[Evolution until death of two members of a family with A3243G mutation and MELAS phenotype versus diabetes mellitus]. / Evolución hasta el fallecimiento de dos miembros de una familia con la mutación A3243G y fenotipo MELAS frente a diabetes mellitus.

INTRODUCTION: The A3243G gene tRNALeu(UUR) mutation has different phenotypic expressions. The clinical outcome and survival of each phenotype are mostly unknown. We followed-up two of three family members, carriers of the A3243G mutation, until their death. CLINICAL CASE: The proband case had MELAS (mitochondrial myopathy, encephalopathy, lactacidosis, stroke) phenotype. Although he presented with a stroke-like episode, he developed recurrent generalized and partial epileptic seizures without associated stroke-like episodes over time as well as slowly progressive dementia. The cognitive performance greatly worsened after a complex partial epileptic status. He died from bronchopneumonia and septic shock eleven years after diagnosis. His sister remains asymptomatic. His mother was diagnosed of diabetes mellitus and deafness when she was 53. Seventeen years later she developed a single stroke-like episode. She died one year after from acute renal failure and cardiogenic shock following sympathectomy for ischemic angiopathy. In the MELAS case neither idebenone treatment nor valproate substitution by other anticonvulsants reduced seizure frequency nor the spreading of lesions evaluated by MRI. In the phenotype with diabetes and deafness the outcome diabetes mellitus was as expected. CONCLUSIONS: In this family with A3243G mutation, the phenotype with neurosensorial deafness and diabetes mellitus seems to have longer survival than the MELAS phenotype. The cause of death in both cases was closely related to medical complications prevalent in each patient at the time of death.

[Coexistence of syringomyelia and extramedullary intradural meningioma]. / Coexistencia de siringomielia y meningioma intradural extramedular.

INTRODUCTION: The coexistence of non-communicating syringomyelia with extramedullary intradural tumours in surgical series is extremely rare. CASE REPORT: We report the case of a 68-year-old female who had been suffering from predominantly proximal asymmetrical progressive paraparesis, with no involvement of the sphincters; the clinical exploration revealed a band of thermal hypaesthesia D7-D8. Magnetic resonance imaging (MRI), following the administration of gadolinium, confirmed the coexistence of an extramedullary intradural expansive lesion, which had features suggesting it could be a meningioma, and a dorsal syringomyelia. The cavity involved two medullary segments situated above the tumour and there were no associated anomalies at the junction of the medulla and upper spinal cord. Following complete resection of the tumour, which was diagnosed histologically as being a transitional meningioma with abundant psammoma bodies, the patient recovered the ability to walk independently. CONCLUSIONS: MRI with contrast is the best diagnostic means available for the detection and delimitation of the two components in this rare association, although its capacity to detect signs suggesting turbulences in the intracavity fluid, especially in small cavities, has still to be confirmed. The variations in the size and situation of the cavity with respect to the seat of the tumour, and the fact that progress is seldom monitored with MRI in the cases published to date, do not allow us to identify the pathogenic mechanism responsible for this association or to suggest the best type of shunt to prevent a possible expansion of the syringomyelic cavity.

[Evolution of epilepsy in successive pregnancies]. / Evolución de la epilepsia en gestaciones sucesivas.

INTRODUCTION: Hormonal and metabolic factors related to pregnancy itself are considered to increase the likelihood of seizure recurrence. If so, we should expect a similar evolution of epilepsy in a subsequent pregnancy. We investigated differences in evolution of non-gestational epilepsy in each pregnancy of women suffering from epilepsy. METHODS: A prospective study was conducted in order to compare seizure frequency in two successive pregnancies of more than 36 weeks duration in 12 patients. Improvement/worsening is defined as a change of +/- 50 % in the number of seizures regarding that which occurred within the previous eleven months. RESULTS: Twelve epileptic women were studied during two subsequent pregnancies. Eight of them took the same antiepileptic treatment for both pregnancies and one took no antiepileptic drug. Three worsened in the first pregnancy and two in the second. Seven patients had the same seizure frequency during both pregnancies. The total plasma antiepileptic concentrations tended to decline with the same proportion in both pregnancies if the dose remained unchanged. We observed no differences in mean hormone plasma concentrations for each quarter, within subsequent pregnancies. CONCLUSION: Except for one case with drug-resistant epilepsy, we found that the reason for the discrepancy in the frequency of the seizure between two successive pregnancies in the same patient was a sharp or rapid change in antiepileptic drug dose or non-compliance. In well controlled epileptic women a consistent evolution of epilepsy should be expected in a subsequent pregnancy, if adequate treatment is maintained.