C. Bayreuther

Complex partial status epilepticus revealing anti-NMDA receptor encephalitis

Encephalitis with anti-NMDA receptor antibodies is a recently-recognised form of paraneoplastic encephalitis characterized by a prodromal phase of unspecific illness with fever resembling viral disease, followed by memory loss, psychiatric features, seizures, disturbed consciousness, prominent abnormal movements and autonomic imbalance. Association with ovarian teratoma is common. Neurological outcome can be good, especially when surgery is performed at an early stage. Here, we report a case of anti-NMDA receptor encephalitis associated with ovarian teratoma presenting with inaugural complex partial status epilepticus. The nature of abnormal movements at early stages was unclear and abnormal movements were misinterpreted as the recurrence of partial epileptic seizures. Despite its rarity, all clinicians treating epilepsy and movement disorders should be familiar with anti-NMDA receptor encephalitis, that appears to be a very severe but curable disease.

Choréo-acanthocytose sans acanthocytes

INTRODUCTION Chorea-acanthocytosis (ChAc) is one of the neuroacanthocytosis syndromes which form a group of disorders characterized by the association of neurological abnormalities and spiculated red blood cells called acanthocytes. ChAc patients exhibit involuntary movements, psychiatric abnormalities and progressive cognitive deterioration. We report a case of ChAc in which blood smears failed to demonstrate acanthocytes. CASE REPORT A 26-year-old man presented since two years with hyperkinetic movements. The family history was non contributive, parents were consanguineous. Neurological examination revealed choreatic hyperkinesia and dystonia, predominant in the orofacial region. Mild cognitive decline and behavior abnormalities were noted with repetitive activities. Brain MRI showed striatal atrophy. Molecular testing for Huntingtons disease was negative. Routine biological screening was normal except for elevated CPK and LDH. Copper and ceruloplasmin blood levels were normal, as well as purine metabolism and lipoproteins. Further screening for metabolic diseases showed no significant abnormality. Expression of Kell antigens was normal. In several blood smears no acanthocytes were seen. Electromyographic studies showed slight neuropathic changes. Despite the absence of acanthocytes, chorein western blot was performed on blood samples which revealed an absent or markedly reduced level of chorein in erythrocyte membranes. A mutation of the ChAc gene was thus likely so the diagnosis of ChAc was retained. Genetic studies for VPS13A are pending. DISCUSSION ChAc is an autosomal recessive disorder due to mutations of the VPS13A gene coding for chorein. Absence or late appearance of acanthocytes in ChAc has been described in a few case reports. In conclusion ChAc is a rare disorder in which the presence of acanthocytes is not mandatory. In case of doubt, chorein western blot can be useful.

Brève communicationChoréo-acanthocytose sans acanthocytesChorea-acanthocytosis without acanthocytes

INTRODUCTION Chorea-acanthocytosis (ChAc) is one of the neuroacanthocytosis syndromes which form a group of disorders characterized by the association of neurological abnormalities and spiculated red blood cells called acanthocytes. ChAc patients exhibit involuntary movements, psychiatric abnormalities and progressive cognitive deterioration. We report a case of ChAc in which blood smears failed to demonstrate acanthocytes. CASE REPORT A 26-year-old man presented since two years with hyperkinetic movements. The family history was non contributive, parents were consanguineous. Neurological examination revealed choreatic hyperkinesia and dystonia, predominant in the orofacial region. Mild cognitive decline and behavior abnormalities were noted with repetitive activities. Brain MRI showed striatal atrophy. Molecular testing for Huntingtons disease was negative. Routine biological screening was normal except for elevated CPK and LDH. Copper and ceruloplasmin blood levels were normal, as well as purine metabolism and lipoproteins. Further screening for metabolic diseases showed no significant abnormality. Expression of Kell antigens was normal. In several blood smears no acanthocytes were seen. Electromyographic studies showed slight neuropathic changes. Despite the absence of acanthocytes, chorein western blot was performed on blood samples which revealed an absent or markedly reduced level of chorein in erythrocyte membranes. A mutation of the ChAc gene was thus likely so the diagnosis of ChAc was retained. Genetic studies for VPS13A are pending. DISCUSSION ChAc is an autosomal recessive disorder due to mutations of the VPS13A gene coding for chorein. Absence or late appearance of acanthocytes in ChAc has been described in a few case reports. In conclusion ChAc is a rare disorder in which the presence of acanthocytes is not mandatory. In case of doubt, chorein western blot can be useful.

Dentatorubral-Pallidoluysian Atrophy

The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).

L - 4 Un nouveau cas de neuro-Whipple avec bilan digestif négatif

Introduction Nous presentons un nouveau cas de forme pseudo-tumorale de Neuro-Whipple. Le tableau neurologique est au premier plan alors que le bilan digestif est reste negatif. Observations Il s’agissait d’une patiente de 38 ans, sans antecedents notables, adressee pour le bilan d’une hypersomnie. L’examen neurologique etait normal. L’IRM encephalique montrait un volumineux hypersignal du plancher du troisieme ventricule d’allure tumorale, fortement rehausse apres injection de Gadolinium. Le bilan sanguin ne retrouvait qu’un tres discret syndrome inflammatoire biologique. L’etude du LCR etait normale (nombre d’elements, proteinorachie, marqueurs inflammatoires : index d’immunoglobulines et immunofixation). La PCR Whipple sur le LCR etait fortement positive, ce qui nous permit de poser le diagnostic de certitude. Une monotherapie par Bactrim ® fut debutee rapidement. Une reaction allergique nous obligea ensuite a modifier le traitement par de la Doxycycline. La duree totale du traitement fut de 1 an, et la patiente presenta une evolution favorable rapide tant sur le plan clinique que sur les IRM de controle qui s’etaient rapidement normalisees en quelques mois. Peu de temps apres l’instauration du traitement, un bilan digestif comprenant une endoscopie couplee a des biopsies jejunales avec examen anatomopathologique a ete pratique. Il fut negatif. Discussion Le tableau neurologique prevalent, en l’absence de signes digestifs et articulaires fait toute la particularite de ce cas. La negativite du bilan digestif est etonnante car tres rarement decrite dans la litterature, bien qu’il faille considerer le fait que le traitement a ete instaure avant ce bilan. Certaines topographies doivent faire suspecter le diagnostic. L’evolution favorable sous antibiotherapie est habituelle. Conclusion Le Neuro-Whipple se caracterise par un grand polymorphisme radio clinique. La PCR dans le LCR est le meilleur examen pour poser le diagnostic. L’evolution sous traitement est souvent favorable.

C - 6 Ataxie et prémutation de l’X fragile

Introduction Le syndrome « tremblement intentionnel/ataxie cerebelleuse » chez les porteurs de la premutation de l’X fragile (FXTAS) a ete decrit pour la premiere fois par Hagerman et al. en 2001. Observations Dossier 03/1209. Nous rapportons le cas d’un homme droitier et cantonnier, ne en 1946, sans antecedent personnel ou familial particulier. Il presentait depuis 2002 des troubles de la marche d’aggravation progressive associes a des paresthesies des membres inferieurs. Une ataxie cerebelleuse statique et cinetique avec dysarthrie a ete mise en evidence a l’examen clinique. Le bilan biologique inflammatoire, immunitaire, metabolique, vitaminique, infectieux et neoplasique etait normal a l’exception d’une carence en folates avec la presence d’une mutation homozygote C677T de la MTHFR. L’etude du liquide cephalorachidien etait normale. Les explorations fonctionnelles (potentiels evoques somesthesiques et visuels, l’electromyogramme, et la scintigraphie cerebrale) montraient un allongement du temps de conduction central aux membres inferieurs. Sur l’IRM, les hypersignaux en sequence ponderee (Sp) T2 de la substance blanche cerebelleuse et des pedoncules cerebelleux moyens (epargnant les noyaux denteles) etaient tres suggestifs du FXTAS. Sa recherche, par la technique du Southern Blot, a revele une expansion du trinucleotide CGG de 107 repetitions permettant de poser le diagnostic de FXTAS (premutation definie par un nombre de repetition compris entre 50 et 200). Discussion Le FXTAS (prevalence 1/3000) se manifeste par un tremblement intentionnel et/ou une ataxie cerebelleuse, chez l’homme apres 50 ans, associes ou non a un syndrome parkinsonien et des troubles cognitifs. L’IRM montre des hypersignaux en SpT2 de la substance blanche cerebelleuse, avec atrophie generalisee. A l’examen anatomopathologique, il existe des inclusions eosinophiles intranucleaires neuronales et astrocytaires. Conclusion Le FXTAS doit etre recherche devant une ataxie cerebelleuse tardive idiopathique, chez l’homme apres 50 ans, afin de realiser le conseil genetique pour le FXTAS et le syndrome de l’X fragile.