Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa / Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis

Introducción: la xantomatosis cerebro-tendinosa (XCT) es una enfermedad autosómica recesiva producida por un déficit de la enzima 27-hidroxilasa. Como consecuencia, existe una deficiencia de ácido quenodeoxicólico y una sobreproducción de colestanol que se deposita en los tejidos. Clínicamente cursa con cataratas, diarrea, xantomas y diferentes síntomas neurológicos. A pesar de que los niveles de colestanol se emplean en el diagnóstico de la XCT, se desconoce su correlación con la clínica y el pronóstico. Métodos: se han revisado 14 pacientes afectos de XCT, diagnosticados entre 1995 y 2008 en dos centros de referencia para el diagnóstico genético, en los que se había determinado el colestanol. Se han estudiado los principales datos demográficos, clínicos y terapéuticos y su posible relación con los niveles de colestanol. Resultados: la media de los niveles de colestanol al diagnóstico fue de 106μmol/ l. No se encontró ninguna relación entre el colestanol plasmático y los diferentes síntomas neurológicos, ni con el grado de discapacidad al diagnóstico medido mediante la EDSS. Tras la instauración del tratamiento se obtuvo una reducción significativa del colestanol plasmático en todos los casos (reducción media de 91μmol/ l en una media de 34 meses), a pesar de lo cual sólo un paciente se estabilizó clínicamente. Conclusiones: la presencia de niveles elevados de colestanol es muy útil para el diagnóstico de la XCT, pero no tiene valor pronóstico (no se correlaciona con la situación funcional). Su normalización no siempre se acompaña de una estabilización clínica, pero su monitorización puede ser útil para el ajuste del tratamiento (AU)

Introduction: cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase. Such a deficiency results in a reduced production of chenodeoxycholic acid and in an increased formation of cholestanol. It is clinically characterized by cataracts, diarrhoea, xanthomas, premature arteriosclerosis and a number of progressive neurological symptoms. Although cholestanol levels are used for the diagnosis of CTX, their correlation with the clinical symptoms and their prognostic usefulness have not been assessed so far. Methods: we reviewed 14 CTX patients diagnosed between 1995 and 2008 in two reference centres for the genetic diagnosis of this disorder, whose cholestanol levels had been recorded. We studied the main demographic, clinical and therapeutical data and their correlation with plasma cholestanol levels. Results: the average cholestanol level at diagnosis was 105.8μmol/l. These levels did not correlate with any neurological symptoms or with disability at diagnosis scored by the EDSS. After treatment, all patients achieved a significant reduction in plasma cholestanol levels (average reduction of 91μmol/l in an average follow-up of 34 months), although only one patient remained clinically stable. Conclusions: high cholestanol levels are very useful for diagnosis of CTX but they do not have a prognostic value (they do not correlate with severity). Normalisation of cholestanol levels is not always associated with clinical stabilisation. However, follow-up of cholestanol levels can be useful for the dose adjustment (AU)

Atributos psicométricos de la versión española de la escala de cribado A-TAC para trastornos del espectro autista / Psychometric attributes of the spanish version of A-TAC screening scale for autism spectrum disorders

Introducción: Actualmente debido a la ausencia de marcadores biológicos, el cribado de trastornos del espectro autista (TEA) se centra fundamentalmente en la presencia de alteraciones conductuales caracterizadas por alteraciones en la interacción social y comunicación verbal y no verbal. Objetivo: Evaluar los atributos psicométricos de la versión española de la escala de autismo Autism-Tics, AD/HD and other Comorbidities Inventory (A-TAC), como medida de cribado de TEA. Material y métodos: Se incluyó en el estudio a 140 escolares (43% niños, 57% niñas), de edades comprendidas entre los 6 y los 16 años, con TEA (n = 15), discapacidad intelectual (n = 40), enfermedades psiquiátricas (n = 22), tics (n = 12) y participantes controles (n = 51). Se analizaron los principales atributos psicométricos como la fiabilidad, asunción escalar, la consistencia interna, la precisión y la validez predictiva. Resultados: La consistencia interna de la A-TAC fue alta (α = 0,93) y el error estándar de medida fue adecuado (1,13 [intervalo de confianza del 95%, —1,08 a 3,34]). Las puntuaciones medias de la escala A-TAC fueron más altas en participantes diagnosticados con TEA y discapacidad intelectual comparadas con el resto de participantes (p < 0,001), siendo el área bajo la curva de 0,96 para el grupo de TEA. Conclusión: La subescala de autismo de la escala A-TAC es un instrumento fiable, válido y preciso para el cribado de TEA en la población escolar española (AU)

Background: As there are no biological markers for Autism Spectrum Disorders (ASD), screening must focus on behaviour and the presence of a markedly abnormal development or a deficiency in verbal and non-verbal social interaction and communication. Objective: To evaluate the psychometric attributes of a Spanish version of the autism domain of the Autism-Tics, AD/HD and other Comorbidities Inventory (A-TAC) scale for ASD screening. Material and methods: A total of 140 subjects (43% male, 57% female) aged 6-16, with ASD (n = 15), Mental Retardation (n = 40), Psychiatric Illness (n = 22), Tics (n = 12) and controls (n = 51), were included for ASD screening. The predictive validity, acceptability, scale assumptions, Internal consistency, and precision were analysed. Results: The internal consistency was high (α = 0.93), and the standard error was adequate (1.13 [95% CI, -1.08 a 3.34]). The mean scores of the Autism module were higher in patients diagnosed with ASD and mental disability compared to the rest of the patients (P < 0.001). The area under the curve was 0.96 for the ASD group. Conclusion: The autism domain of the A-TAC scale seems to be a reliable, valid and precise tool for ASD screening in the Spanish school population (AU)

[Psychometric attributes of the Spanish version of A-TAC screening scale for autism spectrum disorders]. / Atributos psicométricos de la versión española de la escala de cribado A-TAC para trastornos del espectro autista.

BACKGROUND: As there are no biological markers for Autism Spectrum Disorders (ASD), screening must focus on behaviour and the presence of a markedly abnormal development or a deficiency in verbal and non-verbal social interaction and communication. OBJECTIVE: To evaluate the psychometric attributes of a Spanish version of the autism domain of the Autism-Tics, AD/HD and other Comorbidities Inventory (A-TAC) scale for ASD screening. MATERIAL AND METHODS: A total of 140 subjects (43% male, 57% female) aged 6-16, with ASD (n=15), Mental Retardation (n=40), Psychiatric Illness (n=22), Tics (n=12) and controls (n=51), were included for ASD screening. The predictive validity, acceptability, scale assumptions, internal consistency, and precision were analysed. RESULTS: The internal consistency was high (α=0.93), and the standard error was adequate (1.13 [95% CI, -1.08 a 3.34]). The mean scores of the Autism module were higher in patients diagnosed with ASD and mental disability compared to the rest of the patients (P<.001). The area under the curve was 0.96 for the ASD group. CONCLUSION: The autism domain of the A-TAC scale seems to be a reliable, valid and precise tool for ASD screening in the Spanish school population.

[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]. / Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa.

INTRODUCTION: cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase. Such a deficiency results in a reduced production of chenodeoxycholic acid and in an increased formation of cholestanol. It is clinically characterized by cataracts, diarrhoea, xanthomas, premature arteriosclerosis and a number of progressive neurological symptoms. Although cholestanol levels are used for the diagnosis of CTX, their correlation with the clinical symptoms and their prognostic usefulness have not been assessed so far. METHODS: we reviewed 14 CTX patients diagnosed between 1995 and 2008 in two reference centres for the genetic diagnosis of this disorder, whose cholestanol levels had been recorded. We studied the main demographic, clinical and therapeutical data and their correlation with plasma cholestanol levels. RESULTS: the average cholestanol level at diagnosis was 105.8 µmol/l. These levels did not correlate with any neurological symptoms or with disability at diagnosis scored by the EDSS. After treatment, all patients achieved a significant reduction in plasma cholestanol levels (average reduction of 91 µmol/l in an average follow-up of 34 months), although only one patient remained clinically stable. CONCLUSIONS: high cholestanol levels are very useful for diagnosis of CTX but they do not have a prognostic value (they do not correlate with severity). Normalisation of cholestanol levels is not always associated with clinical stabilisation. However, follow-up of cholestanol levels can be useful for the dose adjustment.

Early treatment of obstructive apnoea and stroke outcome: a randomised controlled trial.

The aim of the present study was to assess the impact of nasal continuous positive airway pressure (nCPAP) in ischaemic stroke patients followed for 2 yrs. Stroke patients with an apnoea-hypopnoea index ≥ 20 events·h⁻¹ were randomised to early nCPAP (n = 71; 3-6 days after stroke onset) or conventional treatment (n = 69). The Barthel Index, Canadian Scale, Rankin Scale and Short Form-36 were measured at baseline, and at 1, 3, 12 and 24 months. The percentage of patients with neurological improvement 1 month after stroke was significantly higher in the nCPAP group (Rankin scale 90.9 versus 56.3% (p < 0.01); Canadian scale 88.2 versus 72.7% (p < 0.05)). The mean time until the appearance of cardiovascular events was longer in the nCPAP group (14.9 versus 7.9 months; p = 0.044), although cardiovascular event-free survival after 24 months was similar in both groups. The cardiovascular mortality rate was 0% in the nCPAP group and 4.3% in the control group (p = 0.161). Early use of nCPAP seems to accelerate neurological recovery and to delay the appearance of cardiovascular events, although an improvement in patients' survival or quality of life was not shown.

[Disseminated nodular primary localized cutaneous amyloidosis]. / Amiloidosis cutánea primaria localizada nodular con patrón diseminado.

Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodular amyloidosis is extremely rare, and there are notable differences in clinical presentation, prognosis, histology, and pathogenesis between this entity and the macular and lichenoid variants. We report a new case of nodular primary localized cutaneous amyloidosis with disseminated plaques and nodules in which no systemic disease developed in the 3 years following the appearance of the lesions.

Amiloidosis cutánea primaria localizada nodular con patrón diseminado / Disseminated nodular primary localized cutaneous amyloidosis

El amiloide es un material proteináceo que se deposita en los tejidos en una gran variedad de situaciones clínicas; en la piel puede ser hallado con o sin afectación sistémica concomitante. La amiloidosis cutánea primaria localizada designa a aquellas amiloidosis con afectación exclusivamente cutánea, sin afectación a otros niveles. Las formas más comunes dentro de este grupo son la amiloidosis macular y el liquen amiloideo. La amiloidosis nodular es extremadamente infrecuente y mantiene importantes diferencias clínicas, pronósticas, histológicas y patogénicas con respecto a las variantes macular y liquenoide. Presentamos un nuevo caso de amiloidosis cutánea primaria localizada nodular con placas y nódulos diseminados, que no desarrolló afectación sistémica tras tres años desde el debut de las lesiones (AU)

Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodular amyloidosis is extremely rare, and there are notable differences in clinical presentation, prognosis, histology, and pathogenesis between this entity and the macular and lichenoid variants. We report a new case of nodular primary localized cutaneous amyloidosis with disseminated plaques and nodules in which no systemic disease developed in the 3 years following the appearance of the lesions (AU)

Carcinoma cutáneo de células de Merkel. Presentación de un caso y revisión de la literatura / Cutaneous Merkel cell carcinoma. Case report and literature review

El carcinoma de células de Merkel, constituye una variedad infrecuentede cáncer cutáneo, de origen neuroendocrino, que clásicamentese describe, como la malignidad cutánea de peor pronóstico. Se originaa partir de las células de Merkel o receptores cutáneos de presión. Presentaun patrón infiltrativo dermo-linfático así como extensión linfática nodal ydiseminación hematógena. Presenta numerosas similitudes con el carcinomapulmonar de células pequeñas, con una sensibilidad intrínseca a laquimio-radioterapia y un gran potencial metastático. Los mejores resultadosse obtienen cuando se combina un diagnóstico precoz y el tratamientocombinado con cirugía- radio y quimioterapia. La principal dificultad quepresentan estos tumores es la avanzada edad de la población en que sepresentan y la localización de los mismos, que en ocasiones limitan lasopciones terapéuticas disponibles. Presentamos un caso de carcinoma decélulas de Merkel facial, tratado con cirugía y radioterapia. Se realiza unarevisión de la literatura (AU)

Merkel-cell carcinoma is a rare skin cancer ofneuroendocrine origin, which has been described as the mostaggressive skin malignancy. The tumor arises from the Merkel cells,or skin pressure receptors. It has an infiltrative growth pattern andspreads by the lymphatic vessels and blood. It is similar to small celllung carcinoma, with an intrinsic sensitivity to chemo-radiotherapyand a remarkable tendency to metastasize. The best treatmentoutcomes are obtained with early diagnosis and a combination ofsurgery, chemotherapy, and radiotherapy. A clinical case of Merkelcell carcinoma of the face treated with surgery and radiotherapy isreported and the literature is reviewed (AU)

Pápulas y nódulos violáceos en caras anteriores de manos / Violaceous papules and nodules on the palmar aspects of the hands

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[Incontinentia pigmenti: three new cases that demonstrate it is not only a matter of women]. / Incontinentia pigmenti: tres nuevos casos que demuestran que no es sólo cosa de mujeres.

Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for approximately 80 % of the cases. The diagnosis of incontinentia pigmenti is performed based on clinical features and family history with the support of histological findings. Nevertheless, as the gene responsible for the phenotype of the disease has been identified, a genetic study may be employed for doubtful cases. We report three cases of this entity (two women and one man) in different clinical stages of development that show the broad clinical spectrum we may encounter in the clinic.

Incontinentia pigmenti: tres nuevos casos que demuestran que no es sólo cosa de mujeres / Incontinentia pigmenti: three new cases that demostrate it is not only a matter of women

La incontinentia pigmenti es una genodermatosis infrecuente con carácter multisistémico que sigue un patrón de herencia dominante ligado a X, por lo que resulta letal en la mayoría de varones afectados intraútero y muestra gran variabilidad clínica cuando se expresa en mujeres. Recientemente se ha encontrado que las mutaciones del gen NEMO/IKK-g localizado en Xq28 causan la expresión de la enfermedad, siendo una única mutación la responsable de aproximadamente un 80 % de los casos. La incontinentia pigmenti interesa a varias especialidades médicas, aunque son la clínica cutánea y la historia familiar las que marcan el diagnóstico, ayudadas de los hallazgos histológicos. No obstante, la identificación reciente del gen responsable del fenotipo de la enfermedad permite la resolución de muchos casos dudosos mediante estudio genético. Presentamos a continuación tres nuevos casos de esta patología (dos mujeres y un varón) en diferentes estadios evolutivos, que muestran el amplio espectro clínico con el que esta patología puede llegar a nuestra consulta

Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for approximately 80 % of the cases. The diagnosis of incontinentia pigmenti is performed based on clinical features and family history with the support of histological findings. Nevertheless, as the gene responsible for the phenotype of the disease has been identified, a genetic study may be employed for doubtful cases. We report three cases of this entity (two women and one man) in different clinical stages of development that show the broad clinical spectrum we may encounter in the clinic

[Acrocyanosis as a form of presentation of progressive systemic sclerosis]. / Acrocianosis como forma de debut de una esclerosis sistémica progresiva.

Acrocyanosis is an infrequent entity characterized by persistent and symmetrical erythrocyanotic discoloration of the hands, feet and face, which is not preceded by episodes of previous paleness. Acrocyanosis can be secondary to a variety of underlying causes, but is uncommon as a form of presentation of systemic sclerosis. We present a new clinical case of this disease and discuss its etiopathogenic, clinical, diagnostic and therapeutic characteristics; in addition to, we seek to distinguish this term from others that might be confused in the literature.

Acrocianosis como forma de debut de una esclerosis sistémica progresiva / Acrocyanosis as a form of presentation of systemic sclerosis

La acrocianosis es un cuadro clínico caracterizado por una coloración azul violácea persistente y simétrica de zonas acras, principalmente manos y pies, que no está precedida por episodios de palidez previos. Es una entidad que puede asociarse a diversas causas subyacentes, pero es infrecuente que lo haga como forma de debút de una esclerosis sistémica progresiva. Se presenta a continuación un nuevo caso de esta patología y se comentan sus características etiopatogénicas, clínicas y diagnósticas más relevantes además de un intento de diferenciar este término de otros con los que existe confusión en la literatura

Acrocyanosis is an infrequent entity characterized by persistent and symmetrical erythrocyanotic discoloration of the hands, feet and face, which is not preceded by episodes of previous paleness. Acrocyanosis can be secondary to a variety of underlying causes, but is uncommon as a form of presentation of systemic sclerosis. We present a new clinical case of this disease and discuss its etiopathogenic, clinical, diagnostic and therapeutic characteristics; in addition to, we seek to distinguish this term from others that might be confused in the literature

Continuous facial myokymia in multiple sclerosis: treatment with botulinum toxin.

Continuous facial myokymia (CFM) is an involuntary undulating, vermicular movement that spreads across facial muscles and is associated with a characteristic electromyographic pattern. It is an infrequent clinical sign that almost always occurs in intrinsic brainstem lesions, particularly in multiple sclerosis (MS). It is usually present for only a few weeks, but it may persist for long periods of time being very troublesome for patients. We report 2 cases with MS and continuous hemifacial myokymia persisting for up to 1 month which disappeared after injection of botulinum toxin. Botulinum toxin A (BTX-A) has been used successfully to treat a variety of focal dystonias and occasionally in orbicularis myokymia, but its use has not been reported in continuous hemifacial myokymia. BTX-A appears to be effective and safe for treating persistent facial myokymia in MS patients.

Benign myoclonic epilepsy of infancy.

We present a case of benign myoclonic epilepsy of infancy and analyze the characteristic electroclinical findings. We wish to emphasize the usefulness of recognizing this entity among myoclonic epilepsies in children to enable early treatment and to obtain a good prognosis.