Hallazgos radiológicos en el síndrome de Currarino / Radiological findings in Currarino syndrome

Objetivo. Describir los hallazgos clínicos, radiológicos y genéticos de una familia afecta de síndrome de Currarino (SC) (agenesia del sacro, masa presacra y anomalías anorrectales) y familiarizar al radiólogo con esta entidad que, aunque infrecuente, podemos sospechar por sus imágenes características. Material y métodos. Se estudiaron 8 de los 9 miembros de la familia con sospecha de SC: los padres y 7 hermanos (4 varones y tres mujeres). Se detallaron los hallazgos clínicos y genéticos; y mediante radiografía simple, ecografía y resonancia magnética se investigó la agenesia del sacro y la presencia de masas presacras y anomalías anorrectales. Además, se realizó un análisis del gen HLBX9. No se solicitó el permiso al comité de ética aunque todos los miembros de la familia dieron su consentimiento. Resultados. La madre con un sacro en cimitarra confirmado era la transmisora de la mutación genética. Uno de los 7 hermanos era un SC completo (agenesia sacra, estenosis anorrectal y meningocele anterior). Cuatro hermanos presentaron un SC incompleto, tres con agenesia del sacro y masa presacra (dos meningoceles anteriores y un teratoma) y el cuarto una agenesia sacra y estenosis anorrectal. Un hermano no tenía alteraciones. Tanto la madre como 4 hermanos presentaban la mutación en el gen HLXB9. Conclusión. Ante una agenesia sacra se deberían investigar posibles masas presacras y alteraciones anorrectales. Así mismo, en caso de asociación familiar habría que descartar un SC (AU)

Objective. To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and anal-rectal anomalies), and to familiarise the radiologist with this condition that, although uncommon, could be suspected by its characteristic images. Material and methods. A study was made of 8 out of 9 family members (the parents, 7 siblings; 4 males and 3 females) suspected of having CS. The clinical and genetic findings are described. Using simple X-rays, ultrasound and magnetic resonance imaging, the presence of agenesis of the sacrum, a presacral mass and anal-rectal anomalies were investigated. Furthermore, a genetic analysis of the HLBX9 gene was performed. Permission by the Ethics Committee was not requested as all the family members gave their consent by signing a document. Results. The mother with a scimitar-shaped sacrum confirmed that she was the transmitter of the genetic mutation. One of the seven siblings had complete CS (sacral agenesis, anorectal stenosis, and anterior meningocele). Four siblings had an incomplete CS: 3 with sacral agenesis and a presacral mass (two anterior meningoceles and one teratoma) and the fourth with sacral agenesis and anorectal stenosis. One sibling had no anomalies. The mother, as well as four siblings, did not have the HLXB9 gene mutation. Conclusion. When there is sacral agenesis, the possibility of presacral masses and anorectal changes should be investigated. Likewise, if there is familial association, they should be investigated for a CS (AU)

[Radiological findings in Currarino syndrome]. / Hallazgos radiológicos en el síndrome de Currarino.

OBJECTIVE: To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and anal-rectal anomalies), and to familiarise the radiologist with this condition that, although uncommon, could be suspected by its characteristic images. MATERIAL AND METHODS: A study was made of 8 out of 9 family members (the parents, 7 siblings; 4 males and 3 females) suspected of having CS. The clinical and genetic findings are described. Using simple X-rays, ultrasound and magnetic resonance imaging, the presence of agenesis of the sacrum, a presacral mass and anal-rectal anomalies were investigated. Furthermore, a genetic analysis of the HLBX9 gene was performed. Permission by the Ethics Committee was not requested as all the family members gave their consent by signing a document. RESULTS: The mother with a scimitar-shaped sacrum confirmed that she was the transmitter of the genetic mutation. One of the seven siblings had complete CS (sacral agenesis, anorectal stenosis, and anterior meningocele). Four siblings had an incomplete CS: 3 with sacral agenesis and a presacral mass (two anterior meningoceles and one teratoma) and the fourth with sacral agenesis and anorectal stenosis. One sibling had no anomalies. The mother, as well as four siblings, did not have the HLXB9 gene mutation. CONCLUSION: When there is sacral agenesis, the possibility of presacral masses and anorectal changes should be investigated. Likewise, if there is familial association, they should be investigated for a CS.

[Frey's syndrome: report of three cases with two distinct etiopathogeneses]. / Síndrome de Frey: tres observaciones clínicas con dos etiopatogenias diferentes.

Frey's syndrome is characterized by recurrent episodes of facial gustatory flushing and sweating (most frequent in adults) limited to the cutaneous distribution of the auriculotemporal nerve which, when injured, shows abnormal regeneration. The condition is relatively common in adults following nerve injury in parotid surgery but has rarely been reported in children as a sequel of perinatal birth trauma resulting from forceps assisted delivery. We report three patients with the same syndrome and two different causes. Two children had a history of forceps assisted delivery and one adolescent had undergone preauricular lymphadenectomy. This syndrome, which has more often been described by allergists and maxillofacial surgeons than by pediatricians, may pose problems of differential diagnosis with food allergy, leading to unnecessary exclusion diets. In the pediatric age group, Frey's syndrome is self limiting and does not require therapy if the diagnosis is correct.

Síndrome de Frey: tres observaciones clínicas con dos etiopatogenias diferentes / Frey’s syndrome: report of three cases with two distinct etiopathogeneses

El síndrome de Frey se caracteriza por episodios recurrentes de enrojecimiento y sudoración facial (más frecuente en adultos) causados por estímulos gustatorios y limitados al territorio de inervación del nervio auriculotemporal que, lesionado, se regenera de forma aberrante. Relativamente común en adultos como complicación de cirugía parotídea, se ha descrito menos en la infancia temprana como secuela de traumatismo facial perinatal por parto asistido con fórceps. Se presentan 3 casos clínicos del mismo síndrome con dos etiopatogenias diferentes, en 2 niños secundario a parto con fórceps y en un adolescente que apareció tras ser intervenido de linfadenectomía preauricular. Este síndrome más descrito por alergólogos y cirujanos maxilofaciales que por pediatras puede plantear estudios de alergia alimentaria o imponer dietas de exclusión innecesarias. No precisa tratamiento en la edad pediátrica excepto un correcto diagnóstico

Frey's syndrome is characterized by recurrent episodes of facial gustatory flushing and sweating (most frequent in adults) limited to the cutaneous distribution of the auriculotemporal nerve which, when injured, shows abnormal regeneration. The condition is relatively common in adults following nerve injury in parotid surgery but has rarely been reported in children as a sequel of perinatal birth trauma resulting from forceps assisted delivery. We report three patients with the same syndrome and two different causes. Two children had a history of forceps assisted delivery and one adolescent had undergone preauricular lymphadenectomy. This syndrome, which has more often been described by allergists and maxillofacial surgeons than by pediatricians, may pose problems of differential diagnosis with food allergy, leading to unnecessary exclusion diets. In the pediatric age group, Frey's syndrome is self limiting and does not require therapy if the diagnosis is correct

Optical coherence tomography to monitor photodynamic therapy in pathological myopia.

AIM: To evaluate the role of optical coherence tomography (OCT) in determining choroidal neovascularisation (CNV) activity before and after photodynamic therapy (PDT) in patients with pathological myopia. METHODS: 33 patients (33 eyes) with pathological myopia and being treated with PDT were included. Every 3 months all patients were evaluated and presence or absence of leakage on fluorescein angiography, presence of intraretinal or subretinal fluid on OCT, and macular and choroidal neovascular complex thickness on OCT, were determined at each examination. RESULTS: The macular thickness decreased significantly after PDT at 6 months (p = 0.001) and at 12 months follow up (p = 0.01). However, no significant changes in CNV thickness were measured after PDT at 6 months of follow up (p = 0.418) and at 12 months of follow up (p = 0.521). Once the diagnosis of CNV associated with pathological myopia was established, before treatment, OCT had a sensitivity of 96.96% for detecting CNV activity. After treatment, OCT had a good sensitivity (95.23%) and a moderate specificity (69,69%) in determining CNV activity, which resulted in a diagnostic efficiency (proportion of correct results) of 79.62%. CONCLUSIONS: OCT appears to be useful for indicating CNV activity. Therefore, it may serve as a complementary technique for deciding the need for PDT and re-treatment in patients with pathological myopia.

[Prevalence and risk factors of pseudoexfoliation syndrome in institutionalized geriatric patients in Navarra]. / Prevalencia y factores de riesgo del síndrome pseudoexfoliativo en una población institucionalizada en Navarra.

PURPOSE: To establish the prevalence of pseudoexfoliation syndrome (PSX) in an institutionalized geriatric population in Navarra. To study the risk factors for the development of this disease. MATERIAL AND METHODS: 268 nursing home residents were studied, with a mean age of 81 years. The presence of PSX material in the anterior segment was best appreciated by slit lamp after pupillary dilation. We assessed its association with 13 ocular factors and 14 systemic factors. RESULTS: We found 10.1% (27) of subjects with PSX, 19 cases were unilateral and 8 bilateral. The frequency detected in subjects from Navarra was 7.9% versus 21.2% in subjects from other regions (p=0.02), although the significance was lost after multivariant logistic regression. The PSX was 3.5 times more frequent in patients suffering heart failure (p=0.01). The PSX was associated with anti-glaucomatous treatment, which multiplies the risk by 3.2 times (p=0.02); patients affected with age-related geographic macular atrophy had a 2.6 fold increased frequency (p=0.03), both after adjusting for age remained significant. We did not find any association between the PSX and other systemic factors (systemic hypertension and diabetes mellitus) or ocular factors (senile arc and cataract). CONCLUSIONS: The prevalence of PSX syndrome seems to be lower in an institutionalized population in Navarra than in other Spanish regions. The correlation with heart failure and age-related geographic macular atrophy suggests the possibility of a vascular role. The epidemiological association with increased IOP is confirmed.

Prevalencia y factores de riesgo del síndrome pseudoexfoliativo en una población institucionalizada en Navarra / Prevalence and risk factors of pseudoexfoliation syndrome in institutionalized geriatric patients in Navarra

Objetivo: Estimar la prevalencia del síndrome pseudoexfoliativo (PSX) en una población geriátrica institucionalizada en Navarra. Conocer los factores de riesgo de desarrollar esta enfermedad. Material y métodos: Fueron estudiadas 268 personas de una residencia geriátrica, con una edad media de 81 años. Se investigó la presencia de material PSX en el segmento anterior mediante biomicroscopia bajo midriasis farmacológica. Se analizó su asociación con 13 factores oculares y 14 sistémicos. Resultados: El 10,1 por ciento (27) de las personas presentaba pseudoexfoliación, en 19 casos unilateral y en 8 bilateral. La frecuencia detectada entre los nacidos en Navarra fue del 7,9 por ciento frente al 21,2 por ciento de los no navarros (p=0,02), aunque dejó de ser significativa en el análisis logístico multivariante. La PSX fue 3,5 veces más frecuente entre los pacientes con insuficiencia cardíaca (p=0,01). Se asoció con el tratamiento anti-glaucomatoso, que aumentaba el riesgo por 3,2 veces (p=0,02), y con la atrofia geográfica macular asociada a la edad que multiplicaba su frecuencia por 2,6 veces (p=0,03), ambas incluso tras estratificar por edad. No se asoció la PSX con otros factores sistémicos (HTA, diabetes mellitus, etc.) y oculares (gerontoxon, catarata, etc.). Conclusiones: La prevalencia del síndrome PSX en una población institucionalizada en Navarra parece ser inferior a otras zonas de España. La relación con la insuficiencia cardíaca y la atrofia geográfica macular sugiere un posible componente vascular. Se confirma su asociación epidemiológica con la medicación antiglaucomatosa (AU)

Purpose: To establish the prevalence of pseudoexfoliation syndrome (PSX) in an institutionalized geriatric population in Navarra. To study the risk factors for the development of this disease. Material and methods: 268 nursing home residents were studied, with a mean age of 81 years. The presence of PSX material in the anterior segment was best appreciated by slit lamp after pupillary dilation. We assessed its association with 13 ocular factors and 14 systemic factors. Results: We found 10.1% (27) of subjects with PSX, 19 cases were unilateral and 8 bilateral. The frequency detected in subjects from Navarra was 7.9% versus 21.2% in subjects from other regions (p=0.02), although the significance was lost after multivariant logistic regression. The PSX was 3.5 times more frequent in patients suffering heart failure (p=0.01). The PSX was associated with anti-glaucomatous treatment, which multiplies the risk by 3.2 times (p=0.02); patients affected with age-related geographic macular atrophy had a 2.6 fold increased frequency (p=0.03), both after adjusting for age remained significant. We did not find any association between the PSX and other systemic factors (systemic hypertension and diabetes mellitus) or ocular factors (senile arc and cataract). Conclusions: The prevalence of PSX syndrome seems to be lower in an institutionalized population in Navarra than in other Spanish regions. The correlation with heart failure and age-related geographic macular atrophy suggests the possibility of a vascular role. The epidemiological association with increased IOP is confirmed (AU)

[Retinal nerve fiber layer thickness in glaucomatous eyes. A comparative study between OCT and visual field]. / Capa de fibras nerviosas en ojos glaucomatosos. Estudio realizado mediante OCT y su comparación con el campo visual.

PURPOSE: To investigate the retinal nerve fiber layer (RNFL) thickness in glaucomatous eyes using Optical Coherence Tomography (OCT). To compare the RNFL thickness with visual field damage (Humphrey field analyzer). MATERIAL AND METHODS: The mean RNFL thickness in glaucomatous eyes (n = 80) was compared with age-matched normal eyes (n = 40). Three circular scans were obtained for each eye using OCT (3.4 mm diameter). In each eye, average RNFL, 4 quadrants and 12 meridians were calculated and compared. The superior-inferior asymmetry of RNFL was studied. The average RNFL thickness was compared with mean deviation (MD) and mean standard deviation (MSD) of SITA 24-2 visual field program. RESULTS: Mean RNFL was significantly thinner in glaucomatous eyes than in normal eyes (p<0.001). The RNFL thickness was decrease in the 4 quadrants and 11 of 12 meridians studied in glaucomatous eyes (p<0.05). The superior-inferior asymmetry showed a significant difference in RNFL thickness at 30 degrees central meridian (p<0.05). Mean RNFL thickness was significantly associated with DM and DSM of visual field (p<0.001) in glaucomatous eyes. CONCLUSIONS: OCT revealed significant quantitative differences in RNFL thickness between glaucomatous and normal eyes. OCT showed a considerable measurements overlap between glaucomatous and normal eyes, which can limit the sensitivity and specificity of this instrument (Arch Soc Esp Oftalmol 2002; 77: 435-442).

Capa de fibras nerviosas en ojos glaucomatosos. Estudio realizado mediante OCT y su comparación con el campo visual / Retinal nerve fiber layer thickness in glaucomatous eyes. A comparative study between OCT and visual field

Propósito: Analizar mediante tomografía óptica de coherencia (OCT) el grosor de la capa de fibras nerviosas de la retina (CFNR) en un grupo de pacientes glaucomatosos y compararlo con índices de campo visual (Humphrey 24-2).Material y métodos: Estudio de la CFNR en 80 ojos glaucomatosos y en 40 ojos controles. En todos los ojos se realizaron 3 medidas de OCT en modo scan circular (diámetro 3,4 mm) y se calculó la media. Comparamos entre ojos normales y glaucomatosos: la media del grosor de la CFNR, el grosor en 4 cuadrantes y en 12 meridianos. Estudiamos la asimetría superior-inferior en 12 zonas. En ojos glaucomatosos comparamos el grosor medio de la CFNR con la desviación media (DM) y la desviación standard media (DSM) del programa SITA 24-2.Resultados: La media de la CFNR es menor en ojos glaucomatosos que en normales (p<0,001). En los 4 cuadrantes analizados y en 11 de los 12 meridianos, la CFNR presenta unos valores inferiores en ojos glaucomatosos (p<0,05). La asimetría superior-inferior sólo mostró diferencia significativa en el meridiano correspondiente a los 30º centrales del campo visual (p<0,05). Existe una relación significativa entre la CFNR y el DM (p<0,001) y entre la CFNR y el DSM (p<0,001).Conclusiones: El OCT permite encontrar diferencias entre los ojos normales y glaucomatosos en la mayoría de zonas estudiadas de la CFNR y muestra una relación con las alteraciones del campo visual. Existe un importante solapamiento entre ojos normales y glaucomatosos, lo que puede limitar la sensibilidad y la especificidad de esta prueba. (AU)

[Prevalence of drusen in homes for the elderly]. / Prevalencia de drusas en una población institucionalizada anciana.

PURPOSE: To establish the prevalence of drusen in a population of over-65 year subjects residing in institutions. MATERIAL AND METHOD: A medical interview, ophthalmological examinations and midriatic retinography were performed in 392 older-than-65 year subjects living in homes for the elder (784 eyes). Each eye was reviewed by means of the Wissconsin Age-Related Maculopathy Grading System, in order to determine drusen frequency. RESULTS: Druses frequency totalled 33.3%. A great trend to symmetry was observed; bilateral in 23% of patients. The most frequent finding was multiple units (40 to 59 per eye), well defined soft drusen of 125 micrometer in size, which showed very little tendency to confluence. Twelve to 24% of macular area was affected by drusen. Subjects between ages of 65 to 74, presented the highest frequence. Drusen decreased with age from 75 years upwards. CONCLUSION: The observed drusen frequency found appear lower than those described in other studies outside our country, perhaps due to higher prevalence of media opacities. Midriatic retinography can be a good screening method for the detection of drusen.

Prevalencia de drusas en una población institucionalizada anciana / Prevalence of drusen in homes for the elderly

Objetivo: Establecer la prevalencia de drusas entre una población institucionalizada mayor de 65 años.Material y Métodos: Se realizó una anamnesis junto con una exploración oftalmoscópica a 392 personas institucionalizadas (784 ojos) mayores de 65 años, incluyendo retinografías midriáticas. Se valoró cada fondo de ojo por la clasificación internacional de Wisconsin, para determinar la frecuencia de drusas.Resultados: La frecuencia de drusas fue del 33,3 por ciento. Existe una gran tendencia hacia la simetría, siendo las drusas bilaterales en el 23 por ciento de los pacientes. El tipo de drusa más frecuente fue el de las drusas numerosas (40 a 59 por ojo), blandas bien definidas de 125 µm, con poca tendencia a confluir, y que afectaban del 12 al 24 por ciento del área macular. Se observó una mayor predisposición entre los 65 y 74 años, descendiendo su frecuencia en los pacientes de 75 o más años.Conclusión: La frecuencia de drusas detectada es menor a la presentada en otros estudios fuera de nuestro país, quizás debido a una mayor opacidad de los medios oculares. La retinografía midriática puede ser un buen método de screening para la detección de drusas (AU)

Lípidos y degeneración macular asociada a la edad Lipids and age-related macular degeneration / Lipids and age-related macular degeneration

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Papilopatía diabética en el adulto como primera manifestación de la diabetes / Papillopathy in the elderly as presenting sign of the diabetes

Objetivo/Método: Se presenta el caso de una paciente de 72 años que desconocía padecer diabetes y que en la revisión postoperatoria de cirugía de cataratas presentó una papilopatía bilateral asintomática. Se realizó seguimiento mediante angiografía fluoresceínica y con verde de indocianina, oftalmoscopia y campimetría. Resultados/Conclusiones: La aparición y el curso de la papilopatía fue asimétrico en ambos ojos. El rastreo sistémico realizado mostró la existencia de una diabetes descompensada. El cuadro mejoró espontáneamente no dejando atrofia papilar. La papilopatía diabética es un cuadro infrecuente en el adulto pero debe ser sospechado en casos de borrosidad papilar que cursan asintomáticos desde el punto de vista visual (AU)

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