Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis.

We report the case of a 27-year-old man presenting with slowly progressive extrapyramidal dysfunction and learning disability considered to have a syndromic intellectual disability. The re-evaluation of the clinical features and the investigations performed led to the diagnosis of atypical pantothenate kinase-associated neurodegeneration (PKAN). LEARNING POINTS: Patients with an intellectual disability should be carefully evaluated.In the evaluation of a patient with extrapyramidal dysfunction for several years, with gradual progression, spasticity and psychiatric disturbances, PKAN should be considered.

Tuberculosis as a Cause of Rapid Salivary Gland Swelling in the Elderly - A Case Report.

A 77-year-old man was admitted to the internal medicine department for a 5-day history of progressive preauricular swelling. Two lines of antibiotic treatment failed to achieve any improvement. Fine needle aspiration cytology was conducted and smear staining with the Ziehl-Neelsen stain as well as a PCR test were positive for Mycobacterium tuberculosis. These results were confirmed with culture of the sample. A diagnosis of tuberculosis parotitis was made and anti-tuberculous drugs were initiated. LEARNING POINTS: In patients not responding to usual antibiotic treatment, other rare causes of parotitis should be suspected.Fine needle aspiration cytology was an important procedure in establishing the diagnosis.

Presentación de la fiebre Q simulando leptospirosis grave / Presentation of Q fever simulating severe leptospirosis

La fiebre Q aguda es una zoonosis ubicua, que habitualmente se presenta con cuadros febriles autolimitados. En presencia de un cuadro séptico con manifestaciones de disfunción multiórgano, hepatitis colestásica, distres respiratorio o la insuficiencia renal como semiología dominante y cultivos negativos se piensa habitualmente en leptospirosis. La alta prevalencia de fiebre Q en el Servicio de Medicina Interna del Hospital Universitario de Gran Canaria Doctor Negrín, que ha requerido evaluación hospitalaria -unos 50 casos al año en un área de 400 000 habitantes-, motivó la realización de serología para fiebre Q y leptospirosis en presencia de cuadros sépticos con cultivos negativos. De manera que se han encontrado durante los seis últimos años, tres casos de fiebre Q simulando leptospirosis. La rápida respuesta a la asociación de esteroides y doxiciclina ha sido el común denominador de estos tres casos. El contexto global con la rápida respuesta al tratamiento expuesto es el motivo de esta presentación(AU)

Acute Q fever is a ubiquitous zoonosis which often presents with self-limited febrile episodes. In the presence of a septic episode with manifestations of multiple organ dysfunction, cholestatic hepatitis, respiratory distress or renal failure as the prevailing semiology, and negative culture results, leptospirosis is usually suspected. The high prevalence of Q fever cases requiring evaluation at the Internal Medicine Service of Doctor Negrín University Hospital in Gran Canaria -about 50 cases per year in an area of 400 000 inhabitants- led to the indication of serological tests for Q fever and leptospirosis in septic cases with negative culture results. In the last six years, three cases have been found of Q fever simulating leptospirosis. A rapid response to the association of steroids and doxycycline was the common feature of these three cases. The study was aimed at describing the global context of the rapid response to the treatment indicated(AU)

[Primary hyperaldosteronism in a population of hypertensive patients]. / Hiperaldosterismo primario en una población de pacientes hipertensos.

The diagnosis of primary hyperaldosteronism (PHPA) has progressively increased over the last years and some authors consider it as the main cause of secondary hypertension. We studied the prevalence of PHPA in hypertensive patients followed at the Hypertension Unit from July 1999 to July 2017. A total of 2500 patients were included and diagnosis of PHPA was done in 79 of them (3.2%). It was more frequent in women (55.7%) with an increased incidence in the elderly, as compared to previous studies (27.8%). Initial diagnosis was suspected upon the presence of inappropriate kaliuria and metabolic alkalosis, associated to an aldosterone/plasma renin activity ratio > 30 (ng/dl)/(ng/ml/h). After confirmation of the presence of PA, imaging techniques to determine the etiology were performed. In this way, 29 cases (36.8%) of aldosterone-producing adenoma and 5 cases of bilateral adrenal hyperplasia with nodules were identified. Computed tomography identified the adenomas and hyperplasias with bilateral cortical nodules in all patients. Adrenalectomy and/or antialdosteronics were efficient in controlling blood pressure in 69.9% of cases. Of note in this series was the remission of stage 3 chronic renal failure in two cases, the high prevalence of hypercalciuric urinary lithiasis and a case of breast carcinoma after prolonged treatment with spironolactone.

El diagnóstico de hiperaldosteronismo primario (HPAP) aumentó en los últimos años y algunos autores lo consideran la principal causa de hipertensión arterial secundaria. Estudiamos la prevalencia de HPAP en el total de pacientes hipertensos atendidos en la Unidad de Hipertensión Arterial, en el período comprendido entre julio 1999 a julio 2017. Se incluyeron 2500 pacientes y en 79 se diagnosticó HPAP (3.2%). El HPAP fue más frecuente en mujeres (55.7%), observándose un incremento en la edad geriátrica con relación a estudios previos (27.8%). El diagnóstico se sospechó ante la presencia de kaliuria inapropiada y alcalosis metabólica, acompañada de un cociente aldosterona/actividad de renina plasmática superior a 30 (ng/dl)/(ng/ml/h). Tras su confirmación se realizaron estudios de imagen para determinar la etiología. Se detectaron así 29 casos (36.8%) de adenomas productores de aldosterona y 5 de hiperplasia bilateral suprarrenal con nódulos. La tomografía computarizada identificó el 100% de los adenomas y de las hiperplasias con nódulos corticales bilaterales. El tratamiento con suprarrenalectomía y/o antialdosterónicos resultó eficaz en el control de la presión arterial en el 69.9% de los casos. Se comentan aspectos particulares de esta serie, como la remisión de la insuficiencia renal, la elevada presencia de litiasis urinaria hipercalciúrica y la detección de un carcinoma de mama tras dosis prolongadas de espironolactona.

Hiperaldosteronismo primario en una población de pacientes hipertensos / Primary hyperaldosteronism in a population of hypertensive patients

El diagnóstico de hiperaldosteronismo primario (HPAP) aumentó en los últimos años y algunos autores lo consideran la principal causa de hipertensión arterial secundaria. Estudiamos la prevalencia de HPAP en el total de pacientes hipertensos atendidos en la Unidad de Hipertensión Arterial, en el período comprendido entre julio 1999 a julio 2017. Se incluyeron 2500 pacientes y en 79 se diagnosticó HPAP (3.2%). El HPAP fue más frecuente en mujeres (55.7%), observándose un incremento en la edad geriátrica con relación a estudios previos (27.8%). El diagnóstico se sospechó ante la presencia de kaliuria inapropiada y alcalosis metabólica, acompañada de un cociente aldosterona/actividad de renina plasmática superior a 30 (ng/dl)/(ng/ ml/h). Tras su confirmación se realizaron estudios de imagen para determinar la etiología. Se detectaron así 29 casos (36.8%) de adenomas productores de aldosterona y 5 de hiperplasia bilateral suprarrenal con nódulos. La tomografía computarizada identificó el 100% de los adenomas y de las hiperplasias con nódulos corticales bilaterales. El tratamiento con suprarrenalectomía y/o antialdosterónicos resultó eficaz en el control de la presión arterial en el 69.9% de los casos. Se comentan aspectos particulares de esta serie, como la remisión de la insuficiencia renal, la elevada presencia de litiasis urinaria hipercalciúrica y la detección de un carcinoma de mama tras dosis prolongadas de espironolactona.

The diagnosis of primary hyperaldosteronism (PHPA) has progressively increased over the last years and some authors consider it as the main cause of secondary hypertension. We studied the prevalence of PHPA in hypertensive patients followed at the Hypertension Unit from July 1999 to July 2017. A total of 2500 patients were included and diagnosis of PHPA was done in 79 of them (3.2%). It was more frequent in women (55.7%) with an increased incidence in the elderly, as compared to previous studies (27.8%). Initial diagnosis was suspected upon the presence of inappropriate kaliuria and metabolic alkalosis, associated to an aldosterone/plasma renin activity ratio > 30 (ng/dl)/(ng/ml/h). After confirmation of the presence of PA, imaging techniques to determine the etiology were performed. In this way, 29 cases (36.8%) of aldosterone-producing adenoma and 5 cases of bilateral adrenal hyperplasia with nodules were identified. Computed tomography identified the adenomas and hyperplasias with bilateral cortical nodules in all patients. Adrenalectomy and/o r antialdosteronics were efficient in controlling blood pressure in 69.9% of cases. Of note in this series was the remission of stage 3 chronic renal failure in two cases, the high prevalence of hypercalciuric urinary lithiasis and a case of breast carcinoma after prolonged treatment with spironolactone.

[Constitutional syndrome: clinical entity or a mixed bag]. / Síndrome constitucional: entidad clínica o cajón de sastre.

Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.

Bajo el término de síndrome constitucional se engloba la manifestación de astenia, anorexia y pérdida involuntaria de peso. Por separado o juntas, estas manifestaciones acompañan a muchas enfermedades cuyo diagnóstico se formula por otros síntomas y signos específicos. Sin embargo, en ocasiones, son el motivo principal de consulta, sin que el paciente refiera otros datos orientadores. Ello obliga a indagar de forma rigurosa las posibles causas del trastorno. Por lo general coexisten las tres manifestaciones (astenia, anorexia y pérdida de peso), pero a veces solo existe una o dos. Las causas del síndrome constitucional son variadas, pero en una primera aproximación pueden dividirse en tres grandes grupos: psiquiátricas, neoplásicas y orgánicas no neoplásicas. Generalmente la identificación etiológica se realiza con un protocolo sencillo que descarta neoplasia; algunos casos de etiología incierta se correlacionan con enfermedades médicas de buen pronóstico o con procesos funcionales. Aunque no existen guías de estudio, se han creado tablas de puntuación que ayudan a la valoración etiológica. Dada la miríada de causas de naturaleza diversa, el tratamiento del síndrome constitucional depende básicamente de su etiología.

Anti-albuminuric effects of the angiotensin AT1 receptor blocker telmisartan in hypertensive patients.

We evaluated the anti-hypertensive and anti-albuminuric effect of the angiotensin receptor blocker telmisartan alone and in combination with torasemide and amlodipine. Patients were hypertensive, both diabetics and non-diabetics with persistent microalbuminuria. Our primary endpoint was a change in microalbuminuria levels, while the secondary endpoints were changes in systolic blood pressure (SBP), diastolic blood pressure (DBP), serum creatinine levels, and glomerular filtration rate.After the 16-week treatment period, the patients significantly reduced microalbuminuria levels (76.4 ± 52.4 µg/min; p < 0.001), SBP (16.4 ± 8.7 mmHg; p < 0.001) and DBP (17.7 ± 5.9 mmHg; p < 0.001). Both diabetics and non-diabetics showed an identical pattern of significance with respect to the whole population. Systolic blood pressure, DBP, and microalbuminuria were significantly reduced as a consequence of therapy, both in diabetics and non-diabetics.

Hepatitis colestática grave por fiebre Q: presentación de un caso / Severe cholestatic hepatitis due to Q fever: Report of a case

La hepatitis colestática grave por Coxiella burnetii es una forma rara de presentación clínica de la fiebre Q aguda, que se detecta muy ocasionalmente en relación con esta enfermedad infecciosa. Se presenta un caso de hepatitis colestática grave por fiebre Q aguda, con clínica de insuficiencia hepática, marcada colestasis e insuficiencia renal. El estudio serológico inicial por fijación de complemento fue negativo en 2 ocasiones, y se precisó de la ayuda de la biopsia transyugular y de la serología por inmunofluorescencia indirecta para el diagnóstico. A pesar del tratamiento con doxiciclina y ciprofloxacino empeoró progresivamente la colestasis y aparecieron insuficiencia hepática y renal, que desaparecieron rápidamente tras tratamiento esteroideo (AU)

Severe cholestatic hepatitis due to Coxiella burnetii is a rare form of clinical presentation of acute Q fever that is only occasionally detected in association with this infectious disease. We report a case of severe cholestatic hepatitis due to acute Q fever, with clinical signs of hepatic insufficiency, marked cholestasis, and renal insufficiency. The results of the initial serologic study using a complement fixation test were negative on two occasions, and transjugular biopsy and serological analysis with indirect immunofluorescence were required to establish the diagnosis. Despite treatment with doxycycline and ciprofloxacin, the cholestasis progressively worsened, with the development of hepatic and renal insufficiency, which rapidly disappeared after corticosteroid treatment (AU)

[Severe cholestatic hepatitis due to Q fever: report of a case]. / Hepatitis colestática grave por fiebre Q: presentación de un caso.

Severe cholestatic hepatitis due to Coxiella burnetii is a rare form of clinical presentation of acute Q fever that is only occasionally detected in association with this infectious disease. We report a case of severe cholestatic hepatitis due to acute Q fever, with clinical signs of hepatic insufficiency, marked cholestasis, and renal insufficiency. The results of the initial serologic study using a complement fixation test were negative on two occasions, and transjugular biopsy and serological analysis with indirect immunofluorescence were required to establish the diagnosis. Despite treatment with doxycycline and ciprofloxacin, the cholestasis progressively worsened, with the development of hepatic and renal insufficiency, which rapidly disappeared after corticosteroid treatment.

[Contributions of the ambulatory blood pressure monitoring to the values measured at the medical office]. / Aportaciones de la monitorización ambulatoria a la presión arterial casual.

OBJECTIVE: To communicate our experience with this technique centred in the definition of the patterns and the peculiar characteristics of the rising pattern. METHODS: During a four year period, the ambulatory blood pressure monitoring was obtained in 500 hypertensive patients with difficult to control blood pressure or of recent detection, following the guide of the Cardiorisk project. RESULTS: The most frequent pattern observed was non-dipper (46.6%). The pulse pressures obtained by ambulatory and office blood pressure monitoring kept a correlation that serve as guide to the office blood pressure measurements. The level of control by ambulatory monitoring blood pressure is only discretely superior to the office blood pressure if the cases of white coat and masked hypertension are considered. The rising pattern is associated to a major vascular risk. CONCLUSIONS: An increased vascular risk is noticed in the rising pattern with respect to other patterns. The morphology of different atypical patterns was also presented. The help of the ambulatory blood pressure monitoring along with one taken in the office determined a great aid to interpret the huge variability of the arterial pressure.

Espondilodiscitis por Enterococcus faecalis: análisis de un caso / Spondylodiscitis due to Enterococcus faecalis: a case report

Un varón de 85 años ingresó en nuestro hospital para valoración de lumbalgia invalidante de 2 meses de evolución. Tenía antecedentes de lumbalgia recidivante, hepatopatía crónica por el virus C de la hepatitis y diabetes mellitus tipo 2. Se observó por técnicas de imagen afección vertebral y discal, y en el cultivo del material aspirado a nivel discal creció Enterococcus faecalis, que también fue demostrado en hemocultivos, con idénticas características fenotípicas. Tras 6 semanas de tratamiento parenteral, corsé y fisioterapia experimentó progresiva mejoría, y se lo siguió ambulatoriamente. Se comenta la rareza de E. faecalis como agente etiológico de la espondilodiscitis, lo que condiciona actitudes terapéuticas basadas en las orientaciones microbiológicas aplicadas a otras formas más frecuentes de etiología piógena y según antibiograma

An 85-year-old man was admitted to our hospital for evaluation of disabling low back pain with onset 2 months previously. The patient had a history of recurrent lower back pain, hepatitis C virus infection and type 2 diabetes. Imaging techniques showed vertebral and discal involvement. Culture of the aspirated discal specimen revealed Enterococcus faecalis, which was also found in blood cultures, with the same phenotypic characters. After 6 weeks of parenteral antibiotics, bracing and physical therapy, the patient progressively improved and was followed-up on an outpatient basis. E. faecalis is a rare cause of spondylodiscitis, which may lead to this etiological agent being overlooked in favor of other more frequent etiologic agents

Carotenodermia en lugar de xantomatosis / Carotenodermia instead of xantomatosis

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Anotaciones acerca del caso clínico del carcinoma adrenal con hipopotasemia / Thoughts on the clinical report of the case of suprarenal carcinoma and hypokaliemia

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Mastopatía diabética: anotaciones a un caso clínico / Diabetic mastopathy: considerations of a case report

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