byla derotována a zbytek operace byl proveden dle standardního postupu. Následky vzniklého stavu tak byly pro rodičku a její dítě zcela minimální a pooperační stav stabilní a nekomplikovaný. Zařazením i této raritní komplikace do diferenciální diagnostiky akutně vzniklých obtíží s bolestmi epigastria a zvracením v těhotenství můžeme včasně zabránit někdy až fatálním komplikacím pro matku i dítě.
Uterine torsion belongs to one of the most dangerous labor complications also because of its rarity. As it is not common for an obstetrician to come across this state, it is usually not at the very top of the differential diagnostics list when solving acute child delivery complications. However, it is serious enough to pose a lethal threat to both mother and child. In this case, the term gravidity was ended by acute cesarean section because of HELLP syndrome. During the operation, as well as after a complicated delivery and hysterotomy suture uterine torsion of 120 degrees to the right, the patient was diagnosed with detorsion. The rest of the operation was done according to normal standards. Thanks to this very prompt procedure, the aftermath of the described state meant little to no harm to the mother and her child. This case study should highlight the importance of including uterine torsion into differential diagnostics of acute abdominal pain and vomiting to prevent fatal labor complications for the mother and her child.
- Klíčová slova
- torze dělohy,
- MeSH
- císařský řez MeSH
- dospělí MeSH
- HELLP syndrom * patofyziologie MeSH
- komplikace těhotenství * MeSH
- lidé MeSH
- těhotenství MeSH
- uterus patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Tato kazuistika popisuje případ totální atrioventrikulární blokády (TAVB) s pozitivními anti-Ro/SSA protilátkami u transgender muže, který byl sledován ve 31. týdnu a 3. dni gestace. Navzdory mnoha neshodám ohledně tohoto pacienta byly doporučeny kortikosteroidy. Komorová frekvence plodu při druhé týdenní návštěvě byla 50 tepů/min a ke zvýšení srdeční frekvence bylo zahájeno podávání terbulinu. Pro lepší kontrolu mateřských symptomů a sledování vitálních funkcí plodu bylo přikročeno k hospitalizaci a nitrožilnímu podání terbutalinu po dobu 3 dnů a rovněž ke každodennímu monitorování komorové frekvence. Došlo ke zvýšení výchozí komorové frekvence přibližně o 15 %. Po propuštění z nemocnice byla navíc k indexům navrženým Huhtou pro echokardiografické hodnocení srdeční funkce plodu prováděna týdenní kontrolní echokardiografie plodu. Fetální komorová frekvence u ambulantních kontrol neklesla na < 55 tepů/min. Císařský řez byl indikován ve 35. týdnu a 4. dni gestace z důvodu předčasné ruptury ovulárních membrán. Byl porozen novorozenec mužského pohlaví o hmotnosti 2 250 g s Apgar skóre 8 v 1. minutě a 9 v 5. minutě. Po 88 dnech života kojenec vážil 4 580 g a bez komplikací mu byl implantován trvalý dvoukomorový epikardiální kardiostimulátor. Kardiostimulátor je indikován i v případě, že při použití terbutalinu dojde k přechodnému zvýšení komorové frekvence plodu. Porod by měl proběhnout v termínu, aby plod mohl dosáhnout adekvátní hmotnosti a plicní zralosti pro implantaci trvalého kardiostimulátoru.
This case report describes a case of total atrioventricular block (TAVB) with positive anti-Ro/SSA antibodies in a transgender man who began follow-up at 31 weeks and 3 days of gestation. Despite many disagreements regarding treatment, corticosteroids were recommended for this patient. The fetal ventricular rate at the second weekly visit was 50 bpm and terbulin was started to increase heart rate. Hospitalization and intravenous terbutaline for 3 days was chosen to better control maternal symptoms and monitor fetal vital signs, as well as daily monitoring of the ventricular rate. There was an increase in baseline ventricular rate of approximately 15%. After discharge from the hospital, weekly control fetal echocardiography was performed in addition to the indices proposed by Huhta for echocardiographic assessment of fetal cardiac function. Fetal ventricular rate in ambulatory controls did not fall below 55 bpm. Cesarean section was indicated at 35 weeks and 4 days of gestation due to premature rupture of ovular membranes. A male newborn was delivered weighing 2,250 grams with Apgar scores of 8 and 9 at the 1st and 5th minute, respectively. After 88 days of life, the infant was weighing 4,580 grams and a definitive bicameral epicardial pacemaker was implanted without complications. Even if there is a transient increase in fetal ventricular rate with the use of terbutaline, a pacemaker is indicated. Delivery should be at term to allow the fetus to achieve adequate weight and pulmonary maturity for definitive pacemaker implantation.
- MeSH
- atrioventrikulární blokáda * diagnóza MeSH
- císařský řez MeSH
- lidé MeSH
- prenatální diagnóza MeSH
- systémový lupus erythematodes diagnóza MeSH
- těhotenství MeSH
- terbutalin terapeutické užití MeSH
- transgender osoby MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- těhotenství MeSH
- Publikační typ
- kazuistiky MeSH
