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1.
Acta Paediatr ; 112(5): 1058-1066, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36866956

RESUMO

AIM: This study investigated febrile children with petechial rashes who presented to European emergency departments (EDs) and investigated the role that mechanical causes played in diagnoses. METHODS: Consecutive patients with fever presenting to EDs in 11 European emergency departments in 2017-2018 were enrolled. The cause and focus of infection were identified and a detailed analysis was performed on children with petechial rashes. The results are presented as odds ratios (OR) with 95% confidence intervals (CI). RESULTS: We found that 453/34010 (1.3%) febrile children had petechial rashes. The focus of the infection included sepsis (10/453, 2.2%) and meningitis (14/453, 3.1%). Children with a petechial rash were more likely than other febrile children to have sepsis or meningitis (OR 8.5, 95% CI 5.3-13.1) and bacterial infections (OR 1.4, 95% CI 1.0-1.8) as well as need for immediate life-saving interventions (OR 6.6, 95% CI 4.4-9.5) and intensive care unit admissions (OR 6.5, 95% CI 3.0-12.5). CONCLUSION: The combination of fever and petechial rash is still an important warning sign for childhood sepsis and meningitis. Ruling out coughing and/or vomiting was insufficient to safely identify low-risk patients.


Assuntos
Exantema , Meningite , Púrpura , Sepse , Criança , Humanos , Lactente , Febre/diagnóstico , Febre/etiologia , Púrpura/etiologia , Púrpura/complicações , Sepse/complicações , Sepse/diagnóstico , Meningite/diagnóstico , Meningite/complicações , Exantema/diagnóstico , Exantema/etiologia , Serviço Hospitalar de Emergência
2.
Int Wound J ; 20(3): 871-879, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36237171

RESUMO

The systemic and respiratory clinical manifestations of coronavirus disease 2019 (COVID-19) include fever, coughing, sneezing, sore throat, rhinitis, dyspnea, chest pain, malaise, fatigue, anorexia and headache. Moreover, cutaneous manifestations have been reported in 0.2% to 20.4% of cases. Early diagnosis of COVID-19 leads to a better prognosis; knowledge of its cutaneous manifestations is one way that may help fulfil this goal. In this review, PubMed and Medline were searched with the terms "dermatology", "skin" and "cutaneous", each in combination with "SARS-CoV-2" or "COVID-19". All articles, including original articles, case reports, case series and review articles published from the emergence of the disease to the time of submission, were included. In this comprehensive narrative review, we tried to provide an analysis of the cutaneous manifestations associated with COVID-19, including maculopapular rash, urticaria, Chilblain-like, vesicular lesions, livedo reticularis and petechiae in asymptomatic/symptomatic COVID-19 patients that might be the first complication of infection after respiratory symptoms. Immune dysregulation, cytokine storms, side effects of antiviral drugs, environmental conditions and high-dose intravenous immunoglobulin (IVIG) therapy might be involved in the pathogenesis of the cutaneous manifestations in COVID-19 patients. Therefore, knowledge of cutaneous COVID-19 manifestations might be vital in achieving a quick diagnosis in some COVID-19 patients, which would help control the pandemic. Further research is very much warranted to clarify this issue.


Assuntos
COVID-19 , Dermatopatias , Humanos , COVID-19/complicações , SARS-CoV-2 , Prognóstico , Diagnóstico Precoce , Dermatopatias/diagnóstico , Dermatopatias/etiologia , Dermatopatias/terapia
3.
J Cutan Med Surg ; 26(2): 189-197, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34663122

RESUMO

Coronavirus disease (COVID-19) skin manifestations have been increasingly reported in medical literature. Recent discussions have identified a lack of images of skin of color (SOC) patients with COVID-19 related skin findings despite people with skin of color being disproportionately affected with the disease. There have been calls to prioritize the identification of COVID-19 skin manifestations in patients with SOC and disseminate these findings. The objective of this article is to review the existing literature on COVID-19 skin manifestations and, where possible, discuss how they may present differently in patients with SOC. Further research is needed to allow primary care physicians and dermatologists to be aware of and easily identify patients with cutaneous findings that may be secondary to COVID-19. Patients presenting with idiopathic dermatologic manifestations should be considered for COVID-19 testing and follow public health guidelines for self-isolation.


Assuntos
COVID-19 , Dermatopatias , COVID-19/complicações , Teste para COVID-19 , Humanos , SARS-CoV-2 , Dermatopatias/diagnóstico , Dermatopatias/etiologia , Pigmentação da Pele
4.
Am J Emerg Med ; 45: 196-201, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33041117

RESUMO

BACKGROUND: Palatal petechiae are predictive of Group A streptococcal (GAS) pharyngitis. We sought to (a) quantify the value of considering petechiae in addition to exudate, and (b) assess provider incorporation of petechiae's predictive nature for GAS into clinical decision making. METHODS: We conducted a cross-sectional study of patients 3-21 years with sore throat and GAS testing performed in a pediatric emergency department (ED) in 2016. Patients were excluded if immunosuppressed, nonverbal, medically complex, had chronic tonsillitis, or received antibiotics in the preceding week. As a proxy of provider incorporation of petechiae into clinical decision making we assessed how often petechiae were documented, compared with exudate. We performed univariate analysis using χ2 analysis for categorical data and Mann-Whitney U test for continuous data. RESULTS: 1574 patients met inclusion criteria. Median age 8 years [IQR 5, 13]; 54% female. 372 patients (24%) were GAS positive. Both palatal petechiae and tonsillar exudates were predictive of GAS [OR 8.5 (95% CI 5.2-13.9), and 1.9 (95% CI 1.4-2.6) respectively]. Examining petechiae or exudate vs. exudate alone increases OR from 1.9 to 2.9 (95% CI 2.2-3.8). Sensitivity improves (23% to 34%) with minimal change to specificity (87% to 85%). Among those with a normal or erythematous throat exam, petechiae were mentioned as a pertinent negative in 28%; absence of tonsillar exudate was mentioned in 78% (p = .02). CONCLUSIONS: Palatal petechiae are highly associated with GAS, yet rarely addressed in documentation. Incorporating palatal petechiae into common scoring systems could improve prediction and disseminate this knowledge into practice.


Assuntos
Faringite/diagnóstico , Faringite/microbiologia , Púrpura , Infecções Estreptocócicas/diagnóstico , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Serviço Hospitalar de Emergência , Exsudatos e Transudatos/metabolismo , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Streptococcus pyogenes , Adulto Jovem
5.
Hautarzt ; 72(1): 65-70, 2021 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-32803361

RESUMO

Pupura annularis telangiectodes (PAT) is a rare entity belonging to the spectrum of the pigmented purpuric dermatoses. PAT presents clinically as symmetric, annular erythema with teleangiectasia on the lower extremities and preferably affects young women. Histology usually reveals extravasated erythrocytes accompanied by a lymphocyte-dominated inflammatory infiltrate in the superficial dermis. Medication can often be identified as causative. In patients with idiopathic disease, topical corticoidsteroids are the treatment of choice. Compression therapy may be supportive.


Assuntos
Púrpura , Eritema , Feminino , Humanos
6.
Dermatol Ther ; 33(6): e14053, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32700813

RESUMO

Disseminated intravascular coagulation (DIC) is linked with severe COVID-19, prompting considerable concern. DIC can be a devastating systemic disorder. It is often markedly manifest on the skin as acrocyanosis or as petechiae and purpura with progression to hemorrhagic bullae. Subcutaneous hematomas may occur, as may thrombotic findings including necrosis and gangrene. The most common cause is infection, with special emphasis now on COVID-19. We have reviewed the medical literature under the search terms "Disseminated intravascular coagulation" and "consumption coagulopathy" for the past two decades in the English language using Medline and Google Scholar to update special concerns and considerations, focusing on those with COVID-19. Skin findings with DIC may be prominent. The severity of cutaneous lesions often correlates with the gravity of systemic disease. DIC is most effectively treated by addressing the underlying cause and resuscitating the patient using supportive measures. It is pivotal to recognize and treat DIC early, before deadly complications, such as multiple organ failure, arise.


Assuntos
Coagulação Sanguínea , COVID-19/virologia , Coagulação Intravascular Disseminada/virologia , SARS-CoV-2/patogenicidade , COVID-19/sangue , COVID-19/complicações , COVID-19/terapia , Coagulação Intravascular Disseminada/sangue , Coagulação Intravascular Disseminada/diagnóstico , Coagulação Intravascular Disseminada/terapia , Diagnóstico Precoce , Interações Hospedeiro-Patógeno , Humanos , Valor Preditivo dos Testes , Prognóstico , Medição de Risco , Fatores de Risco
7.
Eur J Pediatr ; 178(5): 771-776, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30826864

RESUMO

Cutaneous manifestation is a common presentation of LCH and is usually a leading clue for the disease diagnosis. Having cutaneous lesions did not show a significantly early age onset at diagnosis compared to those without skin lesions, P value = 0.71. In the present study, cutaneous findings were found as 77.7%. Seborrheic dermatitis-like lesions were the most common cutaneous type (42.8%), followed by papules/nodules/masses (28.5%), petechiae/hemorrhagic lesions (17.8%), and eczematous lesions (10.7%). Time to diagnosis of LCH presented with seborrheic dermatitis-like lesions was significantly longer than other cutaneous presentations, P value = 0.0011.Conclusion: Patients with LCH who had the manifestations of seborrheic dermatitis-like lesions can have diagnosis delayed due to the difficulty in distinguishing these lesions from normal seborrheic dermatitis lesions. Petechiae/hemorrhagic cutaneous signs in addition to the normal seborrheic dermatitis is the clue for early detection of the disease. To improve early detection of LCH, general pediatricians should be alerted to be aware of these skin symptoms, and if they persist, a dermatologist, pediatric if available, should be immediately consulted. What is Known? • Cutaneous manifestation is a common presentation of LCH and is usually a leading clue for the disease diagnosis. What is New? • Patients with LCH who have the manifestations of seborrheic dermatitis-like lesions can have a delayed diagnosis due to the difficulty in distinguishing normal from seborrheic dermatitis lesions. • Petechiae/hemorrhagic cutaneous signs in addition to the normal seborrheic dermatitis are the clue to the early disease detection.


Assuntos
Histiocitose de Células de Langerhans/diagnóstico , Dermatopatias/etiologia , Diagnóstico Tardio , Diagnóstico Diferencial , Diagnóstico Precoce , Histiocitose de Células de Langerhans/complicações , Humanos , Estudos Retrospectivos , Dermatopatias/diagnóstico , Dermatopatias/epidemiologia
8.
Forensic Sci Med Pathol ; 15(1): 13-22, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30390281

RESUMO

The present study aimed to determine whether postmortem period, physical constitution, cause of death, and cardiopulmonary resuscitation are associated with positional changes in the postmortem appearance of conjunctival petechiae. We retrospectively investigated serial forensic autopsies from 6 h to 6 days postmortem (n = 442; male, 303; female, 139; median age, 62 years; range, 0-100 years). The causes of death were sharp instrument injury, blunt force trauma, fire, intoxication, asphyxia, drowning, hypothermia, hyperthermia, acute heart failure, and natural causes. Of these, 28 (male, n = 18; female, n = 10) were aged ≤5 years. Palpebral conjunctival petechiae were initially assessed at autopsy in supine bodies, then reassessed in prone bodies after 30 min. Among 414 bodies, 291 (70.2%) and 123 (29.7%) who were aged between 6 and 100 years, and 18 (64.2%) and 10 (35.7%) aged <5 years at the time of death, were discovered in the supine and prone positions, respectively. The amounts of petechiae increased within 1.5 days postmortem, but not in those discovered in the prone position. The rates at which petechiae increased were higher in supine overweight bodies (BMI ≥ 25.0) and in those who were discovered supine and had died of asphyxia or drowning (37.5%). Cardiopulmonary resuscitation for bodies discovered in the supine and prone positions did not statistically affect the occurrence of petechiae. Several postmortem factors can cause hypostatic blood redistribution that manifests as increased amounts of petechiae in the palpebral conjunctivae.


Assuntos
Túnica Conjuntiva/patologia , Mudanças Depois da Morte , Decúbito Ventral , Púrpura/patologia , Decúbito Dorsal , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , Reanimação Cardiopulmonar , Causas de Morte , Criança , Feminino , Patologia Legal , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
9.
J Emerg Med ; 55(1): 42-50, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29685474

RESUMO

BACKGROUND: Rocky Mountain spotted fever (RMSF) is potentially deadly and can present subtly with signs and symptoms overlapping with other clinical conditions. Delayed diagnosis can be fatal. OBJECTIVE: This review provides an evidence-based summary of the current data for the evaluation and management of RMSF in the emergency department. DISCUSSION: RMSF occurs through transmission of Rickettsia rickettsii by an infected tick. Exposure in the United States occurs most commonly from April to September, and high-risk locations include wooded, shrubby, or grassy areas. Approximately half of patients with infection do not recall tick exposure. Symptoms can include fever, headache, photophobia, malaise, myalgias, and a petechial rash that begins on the wrists and ankles and spreads to the trunk. Rash may not occur in ≤15% of patients, and the classic triad of fever, headache, and rash is also not definitive. Laboratory evaluation may demonstrate hyponatremia, anemia, thrombocytopenia, abnormal liver enzymes, and elevated coagulation tests. Antibody testing can be helpful, but these results are not typically available to the emergency clinician. Doxycycline is the treatment of choice in adults, children, and pregnant patients. Patients should be advised about prevention strategies and effective techniques for removing ticks. CONCLUSIONS: RMSF is a potentially deadly disease that requires prompt recognition and management. Focused history, physical examination, and testing are important in the diagnosis of this disease. Understanding the clinical features, diagnostic tools, and proper treatment can assist emergency clinicians in the management of RMSF.


Assuntos
Febre Maculosa das Montanhas Rochosas/diagnóstico , Animais , Antibacterianos/uso terapêutico , Diagnóstico Tardio/mortalidade , Doxiciclina/uso terapêutico , Serviço Hospitalar de Emergência/organização & administração , Exantema/etiologia , Febre/etiologia , Cefaleia/etiologia , Humanos , Rickettsia rickettsii/patogenicidade , Picadas de Carrapatos/complicações , Picadas de Carrapatos/fisiopatologia , Carrapatos/patogenicidade
10.
Dig Dis Sci ; 62(4): 874-878, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28251502

RESUMO

IgA vasculitis is primarily a pediatric disease that is rarely encountered in adults. With adults, gastrointestinal manifestations are quite common, yet are nonspecific and may overlap with other diseases, particularly Crohn's disease, which can make the diagnosis a challenging task. Treatment is controversial given the disease course is usually self-limited with few serious complications. We present a case of IgA vasculitis in an adult patient with limited extraintestinal findings illustrating the complexity of arriving at the correct diagnosis.


Assuntos
Exantema/sangue , Exantema/diagnóstico , Imunoglobulina A/sangue , Vasculite/sangue , Vasculite/diagnóstico , Dor Abdominal/sangue , Dor Abdominal/diagnóstico , Dor Abdominal/tratamento farmacológico , Exantema/tratamento farmacológico , Humanos , Masculino , Esteroides/administração & dosagem , Vasculite/tratamento farmacológico , Adulto Jovem
11.
J Emerg Med ; 52(4): 457-471, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27913079

RESUMO

BACKGROUND: Rash is a common complaint in the emergency department. Many causes of rash are benign; however, some patients may have a life-threatening diagnosis. OBJECTIVE: This review will present an algorithmic approach to rashes, focusing on life-threatening causes of rash in each category. DISCUSSION: Rash is common, with a wide range of etiologies. The differential is broad, consisting of many conditions that are self-resolving. However, several conditions associated with rash are life threatening. Several keys can be utilized to rapidly diagnose and manage these deadly rashes. Thorough history and physical examination, followed by consideration of red flags, are essential. This review focuses on four broad categories based on visual and tactile characteristic patterns of rashes: petechial/purpuric, erythematous, maculopapular, and vesiculobullous. Rashes in each morphologic group will be further categorized based on clinical features such as the presence or absence of fever and distribution of skin lesions. CONCLUSIONS: Rashes can be divided into petechial/purpuric, erythematous, maculopapular, and vesiculobullous. After this differentiation, the presence of fever and systemic signs of illness should be assessed. Through the breakdown of rashes into these classes, emergency providers can ensure deadly conditions are considered.


Assuntos
Exantema/etiologia , Exantema/patologia , Dermatopatias/diagnóstico , Diagnóstico Diferencial , Eritema/diagnóstico , Eritema/etiologia , Exantema/diagnóstico , Febre/etiologia , Humanos , Púrpura/diagnóstico , Púrpura/etiologia , Dermatopatias Vesiculobolhosas/diagnóstico , Dermatopatias Vesiculobolhosas/etiologia
12.
Infect Disord Drug Targets ; 24(8): e180324228044, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38500271

RESUMO

Every year witnesses an outbreak of some or the other zoonotic disease that causes the unparalled loss of human life. The year 2022 presented the outbreak of Crimean Congo haemorrhagic fever (CCHF), which brought unprecedented challenges to individuals as well as to the healthcare system all around the world, making it a serious health concern. Rising health concerns have highlighted the importance of managing and decreasing the further transmission of the CCHF virus. CCHF is one of tick-borne viral diseases, which spreads due to various reasons like changes in global warming, environmental influences, and other ecological factors. All these factors somehow impact the disease prevalence. This disease has a negative impact on both humans and livestock. The diverse climate and significant livestock population of India make it susceptible to the prevalence of CCHF. Therefore, it is the need of the hour to develop some strategies in order to tackle the challenges posed by CCHF. This article includes all the cases of CCHF that have occurred in India from the year 2011, along with the fatality rates associated with this disease. Also this study discusses the need to explore some specific drugs for the management and prevention of such diseases. In addition, the pathogenesis of the disease progression, along with some protective measures suggested by the government has been described for prevention of CCHF. Subsequently, this article attempted to draw attention towards the risk that may be posed by CCHF in the coming scenario, emphasizing the importance of taking proactive measures in anticipation of such risks.


Assuntos
Surtos de Doenças , Vírus da Febre Hemorrágica da Crimeia-Congo , Febre Hemorrágica da Crimeia , Febre Hemorrágica da Crimeia/epidemiologia , Febre Hemorrágica da Crimeia/transmissão , Humanos , Índia/epidemiologia , Animais , Vírus da Febre Hemorrágica da Crimeia-Congo/patogenicidade , Zoonoses/epidemiologia , Zoonoses/transmissão , Gado/virologia , Prevalência , Carrapatos/virologia , Fatores de Risco
13.
Adv Pediatr ; 71(1): 229-240, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38944486

RESUMO

Pediatric immune thrombocytopenia (ITP) is a fairly common bleeding disorder PRESENTING with a decreased number of platelets. The typical clinical presentation involves mild bleeding symptoms with bruising and petechiae and occasional mucosal bleeding. ITP is thought to be an autoimmune disorder and more recently other mechanisms have been described. Most cases resolve spontaneously and can undergo watchful waiting as the platelet count improves. Initially, steroids or intravenous immunoglobulin G (IVIg) can be used to increase platelets. For those cases that do not resolve and become persistent or chronic, there are multiple treatment options, with new agents being studied in adults that will hopefully make it to clinical trials in pediatrics in the future.


Assuntos
Imunoglobulinas Intravenosas , Púrpura Trombocitopênica Idiopática , Humanos , Criança , Púrpura Trombocitopênica Idiopática/terapia , Púrpura Trombocitopênica Idiopática/diagnóstico , Imunoglobulinas Intravenosas/uso terapêutico , Contagem de Plaquetas
14.
J Forensic Sci ; 69(2): 718-724, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38317612

RESUMO

Fat embolism syndrome (FES) is a potentially life-threatening condition that develops when fat embolism leads to clinical symptoms and multisystem dysfunction. The classic triad of respiratory distress, neurologic symptoms, and petechial rash are non-specific, and the lack of specific laboratory tests makes the diagnosis of FES difficult. Although FES is most common after long bone fractures, multiple conditions some of which are atraumatic have been associated with the development of FES. We report a case of FES that occurred in the setting of a non-traumatic compartment syndrome of the upper extremities. The pathologic and clinical findings, pathophysiology, diagnostic challenges, and pathologic methods to properly diagnose FES are discussed with a review of the relevant literature. This case highlights the importance of the autopsy in making a diagnosis of FES in cases where death could otherwise be incorrectly attributed to multi-organ system failure, shock, or sepsis.


Assuntos
Síndromes Compartimentais , Embolia Gordurosa , Fraturas Ósseas , Humanos , Fraturas Ósseas/complicações , Síndromes Compartimentais/complicações , Embolia Gordurosa/etiologia , Insuficiência de Múltiplos Órgãos/etiologia , Autopsia
15.
Cureus ; 16(8): e66835, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39280452

RESUMO

Granulomatosis with polyangiitis (GPA) is a form of ANCA-associated vasculitis characterized by necrotizing vasculitis affecting small blood vessels. The clinical presentation varies based on organ involvement, commonly affecting the upper and lower respiratory tracts and kidneys. Typical GPA presents as recurrent sinus infection, otitis media, dyspnea, chest pain, and glomerulonephritis, which can present as hematuria, proteinuria, and elevated serum creatinine. ANCA tests positive in the majority of cases. Treatment strategies involve induction of remission and maintenance therapy. We report a case of a 48-year-old female presenting with a hypertensive emergency, a rarely reported manifestation of GPA. She initially presented with severe headache and cough, with systolic blood pressure exceeding 220 mmHg, necessitating hospital admission. The initial workup revealed elevated serum creatinine and CT chest findings suggestive of multi-lobar pneumonia, for which she received antibiotic treatment. Despite aggressive antihypertensive therapy, her blood pressure remained refractory, and she developed hematuria and anemia, requiring a blood transfusion. Further evaluation revealed a history of joint pain, recurrent sinus infections, and a pruritic skin rash, prompting suspicion of vasculitis. Further work-up included elevated erythrocyte sedimentation rate (ESR), normal IgE, absence of eosinophilia, and positive PR3 antibodies and c-ANCA. Prompted by clinical suspicion, treatment with steroids was initiated, and a kidney biopsy confirmed acute necrotizing pauci-immune glomerulonephritis consistent with GPA. Subsequently, rituximab therapy was initiated, resulting in significant improvement in her clinical symptoms and blood pressure, and the patient was successfully discharged home. This case highlights a rare presentation of GPA as a hypertensive emergency, possibly linked to renal involvement in the form of glomerulonephritis. Pulmonary manifestations mimicking infections posed diagnostic challenges. Cutaneous findings potentially associated with increased joint and renal involvement underscore the clinical complexity of GPA. The unusual presentation of hypertensive emergency in young patients underscores the need for heightened awareness of this potential manifestation in GPA. Early recognition and aggressive immunosuppressive therapy are crucial to mitigate irreversible renal damage in such atypical presentations.

18.
J Pediatr Genet ; 12(3): 213-218, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37575639

RESUMO

Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This was a retrospective study of confirmed cases of ethylmalonic aciduria from a tertiary care hospital over a period of 5 years from January 2015 to December 2020. Case details including analysis of clinical history, investigations, and outcomes are presented. Of six cases, male-to-female ratio was 4:2. Mean age of presentation was 35.5 months (range: 14-83 months). Consanguinity, global developmental delay, failure to thrive, skin rashes, microcephaly, hypotonia, and exaggerated deep tendon reflexes were observed in all cases. Chronic diarrhea was presented in five cases. The serum levels of C4 carnitine and urinary levels of ethylmalonic acid were increased in all cases. Magnetic resonance imaging (MRI) of the brain showed heterogenous bilateral symmetrical changes in the basal ganglia in five cases, and in one case, MRI could not be done. Genetic testing in two cases showed a homozygous variant in ETHE1 gene. Four children died, while the other two cases showed a decreased in recurrent encephalopathies and diarrhea after starting metronidazole. All children had global developmental delay, failure to thrive, skin rashes, central hypotonia, increased C4 carnitine levels in the serum, and increased ethylmalonic acid in the urine. Chronic diarrhea, acrocyanosis, and basal ganglia change in the MRI of the brain also give important clues for diagnosis. Metronidazole is useful in preventing recurrent episodes of encephalopathy.

19.
J Med Life ; 16(12): 1869-1871, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38585535

RESUMO

Valsalva purpura refers to purpura resulting from performing the Valsalva maneuver, a forced expiratory effort against a closed glottis. There are limited reported cases of Valsalva purpura in children, specifically on the cheeks. We present the case of a 7-year-old child who developed Valsalva purpura on his cheeks after performing the Valsalva maneuver during deep breathing exercises by holding his breath underwater during his swimming sessions. This article overviews the relationship between the Valsalva maneuver, purpura, and similar cases.


Assuntos
Púrpura , Manobra de Valsalva , Criança , Humanos , Púrpura/etiologia
20.
Cureus ; 15(8): e42792, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37664302

RESUMO

Cytomegalovirus (CMV) is the most common congenital infection worldwide and in the United States. The majority of healthy adults who acquire CMV infections have few symptoms and no long-term consequences, though this is not the case for certain groups, including neonates infected in utero. This infection can lead to permanent sequelae, including death. Despite this, congenital cytomegalovirus (cCMV) is not well known among women of childbearing age. Women are more informed about neural tube defects, fetal alcohol syndrome, Down syndrome, and toxoplasmosis than they are about cCMV, although these pose less threat to the newborn. This is a case of a newborn presenting with petechiae, thrombocytopenia, and direct hyperbilirubinemia due to cCMV infection. The initial diagnosis was congenital sepsis, not cCMV. This case report highlights the importance of including a TORCH (toxoplasmosis, others, such as syphilis, rubella, CMV, and herpes) panel when considering abnormal neonatal findings. Diagnosing cCMV is critical, especially because untreated infection can cause permanent sequelae, including death.

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