[Anti-NMDA receptor encephalitis with unilateral hemispheric affectation]. / Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

TITLE: Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

[Advances in the treatment of lysosomal diseases in infancy]. / Avances en el tratamiento de las enfermedades lisosomales en la infancia.

AIMS: The treatment of lysosomal diseases has undergone a number of significant changes in recent decades. Here we review the different therapeutic approaches that can be used: the well-consolidated haematopoietic stem-cell transplants (HST) and enzyme replacement therapy (ERT), the new therapeutic strategies with small molecules such as substrate reduction therapy (SRT) or enzyme 'enhancement' therapy (EET) and experimental approaches like gene therapy. DEVELOPMENT: We review the status of ERT in general and more particularly in Gaucher disease, Fabry disease, mucopolysaccharidosis type I, Pompe disease and the first stages of Hunter disease and Maroteaux-Lamy syndrome. Their outcomes, indications, safety and side effects are also evaluated. We examine the value of HST in these diseases and more particularly in Hurler syndrome, Maroteaux-Lamy syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and Gaucher disease. The initial results from using SRT, EET and with gene therapy are briefly outlined. CONCLUSIONS: A great deal of progress has been made in the treatment of some lysosomal diseases in recent decades due to careful use of HST and ERT. Furthermore, the application of the latest therapeutic instruments such as SRT and EET opens up new perspectives in this field.

CNS sequelae in Langerhans cell histiocytosis: progressive spinocerebellar degeneration as a late manifestation of the disease.

Central nervous system involvement in Langerhans cell histiocytosis (LCH), formerly known as histiocytosis X, is manifested mainly by diabetes insipidus reflecting local infiltration of Langerhans cells into the posterior pituitary or hypothalamus. We describe two patients with progressive spinocerebellar degeneration appearing 4 and 6 years after the initial diagnosis of LCH. No correlation was found between the clinical course of the disease or its treatment and the neurological impairment. An extensive search for metabolic, toxic, neoplastic, and hereditary etiologies for progressive cerebellar degeneration was negative.

[A case of mixed (parenchymatous meningo-basal) neurocysticercosis]. / Presentación de un caso de neurocisticercosis mixta (parenquimatosa-meningobasal).

INTRODUCTION: Cysticerosis is the commonest parasitic disease to affect the central nervous system (CNS). Distribution is universal. It is endemic in many developing countries and in the Third World. CNS cysticercoses or neurocysticercosis may be classified according to its site in three main groups: parenchymatous, extra-parenchymatous and mixed. The clinical features vary from casual findings to fulminating encephalitis. The commonest presenting symptoms are intracranial hypertension (HIC) in the extra-parenchymatous forms and convulsions in the parenchymatous forms. CLINICAL CASE: We present the case of an eight-year-old Peruvian boy with the clinical features of progressive intracranial hypertension. Cerebro-spinal fluid (CSF) serological and neuro-imaging findings were compatible with mixed neurocysticercosis (parenchymatous calcifications and an active meningobasal lesion). We also describe the neuro-radiological changes seen in the course of the illness of our patient after treatment with albendazol. These are mainly the reduction in size and progressive calcification of the active meningobasal lesion. CONCLUSIONS: We propose a neuro-radiological classification based on that of Carpio et al as a method of helping to decide on anti-parasitic treatment. We emphasize the importance of the findings on cranial magnetic resonance (MR), using gadolinium to differentiate the various stages of the disease. Finally, we draw attention to the possible increase in this disease in our environment, due to the current increase in migration from endemic areas of Latin America.

[Evolutive neuroradiological alterations in Sandhoff's disease]. / Alteraciones neurorradiológicas evolutivas en la enfermedad de Sandhoff.

Sandhoff's disease is a severe form of gangliosidosis GM2 which presents in the first year of life, basically as progressive psychomotor retardation and/or a macular red cherry spot. Our patient presented the clinical picture characteristic of the disease. Diagnosis was confirmed by determining the activity of hexosaminidases A and B in serum and of beta-N-acetil hexosaminases in fibroblast culture. In view of the fatal prognosis of the disease, in 1991 a transplant of alogenic bone marrow (TMO) was carried out to try to replace the enzymes. This required exhaustive radiological follow-up to determine the possible neuro-radiological changes seen in this storage disease. Although treatment was not successful, the neuro-radiological findings may be of interest as perhaps being characteristic of the GM2 gangliosidosis: 1. Bilateral thalamic hyperecogenity in the cerebral ecography. 2. Differences between the thalamo-putamen densities due to bilateral homogeneous thalamic hyperdensity on the CT scan. 3. Thalamic hypointensity both on T2 sequences and in proton density on MR with the cerebral white matter being progressively affected. In conclusion, we suggest that bilateral symmetrical thalamic changes are an early finding which is probably specific to the GM2 gangliosidoses and may be useful from the point of view of carrying out more specific investigations in infants suspected of having a degenerative neurological disorder.