Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation.

Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129. We now describe a subject with familial Creutzfeldt-Jakob disease, heterozygous for the pathogenic lysine (Lys) mutation at codon 200 and homozygous for Met at codon 129 of the PRNP gene, who was affected by severe insomnia. At autopsy the patient had significant involvement of the thalamus, as previously described in subjects affected by FFI with the codon 178 mutation. This case demonstrates the wide variability of the clinical expressions in patients with the codon 200 mutation, that may include insomnia and thalamic pathology.

Acute intermittent porphyria in pregnancy.

A 27-year-old, previously healthy normotensive woman was admitted for hyperemesis gravidarum and treated with intravenous fluids and metoclopramide. Thereafter, a neuropsychiatric syndrome developed, with acute asymmetrical axonal motor-sensory polyneuropathy and marked anxiety, depression, irritability, and memory and concentration difficulties. Raised porphyrin precursors were found in the patient's urine, but not in her feces. Although the association of acute porphyria and pregnancy is rare, the pregnancy itself, combined with a state of starvation, and the administration of metoclopramide, could have precipitated the acute attack in this case. Thiamine deficiency, Guillain-Barré syndrome, and an obstetric complication producing closely related symptoms were excluded. The drug was stopped and the patient was treated with a high-carbohydrate diet and physiotherapy. A normal infant was delivered spontaneously at term.

Brainstem auditory evoked potentials in experimental autoimmune dementia.

Cognitive dysfunction may be induced in rats by immunization with cholinergic neuronal antigens and is associated with degeneration of nuclei in the septum and hippocampus and white matter tracts in the forebrain. Such rats are a putative model of Alzheimer's disease named experimental autoimmune dementia (EAD). The aim of the present study was to investigate brainstem auditory evoked potentials (BAEP) in EAD rats in order to define the extent of white matter tract involvement in this model. Clear reproducible evoked potentials were obtained and the normal range of BAEP in rats was established in adjuvant immunized controls. Measurements of inter peak latencies (IPL) I-IV in 9 EAD rats revealed that they were not significantly prolonged (3.00 +/- 0.22 ms, mean +/- S.E.M.) compared to 9 controls (2.80 +/- 0.08 ms), (P > 0.2, Student's t-test). The lack of significant change in IPL I-IV is compatible with preliminary histological findings and indicates that brainstem structures are generally unaffected in EAD.

Antibodies to Epstein-Barr virus in neurological diseases.

An association of evidence of Epstein-Barr virus (EBV) infection in 3 different cases of neurological disease not related to infectious monomucleosis is reported. A rise in antibody titres to EBV-viral capsid antigen (VCA) and early antigen (EA) in the serum and CSF was demonstrated in a patient with acute encephalitis and in a patient with a psychotic-like organic brain syndrome. Both patients demonstrated albuminocytological dissociation in the cerebrospinal fluid. IgM antibodies specific to EBV-VCA indicating a primary infection by EBV were found in both patients. In the second, concomitant infection with HSV1 probably preceding EBV infection was found. In the third patient with polyneuritis, elevated antibody titres to EBV-VCA were demonstrated. No evidence of penetration of antibodies to EBV through the blood-brain barrier, resulting from the elevated level in the serum, was demonstrated.

Brainstem auditory evoked response in newborns and infants.

Brainstem auditory evoked response studies were carried out on 105 neonates, with gestational ages ranging from 26 to 43 weeks. The mean chronologic and postconception ages of the subjects were 6.5 weeks and 40.6 weeks, respectively. Statistically significant relationships between brainstem auditory evoked response and gestational age, postconception age (gestational age plus chronologic age), and the 5-minute Apgar score, were demonstrated. Shortening of brainstem auditory evoked response as related to postconception age was demonstrated and this trend was statistically significant. However, of these factors a statistically significant shortening (maturation) of evoked response was demonstrated only in relation to postconception age.

Mild form of acute herpes simplex encephalitis in childhood.

We describe two patients, aged 3.5 years and 15 years, with a mild form of herpes simplex encephalitis (HSE). The disease was characterized by convulsions and lymphocytic pleocytosis in the cerebrospinal fluid (CSF). Involvement of herpes simplex virus (HSV) was established by antibody measurements in serum and CSF. Recovery was complete with no antiviral drug administration. It appears that scrutinized serological work-up would widen our concept of mild forms of HSE, with a better prognosis and complete recovery.

Secondary amenorrhea in two sisters with hypogonadotropic hypogonadism and progressive cerebellar ataxia.

The association of familial hypogonadism with progressive cerebellar ataxia is only rarely encountered. Both primary hypergonadotropic and secondary hypogonadotropic hypogonadism may appear with cerebellar ataxia. However, many of these patients suffer from a variety of neurological and/or somatic malformations. Females, which are relatively rarely affected, display primary amenorrhea. In this report, two sisters presented with secondary amenorrhea prior to the appearance of progressive cerebellar ataxia and were found to have hypogonadotropic hypogonadism. This unique family displays clinical evidence for the presence of a possible common mechanism responsible for progressive hypothalamic and cerebellar impairment of late onset.

Progressive deterioration of brainstem auditory evoked potentials in Creutzfeldt-Jakob disease: clinical and electroencephalographic correlation.

Brainstem auditory evoked potentials (BAEP) were recorded and correlated with the clinical and electroencephalographic (EEG) findings in three verified cases of Creutzfeldt-Jakob disease (CJD). In contrast to previous reports, there was progressive deterioration of the BAEPs, through initial asymmetry of wave latencies to abnormal wave morphology, and increased interpeak latencies. Consequently, in two of the patients, disorganization of the wave pattern and generalized conduction-time slowing appeared by the time there was a fully developed clinical picture of CJD with periodic EEG waves. In the third, clinically mild CJD, asymmetry of wave latencies in the BAEP emerged, correlating with the appearance of periodicity on EEG. Our findings are consistent with the late, progressive involvement of the brainstem by the pathological process in CJD.

Incomplete Kluver-Bucy syndrome and fluent aphasia.

A case of probable herpetic viral encephalitis is presented. The clinical picture following the acute phase of disease was dominated by severe fluent aphasia, prominent oral tendencies, visual agnosia, and a decrease in fear reactions. Most of these symptoms, with the obvious exception of aphasia, are similar to those observed by Kluver and Bucy in rhesus monkeys that underwent bitemporal lobectomy. These manifestations may be explained by the tendency of the herpes simplex virus to invade the temporal lobes. "Agnosia" in the auditory field and changes in vocal behavior were observed by H. Kluver and P. C. Bucy (1939, Archives of Neurology and Psychiatry, 42, 949-1000) in some of their bitemporal monkeys. The association of sensory aphasia, as observed in this case, with the auditory "agnosia" observed in some bitemporal monkeys, is discussed.

Acute transverse myelitis, a possible vascular etiology.

Seven acute transverse myelitis patients are presented, in whom the course of illness suggests a vascular pathogenesis. In the absence of predisposing risk factors for vascular accidents and such systemic symptoms as occur frequently in vasculitic syndromes, association in hypothesized with isolated angiitis of the central nervous system. Combined treatment with corticosteroids and cyclophosphamide is, therefore, suggested for severe cases of acute transverse myelitis, in whom no etiology can be found.

Therapy-resistant seizures in pseudohypoparathyroidism. A case report.

A 30 year-old, mentally retarded female presented with uncontrolled seizures. The diagnosis of pseudohypoparathyroidism was established on grounds of clinical, laboratory and radiological evaluation. Despite normalization of serum calcium levels with vitamin D treatment, the patient continued to suffer from frequent convulsions. The possible pathogenesis of the therapy-resistant seizures and the therapeutic approach are discussed.

"Alice in wonderland" syndrome: a manifestation of infectious mononucleosis in children.

The association between "Alice in Wonderland" Syndrome (AWS) and infectious mononucleosis (IM) has been previously described in three patients.We describe two additional cases in children, where in one case, the visual symptoms of AWS appeared during the course of active IM and in the second, 2 weeks following a clinically mild, but serologically proven attack.

Common hemisphericity of language and music in a musician. A case report.

Aphasia coupled with amusia is reported in a 73-year-old male musician who was a lawyer by profession. This condition followed an ischemic stroke in the lateral aspect of the parieto-occipital region of the left hemisphere. The patient's music production exhibits jargon amusia, similar to that in his verbal production. This case supports the thesis that language and music may share a common hemisphere.

[Ciprofloxacin-associated bilateral acute achilles tendinitis].

Bilateral achilles tendinitis developed in a 40-year-old man following treatment with Ciprofloxacin, 500 mg twice a day, for prostatis. The signs of tendinitis resolved 6 weeks after cessation of the drug. In recent years very few cases of this rare complication have been reported. In some cases it results in a torn achilles tendon. If diagnosed early, complete recovery usually follows about 6 weeks after cessation of the drug.