Biomedical subjects
Publications and source records attributed to X Ferrer.
The authors describe the case of a 12 years old boy suffering from an epilepsy with complex partial seizures evolving to a syndrome of epilepsy with continuous spikes-waves during sleep. A dramatic improvement follows clobazam introduction in the treatment. The originality of this case report and the possible mechanism of action of clobazam are discussed.
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In two cases with recurrent palsies, the results of electrophysiological studies led to nerve biopsy showing typical tomacula. The first case was an inherited neuropathy with liability to pressure palsies. The second case was an apparently sporadic painless recurrent brachial neuropathy. Electrophysiological alterations were diffuse and sensory fibres of the median nerve between index and wrist were the most involved. Conduction blocks were observed without palsy in narrow anatomical passageways where nerve compressions are frequent (ulnar nerve at the elbow, peroneal nerve at the fibula). A compression by a neighbouring anatomical structure could make the prognosis worse and justify nerve decompression. The nerves with slowest conduction have the most important risk of palsy and the patients should be given advice to avoid their compression.
Three patients developed a progressive flaccid paraparesis without sensory or sphincter disturbances, following radiotherapy for lymphoma in two cases and carcinoma of testis in one case. The course was progressive with stabilization between two and four years. Electrophysiological study suggested anterior horn cell damage the mechanism of which remains unclear.
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A 59-year-old man developed a sensorimotor neuropathy of the upper and lower limbs, associated with a biclonal gammopathy, within the space of a few months. Each of two paraproteins was coupled with a distinct IgM kappa IgG lambda light chain. Examination of a nerve biopsy specimen by electron microscopy revealed a demyelinative process with a widening of the interlaminar space in the myelin sheath, as well as deposits of amyloid substance between nerve fibers. Direct immunofluorescence revealed the presence of IgM and of the kappa light chain in certain Schwann cells, while the lambda IgG was fixed to the amyloid deposits. Immunoperoxidase histochemistry showed a positive reaction in normal human nerve tissue to the immune serum IgM and kappa light chain. The findings suggest that the widening of the interlaminar space of the diseased myelin corresponds to an active fixation of immunoglobulin on the sheath of the Schwann cell. The presence of two light chains in this patient's gammopathy caused a dual pathology: the kappa chain, a demyelinative neuropathy, and the lambda chain, a primary amyloidosis, with deposits in the peripheral nerve and in the kidney.
In both the cases described, painful ophthalmoplegia was the first indication of infiltration of the cavernous sinus by a lymphosarcoma. The onset of symptoms and the course of the disease were different in the two cases. CT scan which has been the crucial investigation for detecting lymphomas in the cavernous sinus, was normal in the early stages. Symptomatic remission could be obtained with treatment, although the prognosis remained poor.
A chronic demyelinating neuropathy with "benign" IgM gammopathy was followed for 6 years in a 63-year-old man. The clinical, biologic, and EMG aspects were similar to those already reported, but a lymphoplasmocytic infiltrate in the nerve connective tissue of this patient has only rarely been observed in benign IgM gammopathy. The paraprotein was not evident in the serum until 5 years after symptoms of the neuropathy started.
Clinical, electromyographic and neuropathological studies were carried out at different stages of evolution of a familial amyloid neuropathy in 6 members of 3 families of French origin. The clinical onset was marked by sensory symptoms and signs in limb extremities, primary manifestations being alterations in pain and thermal sensitivity. This was followed by motor and amyotrophic disorders predominant in the lower limbs. Autonomic nervous system disorders were frequent later. Early electromyographic signs were diminished amplitude and increased duration of sensory potentials. Progression of the disease is shown by the onset of signs resulting from severe axonomyelinic lesions. Neuromuscular biopsy demonstrated the presence of amyloid deposits in the endoneurium in 5 of the 6 cases. Transmission appeared to be dominant autosomal. These cases pertain to group I of the amyloid neuropathies. The axonal lesions marking the onset of the affection could be secondary to biochemical alterations in prealbumin, responsible for amyloid formation. This hypothesis affords a basis for plasmapheresis which has been used in 3 patients.
A patient with no previous relevant history presented with recurrent cerebral hemorrhages of which he died 4 years 5 months after the onset. On autopsy, an amyloid angiopathy was present and localised to the cerebrovascular system. Hemorrhages were associated with some small infarcts in the subcortical regions. The leptomeninges and the cortical arteries were mostly involved by an infiltration mainly in the adventitia and media. There were no senile plaques in the cortex. The amyloid deposit present in the senile plaques and in the vessel walls of the amyloid angiopathy could be the result of two distinct pathological processes.
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A patients is reported with a progressive neurological disease which started at the age of 19 years and included spasmodic paraplegia, urinary disorders, impotence and neuropathic signs. The neurological syndrome was associated with adrenal failure. The disease led to death within 5 years. In this characteristic picture of adrenomyeloneuropathy, biopsy of peripheral nerve disclosed lamellar inclusions in the Schwann cell cytoplasm. Such structures, which have already been observed in the sural nerve of some adrenoleukodystrophy cases reported previously, are described for the first time in a case of adrenomyeloneuropathy.
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The bifurcated needle vaccination method used successfully against smallpox is a relatively simple technique that can be administered by personnel with only basic preparation and a minimum of training. This fact suggests that it could prove useful in campaigns of BCG vaccination against tuberculosis--especially for vaccination of newborns. With this end in mind, two studies were carried out in Santiago, Chile, to examine previously reported difficulties with the method and to assess its potential as an alternative to the best current method, that of intradermal inoculation. These studies indicated that previously reported variations in the results achieved by different vaccinators could be markedly reduced. However, they also found that the bifurcated needle method did not cause a sufficiently large dose of vaccine to enter the subject--even when fifteen needle strokes and a highly concentrated vaccine (160 mg per ml) were employed. It was thus concluded that although modification of the needle or other changes might ultimately yield satisfactory results, the bifurcated needle technique cannot yet be recommended for BCG vaccination of newborns.
A 21-year old women with rhizomelic muscular deficit and signs of hypercapnia developed acute respiratory failure. Laboratory tests revealed high creatine kinase activity, and electromyograms showed myogenic patterns with a few myotonic discharges. Biopsy of the quadriceps muscle elicited major vacuolar myopathy with glycogen overload. Acid maltase activity was undetectable in muscular tissue. After 7 months on high-protein diet (1540 calories, 37% proteins) there was no clinical or biochemical improvement. The other published cases of acid maltase deficiency treated with high-protein diet are discussed.
The authors recently reexamined the peripheral nerve biopsies from 42 patients with chronic inflammatory demyelinating polyneuropathy (CIDP). There were 27 males and 15 females, aged from 9 to 84 years, and 13 had relapses. No patient had vasculitis, monoclonal gammopathy, tumor, diabetes mellitus, Lyme disease, familial neuropathy, HIV, or any other immune deficiency. In the endoneurium, perivascular inflammatory cell infiltrates were present in only one case, but scattered histiocytes marked by KP1 on paraffin-embedded fragments were present in every case and there were no T-lymphocytes. At ultrastructural examination macrophage-associated demyelination was observed in 17 cases, of which 6 had relapses separated by intervals of several months or years. Axonal lesions without associated primary demyelination were observed in 4 cases and 3 of these had relapses. Thirty-two patients had mixed lesions of demyelination and axonal involvement. This study confirms other recent data indicating that in all cases of CIDP, macrophages are present in the endoneurium. Macrophage-associated demyelination is the characteristic feature of demyelinating forms. On the other hand, isolated primary axonal forms, which have been known since 1989, are relatively frequent and prone to relapses.
We report the neuropathological data from a familial case of chorea-acanthocytosis with central and peripheral nervous system involvement. At the age of 34, the patient underwent a peripheral nerve biopsy which was analyzed by light- and electron microscopy. These studies showed a selective reduction in the large diameter myelinated fibre population, with several clusters of regeneration. Remyelinating fibers surrounded by flattened Schwann cell processes were also present. The patient died at the age of 44, and post-mortem macroscopic examination of the brain showed marked atrophy of the caudate. Histological examination of paraffin sections showed almost complete depletion of neurons in the caudate, with severe astrocytic gliosis. The putamen and pallidum were slightly less severely depleted of neurons, but with marked astrocytic gliosis. Diffuse mild gliosis was also evidenced, by immunohistochemistry with anti-GFAP, in the thalamus and subcortical white matter.
In the necropsy exam of the brains of 13 patients with acquired immune deficiency syndrome (AIDS) cerebrovascular lesions were seen in 5 cases, three of them having AIDS encephalopathy. Hyalinosis was noted in 3 cases, and endarteritis obliterans and fibrinoid necrosis in one case each; both of them had associated perivascular lymphocytic infiltrates. Cerebral infarction was observed in one case, but no hemorrhages were seen. The neuropathological anomalies in four children affected with the AIDS are reported too, being an extensive calcified vasculopathy and changes suggesting active AIDS encephalopathy the main findings.