Morganella sp. infection in scent gland of corn snake (Pantherophis guttatus) - case report / Infecção por Morganella sp. em glândula de cheiro de corn snake (Pantherophis guttatus) - relato de caso

The corn snake (Pantherophis guttatus) is a non-venomous snake from the Colubridae family. The pair of scent glands is indispensable in the physiology of reproduction and defense of the species. This structure is located caudal to the cloaca. It is responsible for releasing a thick material based on lipids containing pheromones that perform functions associated with animal behavior and survival. This work aims to report infection by Morganella sp. in a scent gland in a female corn snake, evidencing the diagnosis and treatment. An increase in volume was seen in the final third, proximal to the cloaca, firm consistency, immobile, and approximately 4 cm long and painful to touch. Samples of the material were collected for bacterial culture and antibiogram examination, being positive for bacteria of the genus Morganella. Based on the result of the antibiogram, it was possible to determine the most appropriate therapeutic protocol, with the referral to perform the surgical procedure to remove the tissue compromised by the infection, remaining stable until the removal of the stitches 40 days after the procedure, with total surgical wound healing.(AU)

A corn snake (Pantherophis guttatus) é uma serpente não peçonhenta, da família Colubridae. Na fisiologia da reprodução e defesa da espécie, o par de glândulas de cheiro é indispensável. Essa estrutura está localizada caudal à cloaca e é responsável pela liberação de um material espesso à base de lipídeos, contendo feromônios que exercem funções associadas ao comportamento animal e à sua sobrevivência. O objetivo desse trabalho é relatar uma infecção por Morganella sp. em glândula de cheiro em uma fêmea de corn snake, evidenciando o diagnóstico e tratamento. Observou-se um aumento de volume no terço final, proximal a cloaca, de consistência firme, imóvel e com aproximadamente 4 cm de comprimento e sensibilidade dolorosa ao toque. Foram coletadas amostras do material para cultura bacteriana e exame de antibiograma, sendo positivo para bactérias do gênero Morganella. Com base no resultado do antibiograma, foi possível determinar o protocolo terapêutico mais adequado, como o encaminhamento para realização do procedimento cirúrgico para remoção do tecido comprometido pela infecção, se mantendo estável até a remoção dos pontos, 40 dias após o procedimento, com total cicatrização da ferida cirúrgica.(AU)

Adenitis cervical con anaerobios sin causa aparente en lactante / Cervical adenitis with anaerobes without apparent cause in infant

Las adenopatías cervicales benignas en lactantes son relativamente frecuentes, se definen como el aumento de volumen ganglionar de más de 1 cm, sin síntomas sistémicos y cuando están presentes, el término correcto es adenitis. Para su estudio, las adenitis se dividen en: locales, sistémicas, unilaterales, bilaterales, agudas, crónicas, y por edad, con diferentes etiologías. Se presenta el caso clínico de un lactante de 11 meses de edad con diagnóstico de adenitis cervical abscedada unilateral aguda, con cuadro de 72 h de evolución, con crecimiento constante a nivel cervical derecho, compromiso del estado general, fiebre y anorexia, por lo que se inician antibióticos de primera línea para los agentes bacterianos más frecuentes (Staphylococcus aureus y Streptococcus pyogenes), con evolución tórpida a las 48 h, por lo que se solicita ultrasonido cervical, ya que la familia no contaba con recursos para solicitar cultivo o tomografía, reportando el ultrasonido ganglio cervical de 3,5 cm de diámetro abscedado, por lo que se agrega cobertura para anaerobios, con respuesta muy favorable a las 24 h. Queda la duda del origen de los anaerobios en la paciente, sin antecedentes de importancia y en grupo etario diferente al afectado por esos gérmenes. Consideramos este caso interesante por su comportamiento atípico, para el enriquecimiento del ejercicio de la otorrinolaringología, recalcando el invaluable apoyo de la clínica y solo con un ultrasonido, ya que no siempre se tendrán todos los recursos disponibles, pero siguiendo las pautas de lo reportado en la literatura, se tuvo una resolución exitosa.

Benign cervical lymphadenopathies in infants are relatively frequent, they are defined as an increase in lymph node volume of more than 1 cm, without systemic symptoms, and when they are present, the correct term is adenitis. For its study, adenitis is divided into: local, systemic, unilateral, bilateral, acute, chronic, and by age, with different etiologies. An 11-month-old infant with a diagnosis of acute unilateral abscessed cervical adenitis, with a 72 h evolution, with constant growth at the right cervical level, fever and anorexia, for which first-line antibiotics were started to the most frequent bacterial agents (Staphylococcus aureus and Streptococcus pyogenes), with torpid evolution at 48 h, for which only cervical ultrasound is requested, since the family did not have the resources to request culture or tomography, reporting the cervical ganglion ultrasound of 3.5 cm of abscessed diameter, so coverage for anaerobes is added, with a very favorable response at 24 hrs. There remains the doubt of the origin of the anaerobes in the patient, without important antecedents and in an age group different from that affected by these germs. We consider this case interesting due to its atypical behavior, for the enrichment of the otolaryngology exercise, emphasizing the invaluable support of the clinic, and only with an ultrasound, since other clinical tools were not available, but following the guidelines of what is reported in literature, there was a successful resolution.

Síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis / Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome

Introducción: El síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis es un cuadro relativamente frecuente de curso autolimitado y buen pronóstico. Es la más común de las enfermedades autoinflamatorias que presentan fiebre recurrente y su etiología y fisiopatogenia permanecen inciertas. Objetivo: Describir el caso clínico de un niño que consultó por fiebre recurrente y faringitis y se arribó al diagnóstico de síndrome de fiebre periódica, estomatitis aftosa, faringitis y adenitis. Presentación del caso: Se trata de un paciente de 5 años que consultó por un episodio febril acompañado de faringitis y adenitis, con antecedente de múltiples episodios previos. Conclusiones: El síndrome fiebre periódica, estomatitis aftosa, faringitis y adenitis, es una entidad de curso benigno y autolimitado que constituye la causa más común de fiebre recurrente con un gran impacto en la vida de los pacientes. La fisiopatogenia permanece incierta. Es destacable la sospecha clínica para arribar al diagnóstico ya que no existen en la actualidad exámenes complementarios específicos(AU)

Introduction: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a relatively common picture of self-limiting course and good prognosis. It is the most common of self-inflammatory diseases with recurrent fever and its etiology and physiopathology remain uncertain. Objective: Describe the clinical case of a boy who was checked due recurrent fever and pharyngitis and being diagnosed with Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. Case presentation: This is a 5-year-old patient who was consulted due to a febrile episode accompanied by pharyngitis and adenitis, with a history of multiple previous episodes. Conclusions: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome is a benign, self-limiting course entity that is the most common cause of recurrent fever with a large impact on patients' lives. Its physiopathology remains uncertain. Clinical suspicion for diagnosis is noteworthy as there are currently no specific complementary test for it(AU)

Adenomegalia dolorosa: doença de Kikuchi entre os diagnósticos diferenciais / Painful adenomegaly: Kikuchi disease among differential diagnoses

RESUMO: A doença de Kikuchi-Fujimoto ou linfadenite histiocítica necrosante, de curso benigno, é prevalente em mulheres jovens, e associada à febre e leucopenia. Estudos recentes têm demostrado que sua etiologia ainda é incerta, sendo uma doença rara, com incidência de 0,5 a 5% de todas as adenopatias analisadas histologicamente. O diag-nóstico diferencial por imunohistoquímica foi decisivo, descartando outras hipóteses diagnósticas como: linfoma, tuberculose ganglionar e lúpus eritematoso sistêmico. Este relato de caso mostra as características da apresentação da doença em uma mulher, caucasiana e todas as etapas da investigação, destacando a importância dos diagnósticos diferenciais em adenopatias dolorosas e as dificuldades quando avaliamos portadores de doenças raras. (AU)

ABSTRACT: Kikuchi-Fujimoto disease or benign necrotizing histiocytic lymphadenitis is prevalent in young women and associated with fever and leukopenia. Recent studies have shown that its etiology is still uncertain, being a rare disease, with an incidence of 0.5 to 5% of all histologically analyzed adenopathies. Differential diagnosis by immunohistochemistry was decisive, ruling out other diagnostic hypotheses such as lymphoma, ganglion tuberculosis, and systemic lupus erythematosus. This case report shows the characteristics of the presentation of the disease in a Caucasian woman and all stages of the investigation, highlighting the importance of differential diagnoses in painful adenopathies and the difficulties when evaluating rare-disease patients. (AU)

Clinical Manifestations of PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis) Syndrome from a Single Center

PURPOSE: Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is a leading cause of periodic fever in children. This study describes the clinical characteristics of PFAPA syndrome in patients from a single center.METHODS: Thirteen children diagnosed with PFAPA syndrome at Seoul National University Children's Hospital were included in this study. Retrospective medical chart reviews were performed.RESULTS: Among the 13 patients, 8 (61.5%) were male. The median follow-up duration was 3.3 years (range, 10 months–8.3 years). The median age of periodic fever onset was 3 years (range, 1–6 years). All patients had at least 5 episodes of periodic fever and pharyngitis, managed with oral antibiotics, before diagnosis. The median occurrence of fever was every 3.9 weeks and lasted for 4.2 days. All patients had pharyngitis and 12 (92.3%) had cervical lymphadenitis. Blood tests were performed for 12 patients, and no patients had neutropenia. Both the C-reactive protein and erythrocyte sedimentation rate were elevated at medians of 4.5 mg/dL (range, 0.4–13.2 mg/dL) and 29 mm/hr (range, 16–49 mm/hr), respectively. Throat swab cultures and rapid streptococcal antigen tests were negative. Nine (69.2%) patients received oral prednisolone at a median dose of 0.8 mg/kg, and in 6 (66.7%) patients, fever resolved within a few hours. Three (23.1%) patients received tonsillectomy and adenoidectomy.CONCLUSIONS: PFAPA syndrome should be considered when a child presents with periodic fever along with aphthous stomatitis, pharyngitis, or cervical lymphadenitis. Glucocorticoid administration is effective for fever resolution and can reduce unnecessary use of antibiotics.

Síndrome celulitis-adenitis, una forma infrecuente de presentación de la sepsis neonatal tardía: A propósito de dos casos / Adenitis-cellulitis syndrome, an infrequent form of presentation of the late-onset neonatal septicemia: Report of two cases

La sepsis es la principal causa de mortalidad neonatal. La forma precoz, habitualmente, está relacionada con la colonización recto-vaginal u otros factores de riesgo materno. En la forma tardía, es difícil establecer su origen; por lo general, es nosocomial o de la comunidad. El Streptococcus agalactiae (Streptococcus beta-hemolítico del grupo B) es el germen implicado con más frecuencia en la sepsis neonatal en países desarrollados. La forma tardía, generalmente, se presenta con septicemia y meningitis, y, en ocasiones, pueden detectarse infecciones osteoarticulares o de piel y tejidos blandos. El síndrome celulitis-adenitis en la región cervical, forma poco frecuente de presentación, es causado por Staphylococcus aureus y, ocasionalmente, por Streptococcus agalactiae. Se reportan 2 casos de sepsis neonatal tardía con clínica de celulitis-adenitis cervical causados por Streptococcus beta-hemolítico del grupo B, con una evolución satisfactoria con terapia antibiótica de amplio espectro.

Septicemia is the main cause of neonatal mortality. The early-onset neonatal sepsis is usually related to maternal factor risks including recto-vaginal colonization. In the late-onset neonatal septicemia it is more difficult to establish the etiology because the majority of the cases are nosocomial or community related. The Streptococcus agalactiae (beta-hemolytic Streptococcus) is the most frequent germ associated with neonatal sepsis in developed countries. The late-onset form usually occurs with septic symptoms and meningitis and, in a few cases, with osteoarticular, skin and soft tissue infection. Adenitis-cellulitis syndrome is rarely seen, and its main cause is Staphylococcus aureus, followed by Streptococcus agalactiae. We report two cases of group B Streptococcus late-onset neonatal septicemia, both of them with adenitis-cellulitis syndrome. Patients recovered uneventfully after an adequate antibiotic therapy.

Fiebre periódica con estomatitis aftosa, faringitis, y adenitis / Periodical fever with aphthous stomatitis, pharyngitis, and adenitis (PFAPA syndrome)

RESUMEN Se presenta un caso de fiebre periódica con estomatitis aftosa, faringitis, y adenitis síndrome de fiebre periódica con estomatitis aftosa, faringitis, y adenitis, entidad aparentemente infrecuente de la cual no se recoge reporte en el país. La etiología no es todavía bien comprendida, se observa con mayor frecuencia entre los 2 y 5 años, aunque se han descrito casos en adultos. Se caracteriza por fiebre periódica con estomatitis aftosa, faringitis, y adenitis de carácter periódica con una dramática respuesta al uso de esteroide en la mayoría de los casos. El caso que se presenta es un paciente de 5 años de edad, sexo masculino, con cuadros de fiebre periódica asociado a amigdalitis con exudado, adenitis y lesiones aftosas, con respuesta en la fase aguda a la prednisona y con respuesta al tratamiento de mantenimiento con cimetidina. En la actualidad lleva 11 meses en remisión (AU).

ABSTRACT We present a case of periodical fever with aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome), entity that is apparently infrequent and its report in the country was not found. Its etiology is not still clearly understood. It appears with higher frequency in the ages between 2 and 5 years, though it has been described in adult population. It is characterized by periodical fever with aphthous stomatitis, pharyngitis and adenitis of periodical character, with a dramatic answer to the use of steroids in most of the cases. The case that is presented is the one of a male patient aged 5 years with reiterative periodical fever associated to tonsillitis with exudate, adenitis and aphthous lesions, with answer, in the acute phase, to prednisone, and to cimetidine at the maintenance therapy. Nowadays, he is already 11 months in remission (AU).

Tuberculosis ganglionar / Ganglionar tuberculosis

Introducción: La tuberculosis es una enfermedad que aún se diagnostica en Cuba. Aunque la forma pulmonar predomina, se presentan en ocasiones diversas formas localizadas a otros órganos y tejidos, dentro de ellas la forma ganglionar. Caso clínico: Se presenta una joven de 21 años con fiebre de 15 días de evolución y aumento de volumen no doloroso de los ganglios del cuello y preauricular izquierdo. Luego de tratamiento antibiótico la fiebre desaparece pero las adenopatías persisten. Se hace una primera exéresis ganglionar la cual arroja una adenitis crónica agudizada con abscedación. Se realiza Mantoux el cual arroja un resultado de 32 mm. El Rx de tórax y la tomografía axial computadorizada tóraco-abdominal no arrojaron ninguna alteración. Se hace una nueva exéresis ganglionar cuyo estudio anatomopatológico informa la presencia de granulomas caseificados. El estudio microbiológico del tejido arrojó Mycobacterium tuberculosos, codificación 8. Comentarios: La tuberculosis ganglionar es la primera forma de tuberculosis extrapulmonar en aquellos países con baja incidencia de esta enfermedad. Es más frecuente en mujeres y en la localización cervical. La cutirreacción de Mantoux hiperérgica es orientadora en el diagnóstico, pero se requiere del estudio histológico de un ganglio con la presencia de granulomas caseificados y la demostración del bacilo en este tejido. Se presenta este caso para recordar que esta entidad debe ser tenida en cuenta en el estudio de todo síndrome adénico febril y que es necesario que en el estudio histológico de toda exéresis ganglionar deben realizarse las técnicas necesarias para llegar a este diagnóstico(AU)

Introduction: Tuberculosis continues to be a disease diagnosed in Cuba. Although the pulmonary form continues to predominate, several localized forms are sometimes presented to other organs and tissues, including the ganglionic form. Clinical case: A 21-year-old girl presented with a fever of 15 days of evolution and a non-painful volume increase of the neck and left preauricular lymph nodes. After antibiotic treatment the fever disappears but the adenopathies persist. A first lymph node excision is performed, which results in acute chronic adenitis with abscess. Mantoux is performed with a result of 32 mm. The chest X-ray and the thoraco-abdominal CT scan did not show any alteration. A new lymph node excision is performed, whose anatomopathological study reports the presence of caseified granulomas. The microbiological study of the tissue resulted tuberculous Mycobacterium, coding 8. Comments: Lymph node tuberculosis is the first form of extrapulmonary tuberculosis in those countries with low incidence of this disease. It is more frequent in women and in the cervical location. The hyperergic Mantoux is a guide in the diagnosis, but the histological study of a ganglion with the presence of caseified granulomas and the demonstration of the bacillus in this tissue is required. This case is presented to remember that this entity must be taken into account in the study of any febrile adenic syndrome and that it is necessary that in the histological study of any lymph node excision the necessary techniques must be performed to reach this diagnosis(AU)

Fístula esofágica por adenitis mediastinal tuberculosa / Esofagic fistula by mediastinal tuberculosa adenitis

Se presenta una fístula esofágica por adenitis mediastinal tuberculosa, que evoluciónó favorablemente con tratamiento antituberculoso. Se hacen consideraciones acerca de la escasa frecuencia de estos casos, su confusión con otras enfermedades y su buena evolución con tratamiento médico.

A case of oesophageal fistulae caused by tuberculous mediastinal adenitis, which evolved favorably with antituberculous treatment is presented. Considerations about the rarity of these cases, confusion with other diseases and their good performance with medical treatment are made.

Pilomatricoma como diagnóstico diferencial de adenitis cervical granulomatosa

El niño con una masa cervical representa un desafío para el pediatra. Lo más frecuente en niños son los procesos benignos de origen infeccioso. Presentamos un niño con tumoración laterocervical posterior con diagnóstico de pilomatricoma, tumor benigno poco conocido en Pediatría . No presenta características específicas, por lo que su diagnóstico se base en el estudio de anatomía patológica. El único tratamiento posible es la exéresis completa. El pilomatricoma se debe incluir en el diagnóstico diferencial de adenitis cervical en niños para evitar intervenciones y tratamientos innecesarios.

Children with neck masses are an everyday challenge for pediatricians. Infectious diseases are the most common etiology in childhood. We report a child with a neck mass who was diagnosed with pilomatrixoma. It is a quite unknown benign skin tumor in pediatrics. It cannot be easily differentiated from other skin tumors, and biopsy is necessary to make the definitive diagnosis. Treatment of pilomatrixoma consists of total surgical excision. Pilomatrixoma should be considered in the differential diagnosis of cervical lymphadenitis in children to avoid unnecessary interventions and antibiotic treatment.

Diretrizes de conduta e tratamento de síndromes febris periódicas: síndrome de febre periódica, estomatite aftosa, faringite e adenite / Guidelines for the management and treatment of periodic fever syndromes: periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome

Resumo Objetivo: Estabelecer diretrizes baseadas em evidências científicas para manejo da síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA). Descrição do método de coleta de evidência: A Diretriz foi elaborada a partir de cinco questões clínicas que foram estruturadas por meio do Pico (Paciente, Intervenção ou Indicador, Comparação e Outcome), com busca nas principais bases primárias de informação científica. Após definir os estudos potenciais para sustento das recomendações, esses foram graduados pela força da evidência e pelo grau de recomendação. Resultados: Foram recuperados e avaliados pelo título e resumo 806 trabalhos e selecionados 32 artigos, para sustentar as recomendações. Recomendações: 1. O diagnóstico da PFAPA é clínico e de exclusão, deve a suspeita ser considerada em crianças que apresentam episódios febris de origem indeterminada recorrentes e periódicos ou amidalites de repetição, intercalados com períodos assintomáticos, sobretudo em crianças em bom estado geral e com desenvolvimento pondero-estatural mantido; 2. Os achados laboratoriais são inespecíficos. Não existem alterações patognomônicas nos exames complementares; 3. A evidência que sustenta a indicação do tratamento cirúrgico (tonsilectomia com ou sem adenoidectomia) é baseada em dois ensaios clínicos randomizados não cegos que incluíram pequeno número de pacientes; 4. O uso de prednisona no início do quadro febril em pacientes com PFAPA mostrou ser eficaz. Melhores evidências ainda são necessárias para apoiar seu uso na PFAPA; 5. Apesar de os resultados obtidos de estudos com inibidores de IL-1ß serem promissores, esses são limitados a poucos relatos de casos.

Abstract Objective: To establish guidelines based on scientific evidence for the management of periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. Description of the evidence collection method: The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. Results: 806 articles were retrieved and evaluated by title and abstract; from these, 32 articles were selected to support the recommendations. Recommendations: 1. PFAPA is a diagnosis of exclusion established on clinical grounds, and one must suspect of this problem in children with recurrent and periodic febrile episodes of unknown origin, or with recurrent tonsillitis interspersed with asymptomatic periods, especially in children in good general condition and with preservation of weight and height development. 2. Laboratory findings are nonspecific. Additional tests do not reveal pathognomonic changes. 3. The evidence supporting an indication for surgical treatment (tonsillectomy with or without adenoidectomy), is based on two non-blinded randomized clinical trials with small numbers of patients. 4. The use of prednisone at the onset of fever in patients with PFAPA proved to be an effective strategy. There is still need for more qualified evidence to support its use in patients with PFAPA. 5. Despite promising results obtained in studies with IL-1β inhibitors, such studies are limited to a few case reports.

Neutropenia grave secundaria al tratamiento médico de una adenitis por micobacterias no tuberculosas / Severe neutropenia as side effect of medical treatment in nontuberculous mycobacterial adenitis

Non-tuberculous mycobacterial adenitis is getting more common in our environment. Epidemiologic studies and clinical trials published nowadays are limited. We present a 2-years-old boy diagnosed of Mycobacterium intracellulare adenitis and severe neutropenia as side effect of combined treatment with oral azythromycin and rifabutin, which recovers after suspending the second one. Liver metabolism of macrolide seems to increase other drugs toxicity, in this case, rifabutin. The patient eventually needed surgery due to persistence of the adenitis despite treatment with antibiotics.

Las adenopatías por micobacterias no tuberculosas (AMNT) son cada vez más frecuentes en nuestro medio. Los estudios epidemiológicos y ensayos clínicos controlados publicados hasta la fecha son escasos. Presentamos el caso de un niño de 2 años con el diagnóstico de una adenitis por Mycobacterium intracellulare que desarrolló una neutropenia grave secundaria a la terapia combinada de azitromicina y rifabutina oral. La metabolización hepática de los macrólidos parece aumentar la toxicidad de otros fármacos, en este caso, la rifabutina. Finalmente, al paciente se le realizó una exéresis quirúrgica por persistencia de la adenitis a pesar de la antibioterapia.

Enfermedad granulomatosa crónica: tres casos clínicos con diferentes formas de presentación / Chronic granulomatous disease: three cases with different presentations

Introducción: La enfermedad granulomatosa crónica (EGC) es una forma infrecuente de inmunodeficiencia primaria que se caracteriza por una sensibilidad anormal a infecciones bacterianas y fúngicas, debida a un déficit en el complejo nicotinamida adenina dinucleótida fosfato oxidasa (NADPH) en los fagocitos. Objetivo: Describir tres casos de EGC con énfasis en su forma de presentación y realizar una revisión del tema. Casos Clínicos: Se presentan tres casos clínicos, dos de ellos con relación de parentesco (primos en primer grado). Se llegó a diagnóstico molecular en uno de los casos. Se destacan las manifestaciones clínicas: infecciones recurrentes, abscesos, adenitis y granulomas, y complicaciones, con la finalidad de facilitar la sospecha diagnóstica de EGC, debido a la importancia del diagnóstico temprano y el consejo genético. Conclusiones: La EGC es un trastorno inmunológico primario congénito infrecuente, con herencia ligada a X en su mayoría, pero también con formas autosómicas recesivas, con una forma de presentación característica y cuyo diagnóstico debe ser oportuno para evitar complicaciones, realizar profilaxis y tratamiento agresivo de las infecciones y consejo genético.

Introduction: Chronic granulomatous disease (CGD) is a rare form of primary immunodeficiency disease, characterized by an abnormal susceptibility to bacterial and fungal infections, and it is caused by a deficit in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex (NADPH), resulting in the inability to generate reactive oxygen species that destroy micro-organisms. The diagnosis is based on clinical characteristics and analysis of phagocytes, and later confirmed by molecular studies. Its management should consider antimicrobial prophylaxis, a search for infections and aggressive management of these. Objective: To describe three cases of CGD emphasizing their forms of presentation and to conduct a review of the condition. Case reports: Three case reports, two of them first cousins, are presented. Molecular diagnosis was reached in one of the cases. Recurrent infections, abscesses, adenitis, granulomas and complications are identified to facilitate the suspected diagnosis of CGD, bearing in mind the importance of early diagnosis and genetic counseling. Conclusions: EGC is a rare congenital primary immunodeficiency disorder, mostly with X-linked inheritance, autosomal recessive form, and a specific presentation form. Its diagnosis should be timely to avoid complications. Prophylaxis and aggressive treatment of infections should be performed, as well as genetic counseling.

Subcutaneous mucor zygomycosis with potential life-threatening visceral complication.

A mass in right supraclavicular fossa in a diabetic patient mimicking tuberculosis (TB) adenitis that ultimately proved to be subcutaneous zygomycosis. A high degree of clinical suspicion is needed for diagnosis especially when these lesions occur at typical sites for the more common indolent infections like TB. This case is being presented not only because of its rarity, but to emphasize the role of early diagnosis and appropriate treatment to prevent serious complications due to proximity to major structures. Fluconazole was used despite not being the ideal drug, solely due to cost constraints. Our patient responded well. However, we do emphasize that response to fluconazole is the exception rather than the rule.

Linfadenitis por mycobacterium incluyendo pacientes infectados por el virus de inmunodeficiencia humana / Mycobacterium lymphadenitis including patients infected with human inmunodefi

El género Mycobacterium provoca infecciones pulmonares y extrapulmonares, de estas últimas predomina la infección ganglionar. Mientras Mycobacterium tuberculosis es el agente causal más importante, en las últimas décadas aumenta la incidencia de otras especies micobacterianas que se han hecho prevalentes en los pacientes positivos al virus de la inmunodeficiencia humana (VIH +) tanto en países desarrollados como en vías de desarrollo. Durante el período enero 2007 hasta diciembre 2009 se procesó en nuestro laboratorio 6540 muestras, 210 muestras fueron obtenidas por biopsia ganglionar, precisamente este constituyó nuestro universo de estudio, 190 (90.4%) muestras se obtuvieron por exéresis quirúrgica, 20 (9.5%) por punción espirativa;17 procedían de pacientes VIH– (8.1%) y 193 procedentes de pacientes VIH+(91.9%). En solo 16 muestras (7.6%) el cultivo BAAR fue positivo; 4 procedentes de pacientes VIH– (25%) y 12 VIH+(75%). La clasificación e identificación micobacteriana demostró la presencia de Mycobacterium tuberculosis en 13 de los casos (81.25%), mientras Mycobacterium avium-intracellulare fue aislado en 3 (18.7%). En los pacientes inmunodeprimidos con linfadenopatía incluidos los pacientes VIH/sida, es muy importante la búsqueda activa de la presencia de BAAR como coinfección oportunista, donde Mycobacterium tuberculosis se mantiene como el agente infeccioso más frecuente, sin embargo la posibilidad de que otras especies micobacterianas también estén presentes no se debe descartar. Nuestro objetivo en este estudio como Laboratorio Nacional de Referencia de TB- Micobacterias fue lograr la caracterización etiológica de linfadenopatías en pacientes en que se sospechaba clínicamente la participación del género Mycobacterium.

Mycobacterium tuberculosis is the most important etiological agent producing pulmonary as well as extrapulmonary infection. During these last decades, the increase in the incidence of infection due to other mycobacteria species is evident. Lymphadenopathy is the most frequent extrapulmonary presentation form of Mycobacterium Genera infection among HIV positive patients either in developed or underdeveloped countries. The aim of this work is to analyze the results obtained during January 2007 - December 2009 in our laboratory. Two hundred ten tissue samples were studied; 190 (90.4%) samples were lymph node biopsied tissues and 20 (9.5%) samples were obtained by fine needle aspiration; 17 were from HIV - patients (8.1%) and 193 from HIV + (91.9%). A total of 16 (7.6%) samples produced a positive culture for BAAR, 4 VIH- (25%) and 12 VIH+ (75%). Classification and identification for mycobacteria confirmed Mycobacterium tuberculosis in 13 of the cases (81.25%), and Mycobacterium avium-intracellulare in three patients (18.7%). The present study once again confirms that BAAR culture has more sensitivity and specificity than histopathologhic studies have. Lymphadenopathy in immunosuppressed patients should by studied for the presence of an BAAR coinfection where M. tuberculosis is still the agent most frequently found, nevertheless, other species of Mycobacteria may be causing infection and should be searched for. Our objective as National Reference Laboratory of Tuberculosis and Mycobacterial was to obtain the etiological characterization of Mycobacterium lymphadenopathy in clinically suspect patients.

Síndrome de celulitis-adenitis inguinal por Streptococcus agalactiae / Cellulitis-adenitis syndrome inguinal Streptococcus agalactiae

Las infecciones de tejidos blandos en la infancia son producidas habitualmente por el Staphylococcus aureus pero, en los primeros meses de vida, el Streptococcus agalactiae (SGB) puede ser responsable de celulitis con afectación sistémica. El síndrome de celulitis-adenitis por SGB constituye una presentación infrecuente de la infección tardía causada por este germen. Las manifestaciones clínicas consisten en fiebre, mal estado general y signos inflamatorios locales. La localización más frecuente es la submaxilar, siendo excepcional la inguinal. Aportamos el caso de un paciente de 30 días de vida con fiebre, con una placa eritematosa y adenopatías en la zona inguinal derecha. En el hemocultivo se aisló SGB. El tratamiento inicial fue cloxacilina y cefotaxima parenterales cambiándose a las 48 horas, tras la recepción del hemocultivo, por cefotaxima y ampicilina. La evolución fue favorable. En niños menores de 3 meses, ante la presencia de celulitis y adenitis regional, debemos considerar al SGB como posible agente etiológico y contemplar la posibilidad de bacteriemia y afectación del sistema nervioso central para no diferir el tratamiento adecuado.

Soft-tissue infections in children are most often caused by Staphylococcus aureus but, in the first months of life, group B streptococcus (GBS) can be the etiologic agent of cellulitis with systemic involvement. Group B streptococcus cellulitis-adenitis syndrome is a rare form of late-onset disease for this germen. Clinical manifestations include fever and local inflammatory signs. Typical localization is submandibular but the inguinal form is exceptional. We present a case of a 30-day-old infant with fever, an erythematous plaque and lymphadenopathy in the right inguinal area. Blood culture was positive for GBS. Evolution was good with initial parenteral therapy with oxacylin and cefotaxime that was changed at 48 hours of treatment, after the blood culture reception, to ampicilin and cefotaxime. In cases of cellulitis and adenitis in infants during the first 3 months of life, GBS has to be considered the probable etiologic agent, and severe invasive disease has to be ruled-out in order to establish the appropriate antimicrobial therapy.

Linfadenomegalia superficial (LAS): Correlato clínico patológico en 154 pacientes del Hospital Nacional Cayetano Heredia, Lima, Perú / Superficial Lymphadenomegaly (SL): clinico-pathological correlation in 154 patients of the National Hospital Cayetano Heredia, Lima, Perú

Introducción: la linfadenomegalia superficial (LAS) son hallazgos clínicos frecuentes en la práctica médica que pueden ser las primeras manifestaciones de una enfermedad de trascendencia o de un síndrome clínico específico. Objetivo: realizar un correlato clínico-patológico en pacientes con LAS que acudieron por primera vez a la consulta médica sin un diagnóstico conocido. Materiales y Métodos: estudio prospectivo transversal en el que se incluyeron pacientes con linfoadenomegalia superficial (LAS) mayor de 1 centímetro con sospecha de TBC ganglionar. Se realizaron biopsias ganglionares, aspirados por aguja fina, test diagnósticos complementarios; del mismo modo se estructuró una clasificación histopatológica en la que fueron distribuidos los pacientes para luego correlacionarse con los hallazgos clínicos. Resultados: fueron evaluados 154 pacientes de los cuales 55 de 70 (45,5%), tuvieron diagnóstico de certeza para micobacteriosis ganglionar gracias a la histopatología sumada al cultivo. Treinta y uno (20,1%) tuvieron linfadenomegalia categorizada como inespecífica en la cual no se pudo hallar ninguna causa etiológica de enfermedad. En el resto de pacientes los hallazgos etiológicos fueron diversos entre los que destacaron la enfermedad por arañazo de gato, micosis ganlionares, sarcoma de Kaposi, linfomas, metástasis neoplásicas y sindrome retroviral agudo por VIH. Conclusión: las linfadenomegalias superficiales son valiosos signos para el diagnóstico clínico en muchas enfermedades a veces no sospechadas. El médico debe saber decidir cuando ordenar una biopsia ganglionar y como interpretar los resultados histopatológicos de la misma a fin de tener el mayor grado de certeza etiológica.

Introduction: enlargement of superficial lymph nodes is a frequent clinical finding which may be among the first evidences of a significant illness or of a specific clinical syndrome. Objective: exploring clinico-pathological relationships in patients consulting for the first time with a clinically detectable lymphadenopathy and no defined diagnosis. Materials and Methods: cross sectional prospective study including patients with clinically detectable lymphadenopathy (nodes over 1 cm in diameter) and often also suspicion of tuberculosis. Lymph node biopsies, fine needle aspirations, and other contributing diagnostic tests were performed. A histopathological classification was structured to arrange the information on the patients and to correlate laboratory findings with clinical ones. Results: patients recruited were 154; 55 (45.5%) out of 70 patients who had a tentative diagnosis of tuberculosis or other mycobacterial disease had it confirmed by histopathology and culture; 31 (20.1 %) patients had non-specific lymphadenopathy, with no definitive etiological findings. In the remainder of patients there were several different definitive diagnoses: cat-scratch disease, mycoses, Kaposi’s sarcoma, lymphomas, metastatic neoplasias and acute retroviral syndrome caused by HIV infection. Conclusion: lymphadenopathy is a valuable sign for clinical diagnosis of many sometimes unsuspected diseases. Physicians should know how to decide when to order a lymph node biopsy and how to interpret the resulting histopathological findings, to improve diagnostic certainty.

A case of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome / 소아과

PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome is one of the causes of periodic fever in pediatrics with unknown etiology. It is characterized by abrupt onset of fever, malaise, aphthous stomatitis, pharyngitis and cervical adenitis without long-term sequelae. Laboratory findings of this sporadic and nonhereditary syndrome are so non-specific that the diagnosis is based on clinical findings. Oral prednisolone is quite effective in controlling the symptoms. We report a case of a 6-year-old girl who was diagnosed as having PFAPA syndrome after 2 years of episodes, by excluding other disease entities with similar clinical features. The patient was treated with oral prednisolone and her symptoms improved dramatically.

TBC extrapulmonar (ganglionar): a propósito de un caso / Extrapulmonary TBC (ganglionic): a purpose of a case

La tuberculosis es una enfermedad infectocontagiosa producida por bacilos aerobios que pertenecen al complejo mycobacterium tuberculosis, enfermedad, que afecta habitualmente a los pulmones, aunque en la tercera parte de los casos existe también afectación de otros órganos denominándose TBC extrapulmonar, su transmisión se produce habitualmente por la desiminación a través del aire de pequeñas gotas respiratorias producidas por los pacientes con tuberculosis pulmonar infecciosa. Actualmente la mayoría de las adenitis tuberculosas son manifestación postprimaria de la infección por este agente, ya sea por una diseminación linfática o hematógena; apareciendo como tumefacción indolora y unilateral de los ganglios con afectación más frecuente a nivel cervical, así como regiones parotídeas, submandibular, supraclavicular, axilar; puede ser confundida con diversos procesos infecciosos y enfermedades neoplásicas como linfomas o carcinoma metastásico; los que se utilizan en el tratamiento son la isoniciada, rifampicina, estambutol, pirazinamida y estreptomicina. El caso que se presenta a continuación es un paciente masculino de 17 años quien consulta a especialista por presentar de 1 año de evolución aumento de volumen en región axilar izquierda, no teniendo antecedentes personales ni familiares importantes, el cual fue tratado al ingreso como lipoma axilar por lo que fue intervenido para su exéresis, al momento de su intervención se evidencia ocupación de toda la cadena ganglionar axilar izquierda estableciéndose otros diagnósticos diferenciales como Linfoma Tipo Hodgkin y TBC ganglionar, lo cual se comprobó por prueba PPD positiva y con la biopsia que reporto: granulomas de TBC ganglionar de ganglio axilar izquierdo. Por lo cual se mantiene bajo control en la consulta de neumotisiología iniciando tratamiento antituberculoso en 2 esquemas y luego de la segunda fase cumplida se decide alta médica por mejoría clínica.