No abstract

Diminished activity of uroporphyrinogen I-synthetase in the liver and other tissues may be regarded to be the primary genetic deficiency of acute intermittent porphyria (AIP). Increased production and renal excretion of delta-aminolevulinic acid (ALA) und porphobilinogen (PBG) are secondary phenomena. The neuropsychiatric symptomatology of AIP consists of neuropathy, vegetative crises and exogenous psychoses. In this study electromyographic and neurographic investigations were performed on 20 persons with AIP. 16 patients had experienced attacks of AIP, 10 of them including neuropathy. 4 persons showed the biochemical findings of AIP but had not yet had symptoms. In cases with persistent pareses following porphyric neuropathy denervation signs or sequelae were still present. In patients without clinical symptoms and in latent cases there were normal or borderline findings. Motor nerve conduction velocity was mostly decreased in combination with denervation signs and in a range that indicated a primarily axonal nerve lesion and consequent myelin damage rather than primary demyelinization. The mean motor conduction velocity of n. tibialis was somewhat lower in patients with porphyric crises without neuropathy than in latent cases without any clinical crises. The differences were not significant in other nerves. The findings are discussed under consideration of the electrodiagnostic results of other investigations and of neuropathological and clinical data.

Three cases of deep cerebral vein thrombosis are reported. In all three cases focal neurological deficits and impaired consciousness occurred after a short period of non-specific clinical manifestations. Computed tomography revealed bilateral hemorrhagic infarctions of thalamus and basal ganglia. The CSF analysis which was performed in two cases showed pleocytosis, increased protein level, disturbed blood-brain barrier, and signs of necrosis and hemorrhage. In two cases the diagnosis was confirmed by transfemoral carotid angiography. MRI was performed in one case only and showed thrombosis of the internal venous system. All patients were treated with high-dose heparine in spite of hemorrhage. Good recovery was seen in all patients with almost complete improvement of neurological deficits. No complications were observed during treatment. Because of these promising therapeutic results, bilateral thalamic lesions should alert the physician to consider the possibility of deep cerebral vein thrombosis.

The consumption of the jet set drug Ecstasy (3,4-methylenedioxymetamphetamine, abbreviated to MDMA) by young people is increasing markedly. Parallel to this development, there is a large number of reports on severe neurological, psychiatric and medical complications following the use of Ecstasy. Seizures are among the most common clinical complications of the CNS following the ingestion of Ecstasy. Our report presents the case of a 21-year-old patient, who had a series of grand mal seizures after taking 12 tablets of Ecstasy. 36 hours after ingestion the substance MDMA was demonstrated at a level of 300 ng/ml in the serum and CSF. Following treatment with Clonazepam and under an adequate level of carbamazepine, no further seizures occurred. The diagnosis was difficult because the patient initially denied the consumption of drugs and the routine toxicological screening does not contain the substance MDMA.

Malignant neuroleptic syndrome (MNS) is a rare side effect of antipsychotic medications but means a serious and life-threatening complication. The risk of MNS seems to be lower for second generation antipsychotics (SGA). We report the 9-month history of a 42-year-old female patient whose antipsychotic medication was switched to 800 mg per day of amisulpride. Two weeks after discharge she suffered muscular pain, stiffness, weakness of the legs, rigor, and fever. After attending our outpatient department and being diagnosed, she was transferred to the neurological intensive unit, where the creatine kinase (CK) level was measured at 160,000 U/l. Furthermore extensive rhabdomyolysis accompanied by a compartment syndrome was seen. Surgical intervention was necessary for the latter. The patient was then retransferred to the psychiatric department after treatment with lorazepam and withdrawal of antipsychotic medications. In addition a therapy with valproate sodium was conducted. Long-term high levels of CK and abnormalities in the electromyogram led to the hypothesis of myopathy as a possible risk factor, but a final diagnostic classification was not feasible. This report describes the appearance of a MNS as a consequence of SGA therapy, discusses risk factors and therapy options, and shows the 9-month course.