Study of antiphospholipid antibodies in patients treated with antiepileptic drugs.

BACKGROUND: Antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies) are associated with a variety of clinical situations, including drug-intake, but their relationships with antiepileptic drugs have been scarcely investigated. OBJECTIVE: To determine the prevalence of antiphospholipid antibodies in patients treated with antiepileptic drugs and the associated risk of thrombotic events. PATIENTS AND METHODS: We performed the serologic study of thirty-six consecutively prospectively recruited epileptic patients treated with diverse antiepileptic drugs during 44.38 +/- 8.08 months (mean +/- SD) in which antiphospholipid antibodies were determined using cardiolipin and a mixture of phospholipid from rabbit brain as antigen for detection of cardiolipin and lupus anticoagulant by ELISA and in addition lupus anticoagulant was carried out also using coagulometric assays. A clinical evaluation was done in order to determine the presence of thrombotic events in the following five years. RESULTS: Antiphospholipid antibodies were detected in 43% of these patients, in most of them as anticardiolipin antibodies (IgM subtype). The patients did not present thrombotic events during the time of the study. CONCLUSION: Antiphospholipid antibodies are positive in a high proportion of these patients but thrombosis were not found during the study duration. This may be explained by the fact that the profile of aCL positivity not associated to positive LA observed in these patients does not confer a risk for thrombotic events.

Estudio de los anticuerpos antifosfolípido en pacientes tratados con fármacos antiepilépticos / Study of antiphospholipid antibodies in patients treated with antiepileptic drugs

FUNDAMENTO: Los anticuerpos antifosfolípido (anticoagulante lúpico y anticuerpos anticardiolipina) se asocian con una variedad de situaciones clínicas, incluida la ingestión de medicaciones, pero su relación con los fármacos antiepilépticos no está aclarada. OBJETIVO: Determinar la prevalencia de los anticuerpos antifosfolípido en pacientes tratados con fármacos antiepilépticos y el riesgo de trombosis asociado a éstos. PACIENTES Y MÉTODOS: Estudiamos prospectivamente a 36 pacientes epilépticos seleccionados de forma consecutiva y tratados previamente con diversas medicaciones antiepilépticas durante 44,8 ñ 8,08 meses (media ñ DE). Se determinaron los anticuerpos antifosfolípido usando cardiolipina y una mezcla de fosfolípido de cerebro de rata como antígeno para la detección de los anticuerpos anticardiolipina y el anticoagulante lúpico por la técnica de ELISA y, además, mediante estudios de coagulación para este último. Se realizó un seguimiento clínico para determinar la presencia de fenómenos trombóticos en los siguientes 5 años. RESULTADOS: Se detectaron anticuerpos antifosfolípido en el 43 por ciento de los pacientes, en la mayoría anticuerpos anticardiolipina del subtipo IgM. Los pacientes no presentaron fenómenos trombóticos durante el tiempo de seguimiento. CONCLUSIÓN: Los anticuerpos anticardiolipina fueron positivos en una alta proporción de estos pacientes, pero no se asociaron a fenómenos de trombosis. Esto puede explicarse porque el perfil de positividad de anticuerpos anticardiolipina no asociado a anticoagulante lúpico positivo que se encontró en estos pacientes no confiere aumento de riesgo de trombosis. (AU)

Neuropatía trigeminal sensitiva aislada por infarto lateral pontino / Isolated sensory trigeminal neuropathy due to lateral pontine stroke

La lesión de un nervio craneal por daño vascular en la protuberancia generalmente se acompaña de afectación de los tractos nerviosos colindantes y es excepcional la presentación como mononeuropatía craneal aislada. Describimos el caso de una mujer de 57 años hipertensa, que presentó de forma brusca parestesias e hipoestesis tactoalgésica en las tres ramas del quinto nervio craneal derecho sin afectación motora y con preservación de los reflejos corneal y maseterino. La resonancia magnética craneal revelaba un pequeño infarto dorsolateral pontino en la salida del trigémino derecho. La neuropatía trigeminal sensitiva aislada es una rara forma de presentación del infarto pontino (AU)

[Isolated sensory trigeminal neuropathy caused by a lateral pontine infarct]]. / Neuropatía trigeminal sensitiva aislada por infarto lateral pontino.

Lesion of cranial nerves due to vascular damage at pontine level generally associates affectation of near nerve tracts. Isolated fifth nerve palsy due to vascular pontine lesions has been scarcely reported. We present a hypertense 57 year old woman who suffered from sudden paresthesias and hypoesthesia on the three divisions of trigeminal nerve without motor involvement and with preservation of corneal and masseter reflexes. Cranial magnetic resonance showed small dorsolateral pontine infarct over the right fifth cranial nerve entry. Isolated sensitive trigeminal neuropathy is a rare debut form of pontine infarct.

Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.

More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late mutation are scarce, and usually come from isolated case reports or tables. The Tyr77 mutation is not as well characterized as the Met30 mutation, especially with respect to such aspects as prognosis or possible treatment by liver transplantation. We therefore present the clinical and pathological features of an extensive family with the Tyr77 TTR mutation, comprising 12 affected individuals over four generations. Six living individuals were followed over a 10-year period. Retrospective data were obtained with regard to the deceased family members. We found that an initial and sometimes prolonged carpal tunnel syndrome, beginning between the 6th and 7th decades, characterizes the Tyr77 mutation. In most cases this evolved to generalized peripheral nerve involvement, restrictive cardiomyopathy, and intestinal malabsortion. Although survival is usually high, there are progressive cases that should be candidates for liver transplant, before severe impairment has developed.

[Dorsal subdural spinal abscess after epidural anesthesia]. / Absceso subdural espinal dorsal tras anestesia epidural.

Spinal subdural empyema (SE) is a rare condition. We describe a young patient with a torathic SE after lumbar epidural anaesthesia. SE was distant from the region of manipulation. Spinal magnetic resonance was the most useful procedure for diagnosis and follow-up. Treatment with intravenous antibiotics and drainage was not enough, and she needed complete surgical excision of the lesion.

Isolated pontine infarctions with prominent ipsilateral midfacial sensory signs.

BACKGROUND: Pontine infarctions may produce combined motor, sensory, cerebellar, and cranial nerve dysfunction. Midline sensory complaints and facial pain are uncommon. CASE DESCRIPTIONS: Three patients are described with hypoesthesia and numbness of the midline facial area associated with dysarthria and contralateral hemiparesis due to pontine strokes. MRI demonstrated isolated ipsilateral ischemic infarctions of the ventral pons. CONCLUSIONS: Pontine infarctions can produce diverse sensory features. Ipsilateral midfacial sensory defect has been rarely reported. The clinicoanatomic basis for the ipsilateral midfacial sensory defect described is unknown. Involvement of the dorsal trigeminothalamic tract or fiber tracts related to central regions of the face, located in the medial part of the midbrain, could help to explain these data. The symptoms could be due to direct damage or to edema resulting from the infarct. In some patients, midfacial sensory complaints, particularly of the ala nasi, could be an early sign of major pontine deficits and may be important to determine appropriate treatment.

Study of antiphospholipid antibodies in a patient with Sneddon's syndrome and her family.

BACKGROUND: Sneddon's syndrome is a disease characterized by livedo reticularis and cerebrovascular lesions, with a hereditary transmission and unknown etiopathogenesis. A number of reports have documented a link between antiphospholipid antibodies and Sneddon's syndrome with different results. The present work was designed to sequentially study antiphospholipid antibodies in a patient with Sneddon's syndrome and her family and their potential role in thrombotic events. We used cardiolipin and a mixture of phospholipids from rabbit brain as antigen for antiphospholipid assays to determine diagnostic usefulness. CASE DESCRIPTIONS: A patient with Sneddon's syndrome and 12 available family members belonging to three generations were evaluated to determine the presence of antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies) during vascular thrombotic events and asymptomatic periods. CONCLUSIONS: Our results support a temporal relation between thrombotic events in Sneddon's syndrome and lupus anticoagulant; anticardiolipin antibodies remained invariable. Our index case patient and her father could be diagnosed as having primary antiphospholipid antibody syndrome. Aspirin was not effective in preventing thrombosis. After the onset of oral anticoagulant therapy, no recurrences were seen. The use of a mixture of phospholipids as antigen could present some advantages in serological studies performed in antiphospholipid syndromes.

Isolated palsy of the third nerve nuclear complex caused by cerebral toxoplasmosis.

We present a patient with palsy of the third nerve nuclear complex secondary to cerebral toxoplasmosis. There was a unique lesion by magnetic resonance and there were no other neurological symptoms. A complete radiographic and clinical resolution was obtained by specific treatment. Such neurological symptoms in cases of toxoplasmosis have not been reported previously.

Isolated continuous rhythmic lingual myoclonus.

Isolated continuous lingual myoclonus is an exceptional entity, poorly documented and understood. A patient with a nonepileptic continuous rhythmical myoclonus, affecting the anterior portion of the tongue, as an independent involuntary disorder, is reported. Electromyography showed low frequency (2-4 Hz) bursts of genioglossus muscles activity. The EEG, visual, auditory and somatosensory evoked responses were normal. Imaging techniques like CT and MRI failed to reveal any brainstem or cerebellar lesion. Lingual myoclonus showed a very good response to sodium valproate.

Stroke in adult polycystic kidney disease.

In order to assess the incidence of acute cerebrovascular events, 142 patients with adult polycystic kidney disease were retrospectively reviewed. Fourteen patients (9.8%) had 19 cerebral attacks. Six patients (4.2%) had intracranial haemorrhage attacks (three ruptured intracranial aneurysms and three cerebral haemorrhages). Ischaemic events occurred in nine patients (five cerebral infarctions and four transient ischaemic attacks). Patients with ischaemic attacks had a better outcome than patients with haemorrhagic events even when transient ischaemic attacks were excluded. Patients with ruptured intracranial aneurysms were younger. Cerebral complications are an important cause of morbidity and mortality in patients with adult polycystic kidney disease. They can prove disabling prior to or after dialysis and transplantation.

Cluster headache and intercalated seizures in a young man: therapeutic effectiveness of flunarizine.

A young man suffering from both cluster headache and epilepsy is reported. Since the age of 37 he had recurrent generalized tonic-clonic seizures; one year later cluster headache attacks began. Neurological examination, standard laboratory tests and CT-scan were normal. The EEG showed medium-voltage sharp waves, not blocking upon eye opening, over the right parieto-temporal region. Flunarizine was added to his phenytoin therapy; it controlled both paroxysmal disorders. After six months, flunarizine was discontinued and during a one year follow-up the patient remained symptom-free. This calcium channel blocker can be regarded as an ideal drug in patients suffering from both cluster headache and epilepsy; it controls this headache syndrome and is a useful add-on to standard anti-convulsant therapy.