[Proteus syndrome with cerebral vascular malformations]. / Síndrome de Proteus con malformaciones vasculares cerebrales.

INTRODUCTION: Proteus syndrome is a congenital hamartomatous dysplasia. This sporadic disorder involves the skeletal system, soft tissues, skin and vascular system. The most likely pathogenesis involves somatic mosaicism. Main manifestations included soft-tissue and epidermal nevi, partial gigantism, hemihypertrophy, exostoses, lipomas and vascular anomalies. The most common brain abnormalities are hemimegencephaly and migrational disorders. We present a case of Proteus syndrome with cerebral vascular anomalies which are not described previously. CLINICAL CASE: Our patient is a 61 year-old male who has hypertrophy of the four limbs, macrodactyly and hypertrophy of chest and abdomen asymmetric with mild facial asymmetry. Prominent and abundant of the four extremities and trunk, also asymmetric. Vascular tumors in the skin of trunk and left limb. Cerebral MRI shows venous angiomas and multiple cavernous malformations. CONCLUSION: Clinical diagnostic criteria of Proteus syndrome are documented in our patient. He also has brain vascular malformations which are not described previously in the literature. We consider that both findings are not a product of causality due to the high prevalence of systemic vascular hamartomatous malformations in these patients. We hypothesize that a single mutation, probably involving genes in relation with apoptotic control will be responsible of Proteus syndrome and cerebral vascular anomalies in our patient, due to a defect of angiogenesis.

Síndrome de Proteus con malformaciones vasculares cerebrales / Proteus syndrome with cerebral vascular malformations

Introducción. El sindrome de Proteus es una displasia hamartomatosa congénita y esporádica que afecta a huesos, tejido conectivo, piel y sistema vascular. Se atribuye a un mosaicismo somático del que se desconoce el gen responsable. Los signos principales incluyen nevo del tejido conjuntivo y epidérmico, gigantismo parcial, hemihipertrofia corporal, exostosis, lipomas y anomalías vasculares. Las alteraciones cerebrales más frecuentemente descritas son la hemimegaencefalia y las alteraciones de la migración. Presentamos un caso de síndrome de Proteus con alteraciones cerebrales vasculares no descritas previamente. Caso clínico. Nuestro paciente es un varón de 61 años que presenta hipertrofia de las cuatro extremidades con macrodactilia junto con hipertrofias de tórax y abdomen asimétricas, así como ligera asimetría facial. Prominentes y abundantes venas varicosas en las cuatro extremidades y tronco, de forma asimétrica. Lesiones cutáneas vasculares en costado y pierna izquierda. En angio-RM cerebral se observan imágenes muy sugerentes de angiomas venosos y angiomas cavernosos múltiples. Conclusiones. Nuestro paciente cumple criterios clínicos para el diagnóstico de síndrome de Proteus; además presenta alteraciones venosas cerebrales en forma de angiomas venosos y cavernomas múltiples. Dichas alteraciones cerebrales no han sido descritas con anterioridad en relación a este síndrome. Consideramos que ambos hallazgos no son producto de la casualidad dada la alta prevalencia de malformaciones hamartomatosas vasculares a nivel sistémico en estos pacientes. Postulamos que una misma mutación, probablemente implicando genes relacionados con el control de la apoptosis, sería la causa del síndrome de Proteus y de la cavernomatosis y angiomatosis venosa cerebral de nuestro paciente debido a un defecto extendido de la angiogénesis

Introduction. Proteus syndrome is a congenital hamartomatous dysplasia. This sporadic disorder involves the skeletal system, soft tissues, skin and vascular system. The most likely pathogenesis involves somatic mosaicism. Main manifestations included soft-tissue and epidermal nevi, partial gigantism, hemihypertrophy, exostoses, lipomas and vascular anomalies. Ihe most common brain abnormalities are hemimegencephaly and migrational disorders. We present a case of Proteus syndrome with cerebral vascular anomalies which are not described previously. Clinical case. Our patient is a 61 year -old male who has hypertrophy of the four limbs, macrodactyly and hypertrophy of chest and abdomen asymmetric with mild facial asymmetry. Prominent and abundant of the four extremities and trunk, also asymmetric. Vascular tumors in the skin of trunk and left limbo Cerebral MRI shows venous angiomas and multiple cavernous malformations. Conclusion. Clinical diagnostic criteria of Proteus syndrome are documented in our patient. He also has brain vascular malformations which are not described previously in the literature. We consider that both findings are not a product of causality due to the high prevalence of systemic vascular hamartomatous malformations in these patients. We hypothesize that a single mutation, probably involving genes in relation with apoptotic control will be responsible of Proteus syndrome and cerebral vascular anomalies in our patient, due to a defect of angiogenesis

CADASIL: estudio de una familia / CADASIL: study of a family

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[Arterial hypertension and intracerebral hemorrhage]. / Hipertensión arterial y hemorragia intracerebral.

Intracerebral hemorrhage (ICH) is still a devastating stroke, with high mortality. Arterial hypertension (AHT) is the most common cause of primary ICH, causing changes in the wall of small vessels, leading to its rupture. Recent studies have attempted to understand the basic mechanisms of tissue damage around the hematoma. These days there is a debate regarding biochemical changes in this area, usually recognized as edema. Detection with the gradient-echo T2 weighted MRI of old and silent microhemorrhages in a patient with ICH as a radiological expression of a microangiopathy of small vessel poses questions regarding its predictive value of risk of bleeding recurrence. The object of our review is to analyze the present data that explains the interaction between chronic hypertension and primary ICH.