Fernando Mateos

Spontaneous carotid and vertebral artery dissection in children

Carotid and vertebral artery dissection is a rarely reported cause of stroke in childhood and adolescence, especially if there is not a direct trauma to the neck. Four patients, under 15 years of age, presented with an internal carotid artery dissection, and one patient presented with a vertebral artery dissection. They were all making a physical effort when the event occurred. The five patients had ischemic symptoms, and in two the events were preceded by transient ischemic attacks. Headache was associated in four patients. The diagnosis was made by magnetic resonance imaging and angiography, which included transfemoral angiography in two patients. All improved before leaving the hospital, and four patients did not suffer recurrent episodes. The diagnostic accuracy of artery dissection has improved because of noninvasive neuroimaging testing, but it should still be suspected in any pediatric ischemic stroke, especially if there is headache or cervical pain associated.

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: Two novel mutations and review of the literature

Mutation in the protocadherin 19 (PCDH19) gene is an increasingly recognized cause of epilepsy in females. This disorder is frequently associated with mental retardation and psychiatric features. We describe two unrelated females with novel PCDH19 missense mutations. One was de novo, and the other was inherited from her unaffected father. Both had mild mental impairment but had remarkable behavioral problems. We reviewed the cognitive and behavioral profiles of previously reported PCDH19-positive cases. Intellectual disability appeared in 75% of patients, ranging from borderline to severe. More than half of the individuals presented behavioral disturbances, which could be divided into two different groups: autistic and non-autistic. The majority of patients with autism already had some degree of cognitive impairment. It appears that seizures tend to diminish or even stop in adolescence, so non-epileptic problems can become the most important and disabling issue in adult patients with PCDH19 mutation.

Vertebral artery fibromuscular dysplasia: an unusual cause of stroke in a 3-year-old child

Fibromuscular dysplasia (FMD) is a systemic arteriopathy which tends to affect renal arteries followed by cervicocranial vessels. It can lead to cerebral infarction if cephalic arteries are involved. FMD is an unusual cause of stroke in childhood that generally affects the carotid area. Only four cases of vertebral FMD and subsequent stroke have been reported previously and we present the youngest patient of all. A healthy 3-year-old female was admitted to Hospital Doce de Octubre in Madrid, Spain with cerebellar infarction. Angiography disclosed basilar artery thrombosis and typical signs of FMD in both vertebral arteries. No other angiographic alteration was noted in the other vessels studied. Her phenotype and other investigations were unremarkable. The patient was treated with anti-aggregation therapy (aspirin) and the outcome was excellent. Investigation of the occurrence in childhood of this kind of arteriopathy may lead to clarification of its natural history and speculation about its unclear pathogenesis.

Miller Fisher syndrome in infancy

Miller Fisher syndrome (MFS) is characterized by the triad of ataxia, areflexia and ophthalmoplegia. It is exceptional for infants to be involved. Two infants, aged 11 and 16 months, developed acute-onset MFS. Both patients had prodromal upper respiratory tract infection. Pupillary responses to light, strength and sensation modalities were preserved. One patient was lethargic for a day; the electroencephalogram disclosed slightly slow background activity that later became normal. The other received high-dose intravenous immunoglobulins for 5 consecutive days starting at once on admission; within the next 7 days he became asymptomatic. Increased cerebrospinal fluid protein content and delayed nerve conduction studies with prolonged distal latencies were encountered in both patients.

Fertiloscopia: una nueva técnica en el estudio de la esterilidad de origen desconocido

Resumen Objetivo Comprobar la efectividad y la seguridad de la fertiloscopia como tecnica alternativa a la laparoscopia diagnostica en el estudio de la esterilidad de origen no filiado Material y Metodos Un total de 17 pacientes con diagnostico de esterilidad de origen no filiado y candidatas a laparoscopia diagnostica se reclutaron para el estudio. Se les realizo fertiloscopia (hidrolaparoscopia transvaginal, cromopertubacion, salpingoscopia e histeroscopia en un tiempo) con anestesia general o regional Resultados La hidrolaparoscopia transvaginal, cromopertubacion e histeroscopia se completo en 16 pacientes. En una paciente no se consiguio acceder al fondo de saco de Douglas. La salpingoscopia se realizo uni o bilateralmente en 14 pacientes (82,3%). No tuvimos ninguna complicacion Conclusiones La fertiloscopia es un metodo facil de realizar y seguro, como alternativa a la laparoscopia diagnostica en pacientes con esterilidad de origen no filiado