Tumor inflamatorio de Pott en escolar de 7 años: a propósito de un caso

El tumor inflamatorio de Pott (PPT) es una osteomielitis del hueso frontal con un absceso subperióstico concomitante, principalmente secundario a sinusitis frontal complicada. Es infrecuente, pero puede tener consecuencias fatales debido a su alta asociación con complicaciones intracraneales. Presentamos el caso de una escolar de 7 años sin antecedentes, que consulta en el Servicio de Urgencia por un cuadro de 5 semanas de rinorrea mucopurulenta derecha y aumento de volumen frontal progresivo, habiendo recibido antibioticoterapia sin respuesta. Se realizan neuroimágenes que confirman el diagnóstico de rinosinusitis aguda fronto-etmoidal complicada con absceso subperióstico frontal compatible con PPT, asociado a un absceso epidural. Se manejó con antibiótico endovenoso prolongado y aseo quirúrgico mediante craniectomía por abordaje bi-coronal con drenaje de ambas colecciones y reconstrucción de base de cráneo con colgajo de pericráneo, evolucionando favorablemente. El diagnóstico del tumor inflamatorio de Pott es clínico y radiológico, siendo el aumento de volumen frontal el signo cardinal. La tomografía computarizada es útil para establecer el diagnóstico diferencial con otras entidades y la resonancia magnética permite con mayor sensibilidad y especificidad detectar complicaciones intracraneales. El tratamiento es médico y quirúrgico mediante antibioticoterapia endovenosa y aseo quirúrgico oportuno.

Pott's inflammatory tumor is an osteomyelitis of the frontal bone with a concomitant subperiosteal abscess, mainly secondary to complicated frontal sinusitis. It is rare entity but may have fatal consequences due to its high association with intracranial complications. We present the case of a healthy 7-year-old girl who presented to the emergency department with a 5-week history of mucopurulent right rhinorrhea and progressive forehead swelling without response to oral antibiotic therapy. Neuroimaging confirms the diagnosis of acute frontoethmoidal rhinosinusitis complicated with frontal subperiosteal abscess compatible with PPT and an epidural abscess. She received prolonged intravenous antibiotics for six weeks and surgical treatment with craniectomy by bi-coronal approach with drainage of both collections and reconstruction of the skull base with pericranial flap, progressing favorably. The diagnosis of Pott's inflammatory tumor is clinical and radiological. The increased frontal volume is the cardinal sign, and computed tomography is the image of choice, which is also helpful in establishing the differential diagnosis with other entities. Magnetic resonance imaging is practical, given its greater sensitivity and specificity to detect intracranial complications. Treatment is imperative and is based on adequate antibiotic therapy and prompt surgical debridement.

Quiste subglótico adquirido como causa inhabitual de estridor en pediatría. Revisión de la literatura a propósito de un caso / Subglottic cyst as an unusual cause of stridor in pediatric patients. Literature review and case report

El estridor corresponde a un signo altamente frecuente, sin embargo, es heterogéneo e inespecífico. Existen múltiples causas conocidas y manejadas por el otorrinolaringólogo. Los quistes subglóticos constituyen una entidad infrecuente de estridor en pediatría, siendo la población más frecuentemente afectada, niños con antecedentes de prematurez e intubación por períodos prolongados. Su manifestación clínica es variada, desde cuadros asintomáticos a pacientes con riesgo inminente de pérdida de la vía aérea. El diagnóstico suele ser tras largos períodos desde el antecedente de intubación. Su resolución suele ser quirúrgica, teniendo como principal complicación asociada la estenosis subglótica y las recurrencias. Se presenta el caso de una preescolar con un episodio de estridor y distrés respiratorio rápidamente progresivos, cuyo diagnóstico intraoperatorio resultó en quistes subglóticos submucosos bilaterales, que requirieron resolución quirúrgica.

Stridor corresponds to a highly frequent sign; however, it is heterogeneous and nonspecific. There are multiple causes that are widely known and managed by the otorhinolaryngolo-gist. Subglottic cysts are an infrequent entity of stridor in pediatric patients, where the most frequently affected population are childrens with history of prematurity and intubation for long periods. It's clinical manifestations are wide, from asymptomatic cases to patients with imminent risk of airway loss. Their manifestation its often after long periods after the moment of intubation. The management often involves surgery, and the main associated complication is subglottic stenosis and recurrences. We present the case of a preschool girl with an episode of rapidly progressive stridor and respiratory distress; whose intraoperative diagnosis was bilateral subglottic submucosal cysts that required surgical resolution.

Tirotoxicosis por enfermedad trofoblástica gestacional: revisión a partir de 3 casos / Thyrotoxicosis due to gestational trophoblastic disease: clinical cases

La enfermedad trofoblástica gestacional (ETG) es una complicación del embarazo poco común. Corresponde a un espectro de lesiones proliferativas del tejido trofoblástico: Mola Hidatiforme (MH) en sus formas parcial y completa, Coriocarcinoma, Tumor Trofoblástico y Tumor Trofoblástico Epiteloide. Los distintos tipos de ETG presentan en común la hipersecreción de gonadotrofina coriónica humana (hCG). La hCG es una hormona glicoproteica con una estructura muy similar a la TSH, por lo cual puede estimular la función tiroidea en condiciones fisiológicas y en algunas condiciones patológicas. La ETG puede cursar con hipertiroidismo, el cual puede variar en intensidad, desde una presentación asintomática con alteración leve de hormonas tiroideas a un cuadro de hipertiroidismo manifiesto. Se presentan 3 casos clínicos de pacientes con ETG, específicamente MH que evolucionaron con tirotoxicosis transitoria. Los casos presentaron un cuadro leve de hipertiroidismo con pocos síntomas asociados. La taquicardia fue el único síntoma en la mayoría de los casos. En todas las pacientes las hormonas tiroideas se normalizaron después del tratamiento de la ETG. Conclusión: Se debe tener presente la posibilidad de hipertiroidismo en toda paciente con ETG. Un alto nivel de sospecha permitirá identificar a aquellas pacientes que cursen con hipertiroidismo, permitiendo así un diagnóstico y tratamiento oportuno.

Gestational trophoblastic disease (GTD) is a rare complication of pregnancy. GTD includes a group of proliferative lesions of trophoblastic tissue: partial and complete hydatidiform mole, choriocarcinoma, epithelioid trophoblastic tumor, and placental site trophoblastic tumor. The different types of GTD have in common the hypersecretion of human chorionic gonadotropin (hCG). HCG is a glycoprotein hormone with a similar structure to TSH. In physiological and pathological conditions hCG can stimulate thyroid function. GTD can present with hyperthyroidism, which can vary in intensity, from an asymptomatic presentation with mild alteration of thyroid hormones to a manifest hyperthyroidism. We present 3 clinical cases of patients with GTD thyrotoxicosis. All cases presented mild hyperthyroidism. Tachycardia was the only symptom in most cases. In all patients thyroid hormones return to normal after treatment of GTD. Conclusion: In patients with GTD the possibility of hyperthyroidism should be kept in mind. A high level of suspicion will allow to identifying patients with hyperthyroidism.

Hipertiroidismo en personas mayores de 65 años: serie de casos de un hospital universitario / Thyrotoxicosis in the elderly: case series report from a university hospital

Introducción: En Chile en las últimas décadas ha aumentado la población de personas mayores de 65 años. La tirotoxicosis en este grupo está asociada a complicaciones como fibrilación auricular (FA), insuficiencia cardiaca (ICC), osteoporosis y aumento de la mortalidad. En algunos casos puede presentarse con síntomas no específicos, cuadro conocido como hipertiroidismo apático. Objetivos: Evaluar las características clínicas de la tirotoxicosis en personas mayores. Método: Serie de casos retrospectiva. Se analizaron fichas clínicas de pacientes mayores de 65 años con el diagnóstico de tirotoxicosis controlados en nuestro centro entre enero de 2012 y mayo de 2018. Resultados: En el periodo estudiado 54 pacientes fueron diagnosticados de tirotoxicosis. Se excluyen 4 por datos incompletos. El 80% corresponden a mujeres. La mediana de edad fue 71 años (rango 65-94), sin diferencias por género (p=0,61). La etiología más frecuente fue enfermedad de Graves (EG) en 64%, seguido por bocio multinodular hiperfuncionante en 20%, adenoma tóxico en 10% y asociada a fármacos en 6%. De los pacientes con EG, 28% presentó orbitopatía distiroidea (OD) clínicamente evidente. Un 30% se diagnosticó en contexto de baja de peso, deterioro cognitivo o patología cardiovascular, sin presentar síntomas clásicos de hipertiroidismo. Un 16% presentó FA, 14% ICC y 6% fractura osteoporótica. El 28% fue diagnosticado durante una hospitalización o requirió ser hospitalizado durante los meses siguientes. Los mayores de 75 años presentan una mayor probabilidad de hipertiroidismo apático (OR 5,1, IC95% 1,15-22,7 p=0,01). Además, las complicaciones aumentan en mayores de 75 años, encontrándose en este grupo todos los casos de FA. Conclusiones: La etiología más común de tirotoxicosis fue la EG, a diferencia de lo reportado en otras poblaciones. Un número importante de pacientes debutó sin síntomas clásicos de hipertiroidismo, principalmente mayores de 75 años, por lo que se debe tener una alta sospecha en este grupo etario.

Introduction: Hyperthyroidism in the elderly can produce severe complications such as atrial fibrillation (AF), heart failure (CHF) and osteoporosis. In the elderly, thyrotoxicosis may have only nonspecific symptoms, known as apathetic hyperthyroidism. Objective: To evaluate the clinical characteristics of thyrotoxicosis in the elderly. Methods: Retrospective case series. We reviewed clinical records of patients with thyrotoxicosis older than 65 years, between January 2012 and March 2019. Results: During this period, 54 patients were diagnosed with thyrotoxicosis. Four patients were excluded due to incomplete data. 80% were women. The average age was 73 years (range 65-94), without age difference between gender (p=0,61). The most frequent etiology was Graves' disease in 64%. Hyperfunctioning multinodular goiter was confirmed in 20%, toxic adenoma in 10% and drug-associated in 6%. Twenty eight percent of Graves' disease patients had dysthyroid orbitopathy. Thirty percent presented as apathetic hyperthyroidism. Sixteen percent of the patients presented AF, 14% CHF, and 6% osteoporotic fracture. Twenty-eight percent were diagnosed during hospitalization or required hospitalization in the following months. Those older than 75 years had a greater probability of presenting apathetic hyperthyroidism (OR 5.1, 95% CI 1.15- 22.7 p=0.01). Complications increase in this age group, with all cases of AF. Conclusions: The most common etiology of thyrotoxicosis in this group was GD. This differs from other populations. A significant number of patients presented without classic symptoms of hyperthyroidism, especially in people older than 75 years. Special attention should be paid to atypical symptoms of hyperthyroidism in this group.

Diabetes mellitus in older men.

Most persons with diabetes mellitus are over the age of 60 years. Males develop diabetes more commonly than females. Older diabetics tend to have both impaired insulin release as well as insulin resistance. In older persons diabetes mellitus is associated with decreased functional status and cognitive dysfunction. In general, older persons with diabetes are inclined to be underdiagnosed and undertreated. Managing diabetes in older persons requires special considerations because of their differences in pathophysiology of diabetes and strong association with functional, cognitive impairments and comorbidities. The use of strict therapeutic diets is not recommended in older persons. Treatment of hypertension and hyperglycemia can improve outcomes in older persons. The interdisciplinary team approach is important for care of older diabetic persons.

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

Cerebral cavernous malformation (CCM) is a Mendelian model of stroke, characterized by focal abnormalities in small intracranial blood vessels leading to hemorrhage and consequent strokes and/or seizures. A significant fraction of cases is inherited as an autosomal dominant trait with incomplete penetrance. Among Hispanic Americans, virtually all CCM is attributable to a founder mutation localized to 7q ( CCM1 ). Recent analysis of non-Hispanic Caucasian kindreds, however, has excluded linkage to 7q in some, indicating at least one additional CCM locus. We now report analysis of linkage in 20 non-Hispanic Caucasian kindreds with familial CCM. In addition to linkage to CCM1, analysis of linkage demonstrates linkage to two new loci, CCM2 at 7p13-15 and CCM3 at 3q25.2-27. Multilocus analysis yields a maximum lod score of 14.11, with 40% of kindreds linked to CCM1, 20% linked to CCM2 and 40% linked to CCM3, with highly significant evidence for linkage to three loci (linkage to three loci supported with an odds ratio of 2.6 x 10(5):1 over linkage to two loci and 1.6 x 10(9):1 over linkage to one locus). Multipoint analysis among families with high posterior probabilities of linkage to each locus refines the locations of CCM2 and CCM3 to approximately 22 cM intervals. Linkage to these three loci can account for inheritance of CCM in all kindreds studied. Significant locus-specific differences in penetrance are identified. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the molecular basis of this disease.

Genetic heterogeneity of inherited cerebral cavernous malformation.

OBJECTIVE: Cerebral cavernous malformation (CCM) is frequently an inherited disorder showing autosomal dominant transmission. Genetic analysis has localized a gene causing CCM to a segment of the long arm of human chromosome 7 (7q). This evidence derives from investigation of a small number of families, mostly of Hispanic American descent. In this study, we have tested whether inherited CCM is always due to mutation in this 7q gene, or whether mutation in other genes can cause CCM. METHODS: We have studied subjects from two non-Hispanic families with inherited CCM. The clinical features of CCM in these families are indistinguishable from those in kindreds in which CCM is due to mutation in the 7q gene. To test whether CCM in these kindreds is caused by a mutation on 7q, we compared the inheritance of CCM to the inheritance of genetic markers on 7q. RESULTS: Genetic analysis demonstrates independent inheritance of CCM and markers on 7q in both families studied. This evidence excludes mutation in the 7q gene as the cause of CCM in these families, with odds against CCM being due to mutation in 7q in each family of more than 100,000:1 and 100:1, respectively. CONCLUSION: These findings demonstrate that inherited CCM is not always caused by a mutant gene on 7q, indicating the presence of at least a second gene in which mutation can cause CCM. These results have implications for genetic testing and the pathogenesis of this disorder.

Temporal and spatial dynamics of Ixodes scapularis (Acari: Ixodidae) in a rural landscape.

We studied seasonal, interannual, and both small- and large-scale spatial variation in the abundance of blacklegged ticks, Ixodes scapularis Say, in a semirural landscape in southeastern New York. Using transect drag sampling, we found that ticks were approximately twice as abundant in 1994 as in the preceding 2 yr. In 1994, larval ticks showed a strong peak in activity in late spring, coincident with the nymphal peak that year. All post-egg life stages were more abundant in forested than in shrubby or herbaceous habitat types, but peak abundance of larvae shifted from oak-dominated forest in 1992 to maple-dominated forest in 1993 and 1994. All life stages were highly clumped at small spatial scales, but larvae were the most aggregated. Within the forested habitat types, we observed an initial increase followed by a decrease in small-scale clumping during seasonal activity for each life stage. We discuss potential effects of the observed temporal and spatial variation on risk of Lyme disease. Because of pronounced variation in abundance and activity patterns among years and habitat types, we caution against generalizing from short-term or spatially limited studies.