[Miller-Dieker syndrome: partial expression due to chromosome translocation].
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Biomedical subjects
Publications and source records attributed to A Pato-Pato.
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INTRODUCTION: In the last years advances in the treatment of the remittant and secondary progressive forms of the multiple sclerosis (MS) have taken place. In the primary progressive forms (PP) the side effects of potentially useful drugs prevent their use; in some studies an improvement of the evolution with the intravenous administration of periodic pulses of methylprednisolone (MP) has been observed. OBJECTIVE: To evaluate if periodic pulses of intravenous MP injected every 4-6 weeks increase the degree of cerebral atrophy of the patients with PP MS. PATIENTS AND METHODS: We studied 11 patients with PP MS treated during 33 months with periodic pulses of intravenous MP. The degree of cerebral atrophy was evaluated in axial cuts of 10 mm of studies of magnetic resonance with the indices of Evans, bicaudate, bifrontal, frontal spears and bithalamic. The statistical evaluation of the results was made applying the test of Wilcoxon-Mann-Whitney. RESULTS: There are not statistically significant differences in the degree of cerebral atrophy with any of the used indices. CONCLUSIONS: Periodic pulses of intravenous MP do not accelerate the cerebral atrophy in patients with progressive forms of multiple sclerosis.
INTRODUCTION: Cerebellar glioblastoma multiforme (CGM) accounts for less than 1% of all intracranial glioblastomas; it spreads quickly locally, above all towards the brain stem and adjacent leptomeninges, and has a poor prognosis. CASE REPORT: We report the case of a 55 year old patient who presented a continuous feeling of dizziness, instability and sickness, with occasionally vomiting and double vision that had started two months before being admitted to hospital. A physical exploration revealed hypaesthesia of the right side of the face, tactile and algesic hypaesthesia in the left side of the body and nystagmus in the bilateral horizontal gaze. Results of the general physical exploration were normal. A magnetic resonance (MR) brain scan revealed a 3 cm expansive lesion in the middle cerebellar peduncle and right cerebellar hemisphere, which was hypointense in T1 and hyperintense in T2. Administering contrast showed it to be heterogeneous, with irregular annular enhancement, and perilesional edema. Subtotal excision of the lesion was performed and pathological analysis allowed a diagnosis of glioblastoma multiforme to be made; radio and chemotherapy were continued. CONCLUSION: CGM is infrequent and 46.7 years is the mean age of onset. 59% of tumours are located in the hemispheres, they tend to spread locally, and remote metastases have also been reported. Initial clinical manifestations are intracranial hypertension, and gait and balance disorders. Differential diagnosis is provided by MR and includes metastasis, infarction and abscesses. Treatment involves radical surgical excision followed by local radiotherapy. The use of chemotherapy has been reported but its role in the treatment of this entity is still not altogether clear.
AIMS: In this study we review the economic impact involved in suffering from this disease in an attempt to determine how it affects both the individual and society, and the potential benefits deriving from its prevention and treatment. DEVELOPMENT: The World Health Organisation and the World Bank have pointed out that 90% of the costs generated by epilepsy are produced in developing countries. Yet in most developed countries the economic impact of the disease remains partially hidden for patients by the existence of publicly funded health service. As regards spending on pharmaceutical products in Spain, the subgroup made up of the antiepileptic drugs accounted for 1.36% of the total spending throughout the year 2001. Nevertheless, the main economic consequence for most patients is the limitation they suffer in their occupational activities, which is inversely proportional to the degree of control over their seizures and considerably higher than in the general population. Moreover, in epilepsy we must not forget the costs linked to its numerous psychological and social consequences. CONCLUSIONS: As happens in other areas of health care, the way epilepsy is attended depends to a large extent on economic factors. Further studies are therefore needed to provide us with a better understanding of the role played by economics in the field of health care.
INTRODUCTION: Leber's optic neuropathy is a hereditary disease that mainly affects young males and is produced by specific mutations of the mitochondrial DNA, which affect the complex I of the mitochondrial respiratory chain. CASE REPORT: An 18-year-old male who presented with a 3-week history of progressive loss of sight in the right eye. Magnetic resonance imaging of the brain revealed numerous hyperintense lesions in the periventricular and subcortical white matter, and the visual evoked potentials showed bilateral optic neuropathy that was mild on the left side and severe on the right side. A spinal tap was performed and oligoclonal bands were detected in the cerebrospinal fluid. In the weeks that followed vision continued to get worse on both sides and the patient had hyalinised vessels in the papilla, with lower amplitude responses bilaterally in the electroretinogram. A genetic study was conducted that revealed a primary mutation 11778 in gene MTND4 and secondary mutation 15257 in gene MTCYB, which were compatible with a diagnosis of Leber's optic neuropathy. CONCLUSIONS: The absence of inflammation of the optic disc, which could lead to the suspicion of a retrobulbar neuritis, must act as a warning to the physician that he or she is possibly before a case of Leber's optic neuropathy, especially when the loss of vision is still progressing, when there is early bilateral involvement or if there is a family history of optic neuritis or multiple sclerosis.
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