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We report 62-year-old female patient with coincident posterior reversible encephalopathy syndrome (PRES) and Guillain-Barré syndrome (GBS). The first presentation of PRES was a generalised tonic-clonic seizure. A risk factor for PRES was acute arterial hypertension. The diagnosis of PRES was established by MRI (magnetic resonance imaging) and hypertension was treated with labetalol 800mg daily followed by regression of symptoms of PRES. Two days after the seizure the first motor signs of GBS presented with a weakness in both upper arms. The diagnosis of GBS was finally established 6 days after the seizure by clinical evolution, lumbar puncture and electrophysiological findings. After treatment of GBS with intravenous immunoglobulins (IVIg), antihypertensive therapy could be phased out and finally stopped. The patient was discharged after 25 days without any medication. At that time she was completely recovered from PRES and recovering well from GBS. The acute arterial hypertension, the provoking factor of PRES, was probably caused by an autonomic dysfunction in the context of GBS before motor signs of GBS were present but we speculate also that there are other GBS related factors playing a role in PRES. This hypothesis is based on the relatively high coincidence of these two rare syndromes which appears from a review of the literature. One other possible mechanism can be the influence of cytokines, produced in the context of a GBS, on the permeability of blood brain barrier.

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We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT patients of Belgian ancestry. Allele-sharing analysis of markers flanking the MPZ gene indicated that all patients with the Thr124Met mutation have one common ancestor. The mutation is associated with a clinically distinct phenotype characterized by late onset, marked sensory abnormalities and, in some families, deafness and pupillary abnormalities. Nerve conduction velocities of the motor median nerve vary from <38 m/s to normal values in these patients. Clusters of remyelinating axons in a sural nerve biopsy demonstrate an axonal involvement, with axonal regeneration. Phenotype-genotype correlations in 30 patients with the Thr124Met MPZ mutation indicate that, based on nerve conduction velocity criteria, these patients are difficult to classify as CMT1 or CMT2. We therefore conclude that CMT patients with slightly reduced or nearly normal nerve conduction velocity should be screened for MPZ mutations, particularly when additional clinical features such as marked sensory disturbances, pupillary abnormalities or deafness are also present.

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In developed countries with a low incidence of tuberculosis, infection with Mycobacterium tuberculosis is easily overlooked as the cause of meningitis in an immunocompetent adult. Two cases are presented, with emphasis on the main reasons for delay of diagnosis. Neuroradiology revealed a progressive hypertrophic basal meningitis. The clinical and radiological outcome was good after tuberculostatic and corticosteroid treatment.

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A 46-year-old woman suffered a meningococcal meningitis followed by a rapidly progressive lumbosacral pluriradicular syndrome. Myelography showed multiple nodules on the lumbar radices. A biopsy showed tissue with numerous Verocay-like bodies, spindle shaped and lymphocytoid cells which was diagnosed as schwannoma. There was a small group of polygonal cells with somewhat irregular and hyperchromatic nuclei. Postoperatively, she developed intracranial hypertension and died. CT scan and MRI revealed multiple occipital lesions consistent with metastases. At autopsy the cauda equina showed multiple nodular lesions with morphology comparable to the biopsy. However, pigment producing cells were also present. There were metastases with distinct morphological features in the brain, myocardium, thyroid gland and pancreas. Some consisted of pigmented, large, pleomorphic cells, others of non-pigmented, spindle-shaped and less pleomorphic cells. In this case, the diagnosis of metastasizing pigmented schwannoma is the most plausible hypothesis.

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A muscle carnitine deficiency was discovered in a 67-year-old retired factory worker with a clinical picture of late-onset myopathy. The diagnosis was made by muscle biopsy and free carnitine assay. Therapy including a medium chain triglycerides diet and 6 g/day of D, L-carnitine per os produced a remarkable clinical improvement confirmed by a control muscle biopsy 15 months later. Our patient is the oldest one described with muscle carnitine deficiency. The differential diagnosis of a late-onset myopathy should include lipid myopathies, some of which can be treated successfully.

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In a sibship of ten, three brothers presented with an adult form of ceroid-lipofuscinosis. The diagnosis was confirmed by necropsy of the first patient and was made by electron microscopy of eccrine sweat glands and of skeletal muscles in the two others. Somatosensory evoked potentials were characterised by biphasic, nearly monophasic, very high voltage complexes totally unlike those found in normal controls. Similar sensory evoked potentials were however recorded in other types of ceroid-lipofuscinosis. While electron microscopy of easily available tissues gives fairly specific results, sensory evoked potentials can bring supportive diagnostic evidence in adult ceroid-lipofuscinosis.

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Neurophysiological studies were performed in 5 patients in two families suffering from adrenomyeloneuropathy (AMN). The diagnosis was supported by electron microscopy of nerve twigs in all cases and by the demonstration in 2 cases of increased levels of saturated very long chain fatty acids in cultured fibroblasts (Moser, personal communication). Measurements of the sensory-motor conduction velocities demonstrated the variability of the peripheral nerve damage in AMN, further confirmed by quantitative studies of sensory nerve biopsies. Somatosensory evoked potentials (SEP) were abnormally delayed and their configuration was abnormal, mainly following stimuli applied to the lower limbs. Our data suggest a more severe involvement of the fasciculus gracilis and an extension of the lesions to the medial lemnisci in agreement with the few postmortem reports showing multifocal demyelination. Brain stem auditory evoked potentials (BAEP) were delayed, pointing towards lesions between cochlear nerve and superior olivary nucleus and also at lateral lemniscal level. Morphological confirmation is lacking but the close topographical relationship between the secondary auditory pathways and the medial lemnisci indicates that even small lesions could damage simultaneously both pathways. Neurophysiological studies contribute to the diagnosis of AMN, they confirm the inter- and intrafamilial variability of the clinical features and help to explain the signs and symptoms of this condition.

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Serum N-acetyl-beta-D-hexosaminidase is compared quantitatively and qualitatively in 14 obligate heterozygotes for the mutant gene causing I cell disease (ICD) or mucolipidosis II and in 31 normal controls. The average specific activity in either group is significantly different but reliable heterozygote detection cannot be achieved because of some overlapping of the ranges of individual results. Fractionation of the enzyme either by DEAE cellulose column chromatography, or by heat inactivation, yields a typical average result for each genotype. Also, mere expression of the various components as percentages of the total activity is not useful for certain identification of the ICD heterozygote. There is considerable overlapping of the percents hexosaminidase I1 and A in both groups of sera. If enzymatic hydrolysis by any component is expressed as a partial activity, a much better though not absolute distinction between the ICD heterozygote and the normal control becomes possible. Only the latter way of expression of hexosaminidase results makes distinction between the ICD heterozygote and the Tay-Sachs heterozygote very probable.

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