[Usefulness of molecular genetic analysis of the PRNP gene in patients with cerebellar ataxia: a new case of fatal familial insomnia]. / Intérêt de l'étude génétique du gène PRNP devant un syndrome cérébelleux: à propos d'un nouveau cas d'insomnie fatale familiale.

We report the fifth French case of fatal familial insomnia, characterized by a mutation at codon 178 of prion protein gene and by heterozygoty (Met/Val) at codon 129. The clinical picture included cerebellar ataxia, dysautonomia and frontal lobe syndrome. Prion protein gene analysis was performed in order to support a diagnosis of Creutzfeldt-Jakob disease and assert the diagnosis of fatal familial insomnia. Neuropathologic analysis showed unusual changes including severe neuronal loss in the inferior olive and the dentate nucleus, and absence of obvious lesions in the thalamus. Moreover, spongiform changes were moderate in the superior temporal cortex and the occipital cortex. There was no spongiform change in frontal cortex. Abnormal prion protein (PrP(res)) was mainly evidenced in the parietal cortex. Molecular genetic study of the PRNP gene should be performed in patients who present with a cerebellar ataxia of equivocal origin.

[Post-traumatic medial nerve injury due to a foreign body]. / Lésion post-traumatique du nerf médian et corps étranger.

A case of delayed injury to the median nerve by glass fragment is described. A median nerve palsy developed 3 years after a minor injury, totally forgotten by patient. A 34-year-old patient presented with a painful progressive median nerve lesion, with a Tinel sign just below elbow. Surgical exploration revealed a glass fragment in close proximity to median nerve. The foreign body was removed. Improvement was noted immediately, but the patient continues to have slight paresthesiae in the fingers 1 year later.

Chronic inflammatory demyelinating polyneuropathy: immunopathological and ultrastructural study of peripheral nerve biopsy in 42 cases.

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.

[Crossed aphasia disclosed by central auditory disorder]. / Aphasie croisée révélée par un trouble central de l'audition.

A 80-year-old woman, right-handed, suddenly felt the impression to be deaf. Besides, she presented language disorders of aphasic type relating to a sensorial transcortical aphasia. The case meets the diagnostic criteria for crossed aphasia. The magnetic resonance imaging showed a right temporo-parietal infarct. There was no sensorial or peripheral auditive disorder and no auditory agnosia of non verbal modality. During the evolution, the aphasic symptoms diminished partially and the subjective auditory deficit of the left ear continued. The integrated auditory evaluation (neuroacoustic test, study of auditory gnosia, dichotic listening test, evoked cortical auditory potentials) allowed the evidence of the characteristic disturbances of a right hemianacousia: loss of left hear in dichotic audition, decrease of amplitude of evoked right cortical auditory potentials. In the light of theories concerning auditory integration, one can explain this evolution. The initial aphasic comprehension disturbance expresses the alteration of the linguistic treatment of auditory information of the dominant hemisphere, here the right hemisphere. Subsequently, the linguistic disturbance regresses largely, letting persist the change of general auditory treatment. The representation of this general auditory treatment is hemispheric bilateral, the only right hemispheric damage shall result in hemianacousia.

Inflammatory demyelinating lesions in two patients with IgM monoclonal gammopathy and polyneuropathy.

We report two patients with polyneuropathy and IgM monoclonal gammopathy in whom peripheral nerve biopsy showed the widening of myelin lamellae which is characteristic of IgM paraproteinaemic neuropathy. Moreover, certain myelinated fibres were invaded by histiocytes overloaded with myelin debris, and in some instances elongated macrophage processes could be seen peeling away the myelin lamellae. The latter ultrastructural features are characteristic of inflammatory demyelinating polyneuropathies in both human and experimental pathology. Such an association has not been reported to date in human pathology, but could explain the prevalence of inflammatory demyelinating lesions in experimental models of IgM paraproteinaemic neuropathy. These two cases seem to bridge the gap between inflammatory demyelinating polyneuropathies and polyneuropathies associated with IgM monoclonal gammopathy.

Relapsing inflammatory demyelinating polyneuropathy in a diabetic patient.

Inflammatory demyelinating polyradiculoneuropathies exhibit well-known ultrastructural lesions of the peripheral nerve, both in acute cases, i.e., Guillain-Barré syndrome, and in relapsing, sub-acute and chronic cases. We present a case of relapsing inflammatory demyelinating polyradiculoneuropathy in a diabetic patient with a biopsy exhibiting these lesions, as well as a widening of the outermost myelin lamellae in some fibers. Such associated lesions are classic in experimental inflammatory demyelinating polyradiculoneuropathies, but have not been reported in human pathology.

[Hashimoto's thyroiditis and myoclonic encephalopathy. Pathogenic hypothesis]. / Thyroïdite d'Hashimoto et encéphalopathie myoclonique. Hypothèses pathogéniques.

A 49 year old caucasian female with Hashimoto thyroiditis, developed during two years a neurological disorder with tonic-clonic and myoclonic seizures and confusional states. Some attacks were followed by a transient postictal aphasia. Some parallelism was noted between the clinical state and TSH levels. Neurological events disappeared with the normalisation of thyroïd functions. This association of Hashimoto thyroiditis and myoclonic encephalopathy has been rarely published. Pathogenesis could be double. Focal signs could be due to an auto-immune mechanism, perhaps through a vasculitis. A non-endocrine central action could explain diffuse signs: tonic-clonic seizures, myoclonus and confusional episodes.

[A case of Jakob-Creutzfeldt's disease (form of Heidenhain) electrophysiological, clinical and anatomical correlations (author's transl)]. / Corrélations électrophysiologiques, cliniques et anatomiques dans un cas de maladie de Creutzfeldt-Jakob (forme de Heidenhain).

We report a case of Jakob-Creutzfeldt's disease (amaurotic form of Heidenmain's disease) showing typical clinical, anatomical, microscopic and electrophysiologic (E.E.G, polygraph sleep recordings, Evoked Potential) signs. Changes in visual Evoked Potentials were quite specific whereas Auditory and Somesthesic E.P'. were not modified. Early elements (O, I, II, and III having a latency of less than 100 ms) were strongly developed, while later elements of the associative type were absent. The precociousness and specificity of the E.P. abnormalities are stressed in the differential diagnosis of J.-C's disease from other insanities, or from cortical blindness of other aetiology. The physiopathologic implications of electrophysiological data is discussed to illustrate the possibility of using Evoked Potentials to help resolve the problems of functional cerebral stratigraphy in man.

[Evolutive aspects of cerebral vascular complications. Tomodensitometric study]. / Aspects évolutifs des accidents vascularies cérébraux. Etude tomodensitométrique

Seventy patients with clinical evidence of cerebral vascular accidents were studied by tomodensitometry. Forty-eight had clinical signs of acute ischaemia and, by means of 64 investigations, it was possible to follow the development of focal softening. Diagnostic difficulties encountered in the course of the first fortnight of development are described. Twenty-two patients exhibited clinical symptoms of meningeal or cerebro-meningeal haemorrhage. Eighteen haematomas were diagnosed and their development studied in 34 investigations.