Diplejía facial aislada en relación con primoinfección por el VIH / Isaolated facial diplegia associated with acute HIV infection

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Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients presented with MSL and myopathy, expressed as limb girdle weakness in index cases and as exercise intolerance in the others. All muscle biopsies performed showed lipid storage apart from RRF and respiratory chain complexes deficiency. A possible explanation for both adipose proliferation and lipid storage myopathy in these cases is a disturbance in intermediary lipid metabolism secondary to mitochondrial respiratory chain deficiency that could be related via carnitine deficiency.

[Psychosis as the initial manifestation of systemic lupus erythematosus: the role of lupus band test and anti-ribosomal antibodies]. / Psicosis como manifestación inicial de lupus eritematoso sistémico: valor de la prueba de la banda lúpica frente a los anticuerpos antirribosomales.

INTRODUCTION: Diffuse brain disease in systemic lupus erythematous (SLE) can be difficult to assess because of the sparse biological expression of the disorder, resulting in usually normal neuroimaging and laboratory findings. For this reason, it is likely that patients without a previous SLE diagnosis that presented initially with a pure psychiatric disorder, as psychosis or depression, can remain undiagnosed, and, in fact, they are exceptionally reported. As a biological marker, antiribosomal P protein antibodies have been closely related to SLE psychosis although their pathogenic role and specificity is under discussion. CLINICAL CASE: A young woman, without relevant medical history, presented with an acute psychotic catatonic picture, suspected organic in nature due to the existence of persistent mild CSF pleocytosis, while neuroimaging and laboratory studies were negative, including antinuclear and antiribosomal antibodies. Finally, a SLE diagnosis could be established because of a strong lupic band phenomenon in skin biopsy. CONCLUSIONS: It is important to maintain a high suspicion of SLE in acute psychotic patients, especially if atypical features are present. As the biological expression of the disorder in such cases may be elusive, we propose the study of lupus band in skin biopsy for these patients, regardless the absence of antiribosomal antibodies.

[Adult onset mitochondrial myopathy without ophthalmoplegia. Four cases attributable to complex III and IV deficits in the respiratory chain]. / Miopatía mitocondrial de inicio en la edad adulta sin oftalmoplejía. Presentación de 4 casos por déficit de complejos III y IV de la cadena respiratoria.

Four adults with proximal myopathy of mitochondrial origin but no ocular involvement are presented. Biochemical analysis showed combined complex III and IV deficits in the respiratory chain in all cases, suggesting an apparent correlation between clinical phenotype and biochemical findings. Mitochondrial DNA analysis of muscle from 1 patient failed to detect either large-scale deletion or point mutations at position 3243 of tRNA(Leu(UUR)) or at 8344 of tRNA(Lys). The tissue specificity of the disease and the absence of family history suggest that a mutation in a nuclear DNA gene encoding a specific subunit of muscle could underlie this disease.

Evoked potentials in mitochondrial disorders.

Twenty-eight adult patients with mitochondrial disease were evaluated with muitimodal evoked potentials (EPs) to assess a possible CNS involvement The patients were classified into five groups: encephalopathy (two cases), progressive external ophthalmoplegia (PEO; four cases), pure myopatby (15 cases), cardiomyopathy (five cases) and asymptomatic relatives (two cases). EPs showed differences between encephalopathy (all EP modalities affected) and PEO groups (all patients with at least one EP altered), with lesser degrees of affection in pure myopathy and cardiomyopathy groups. The asymptomatics registered normal EPs. In view of these results, progressive CNS damage in mitochondriopathies, expressed by abnormal EPs, can be established as follows (from greatest to minor severity): encephalopathy, PEO, pure myopathy/cardiomyopathy and asymptomatic condition.

[Benign amaurosis fugax]. / Amaurosis fugax benigna.

In young patients episodes of amaurosis fugax usually correspond to processes not related with atherosclerosis of the extracranial vessels such as migraine, cardiac embolism, vasospasm, vasculitis, oral contraceptives or hematologic disease. In 11% of the cases, however, no cause can be found. These idiopathic cases generally have a benign course and their frequency decreases spontaneously allowing them to be described as benign amaurosis fugax. We describe four cases of amaurosis fugax in which no responsible cause was found despite extensive clinical, laboratory ultrasonographic and angiographic studies. The episodes progressively remitted. In these cases of benign amaurosis fugax the risk of a permanent deficit is exceptional and treatment is not necessary.

[Natural history of a bilateral carotid dissection]. / Historia natural de una disección bilateral carotídea.

The coexistence of arterial dissection in several cervical vessels is exceptional and is usually an accidental finding detected upon performance of an extensive angiographic examination in patients with unilateral manifestations. The absence of previous clinical manifestations related with asymptomatic vessel dissection impedes the knowledge of the time between the different dissections. The case of a bilateral carotid dissection (CD) is presented in which the clinical course permitted the authors to know the interval between both dissections. The patients initially presented manifestations of right CD and, at 15 days, an ictus due to left CD in which the presence of right unilateral asterixis was of note. The time span between both dissections was established as 12-15 days.

[Multifocal demyelinating neuropathy with persistent conduction blocks and continuous muscular activity]. / Neuropatía desmielinizante multifocal con bloqueos de conducción persistentes y actividad muscular continua.

A patient developed an initially asymmetric sensory-motor neuropathy, with definite predominance in upper limbs. The examination also disclosed a markedly impaired muscle relaxation. The neurophysiological study showed conduction blocks with continuous muscle activity consisting of myokymias fasciculations and muscle cramps which disappeared after the anesthetic block of the distal nerve segments. In the sural nerve biopsy significant abnormalities were not found. After prednisone and carbamazepine therapy in usual doses the symptoms reverted and the conduction blocks persisted. Neuropathy with persistent conduction blocks is an uncommon disease which exceptionally results in a clinically apparent syndrome of continuous muscle activity. Its recognition is important, as symptoms can disappear after correct therapy.