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INTRODUCTION In young patients with mononeuropathy who lack family history and precipitating factors, hereditary neuropathy with liability to pressure palsy (HNPP) may be a possibility. Our objective is to propose neurophysiological criteria for HNPP in patients

In young patients with mononeuropathy who lack family history and precipitating factors, hereditary neuropathy with liability to pressure palsy (HNPP) may be a possibility. Our objective is to propose neurophysiological criteria for HNPP in patients30 years of age.We conducted a national multicenter retrospective clinical and neurophysiological study in patients under 30 with genetically confirmed HNPP.All of the 51 patients included in the study had at least 1 demyelinating pattern in 2 asymptomatic nerves, and 3 abnormalities were found in almost 90%, including slowed motor nerve conduction velocity across the elbow in at least 1 ulnar nerve (97.5%), increased distal motor latency (DML) in at least 1 fibular nerve (95.8%), and increased DML in both median nerves (89%). Age influenced DML slightly only in the fibular nerve.Dissemination of nerve involvement in HNPP incites to perform a complete nerve conduction study. including bilateral ulnar, fibular, and median nerves. Muscle Nerve 57: 217-221, 2018.

Sensory neuronopathies (SNNs) encompass paraneoplastic, infectious, dysimmune, toxic, inherited, and idiopathic disorders. Recently described diagnostic criteria allow SNN to be differentiated from other forms of sensory neuropathy, but there is no validated strategy based on routine clinical investigations for the etiological diagnosis of SNN. In a multicenter study, the clinical, biological, and electrophysiological characteristics of 148 patients with SNN were analyzed. Multiple correspondence analysis and logistic regression were used to identify patterns differentiating between forms of SNNs with different etiologies. Models were constructed using a study population of 88 patients and checked using a test population of 60 cases. Four patterns were identified. Pattern A, with an acute or subacute onset in the four limbs or arms, early pain, and frequently affecting males over 60 years of age, identified mainly paraneoplastic, toxic, and infectious SNN. Pattern B identified patients with progressive SNN and was divided into patterns C and D, the former corresponding to patients with inherited or slowly progressive idiopathic SNN with severe ataxia and electrophysiological abnormalities and the latter to patients with idiopathic, dysimmune, and sometimes paraneoplastic SNN with a more rapid course than in pattern C. The diagnostic strategy based on these patterns correctly identified 84/88 and 58/60 patients in the study and test populations, respectively.

Acquired sensory neuronopathies encompass a group of paraneoplastic, dysimmune, toxic or idiopathic disorders characterized by degeneration of peripheral sensory neurons in dorsal root ganglia. As dorsal root ganglia cannot easily be explored, the clinical diagnosis of these disorders may be difficult. The question as to whether there exists a common clinical pattern of sensory neuronopathies, allowing the establishment of validated and easy-to-use diagnostic criteria, has not yet been addressed. In this study, logistic regression was used to construct diagnostic criteria on a retrospective study population of 78 patients with sensory neuronopathies and 56 with other sensory neuropathies. For this, sensory neuronopathy was provisionally considered as unambiguous in 44 patients with paraneoplastic disorder or cisplatin treatment and likely in 34 with a dysimmune or idiopathic setting who may theoretically have another form of neuropathy. To test the homogeneity of the sensory neuronopathy population, likely candidates were compared with unambiguous cases and then the whole population was compared with the other sensory neuropathies population. Criteria accuracy was checked on 37 prospective patients referred for diagnosis of sensory neuropathy. In the study population, sensory neuronopathy showed a common clinical and electrophysiological pattern that was independent of the underlying cause, including unusual forms with only patchy sensory loss, mild electrical motor nerve abnormalities and predominant small fibre or isolated lower limb involvement. Logistic regression allowed the construction of a set of criteria that gave fair results with the following combination: ataxia in the lower or upper limbs + asymmetrical distribution + sensory loss not restricted to the lower limbs + at least one sensory action potential absent or three sensory action potentials

La myopathie due à des mutations du gène PNPLA2 est une entité rare entraînant une accumulation de gouttelettes lipidiques dans différents tissus dont le muscle et les leucocytes. Ce gène code l’ATGL (adipose triacylglycerol lipase), une enzyme qui catalyse l’hydrolyse des triglycérides. Nous rapportons ici le cas d’un patient de 54 ans présentant une myopathie distale et une cardiomyopathie. La biopsie musculaire met en évidence une accumulation de gouttelettes lipidiques dans les myocytes. Malgré l’absence de corps de Jordan dans les leucocytes, le diagnostic de myopathie par mutation du gène PNPLA2 est quand même envisagé, diagnostic que la biologie moléculaire confirmera avec l’identification d’une nouvelle mutation (c.798_799insC ; p.Ala267Argfsx40) dans l’exon 7 du gène PNPLA2.

Phenylketonuria (PKU) is an inherited autosomal recessive disorder characterized by hyperphenyalaninemia resulting from deficiency of hepatic phenylalanine hydroxylase (PAH), which converts phenylalanine into tyrosine. More than 500 mutations have been reported in the PAH gene, which is located on p12q24.1 [1]. We here report a case of PKU revealed by tetraparesis, cognitive impairment, and an unusual body odour in an adult.

Resume Introduction La maladie cœliaque peut se compliquer d’un lymphome T associe a une enteropathie du grele (LTAE), mais la dissemination lymphomateuse extra-intestinale est peu frequente et l’atteinte du systeme nerveux peripherique rare. Observation Nous rapportons l’observation d’une patiente de 54 ans, atteinte d’une maladie cœliaque, qui presenta une polyradiculopathie subaigue qui fit decouvrir un LTAE. Discussion Les neuropathies peripheriques associees a la maladie cœliaque sont habituellement des neuropathies sensitivomotrices axonales et non des polyradiculopathies. Les localisations neurologiques peripheriques des lymphomes malins non hodgkiniens sont plus frequentes en cas de lymphome B et les presentations neurologiques des LTAE sont tres rares. Conclusion Cette observation souligne l’interet de rechercher un LTAE devant une polyradiculopathie associee a une maladie cœliaque.

We report the case of a 75-year-old female who had a trismus as the first, long-lasting and, isolated symptom of ALS. We discuss also therapeutic possibilities.

Since the declaration of the novel influenza A (H1N1) pandemic by the World Health Organization in June 2009, several neurologic complications have been reported including encephalitis, encephalopathy, seizures, and neuropsychiatric perturbations [1, 2]. Most of the cases concerned children [1] and had a benign course with early and appropriate management. When performed, brain magnetic resonance imaging (MRI) was normal. We report the first case of H1N1 virus related to acute hemorrhagic leukoencephalopathy. A 56-year-old Caucasian woman without past medical history consulted her general practitioner 24 h after the onset of an influenza syndrome. She received imipenem per os 2 g per day for 10 days. On the fifth day, the patient was referred for permanent dyspnea, headache, and 38.5 C fever. No cognitive changes were observed. Pulmonary auscultation found crackles. A chest X-ray showed features of acute respiratory distress syndrome with bilateral infiltrative opacities. At admission, H1N1 was isolated from nasopharyngeal specimens by reverse-transcription polymerase chain reaction (RT-PCR) [3]. The virus could not be isolated by cell culture for sequencing. One hundred fifty milligrams oseltamivir and 40 mg methylprednisolone intravenous per day were administered over 5 days while imipenem was continued. On the sixth day, massive oxygen desaturation occurred despite noninvasive oxygenotherapy. The patient became comatose. She was transferred to the intensive care unit. Mechanical ventilation was then performed after intubation. Brain MRI with T2-, T2*-, and T1-weighted sequences with and without gadolinium infusion showed extensive bilateral hemispheric leukoencephalopathy predominating in the subcortical regions and extending in the right striatum. Several microbleeds were present in the same territories (Fig. 1a–g). MRI angiography was normal. Electroencephalography recorded bilateral slow waves. Cerebrospinal fluid (CSF) was xanthochromic and contained 0.51 g/L protein in a polyclonal pattern with 90 red blood cells and 8 lymphocytes/ mm. PCR was negative for cytomegalovirus, herpes simplex, Epstein–Barr, and H1N1 viruses. Specific antiH1N1 antibody titer determined by hemagglutination inhibition against the A/California/7/2009 strain was 10 in CSF and more than 1,280 in serum. Culture for bacteria and mycosis remained sterile. Neither antinuclear nor onconeural antibodies were noted. On the tenth day, the patient awoke but was deeply confused. The Mini-Mental State Examination (MMSE) score was 19/30 with deficit in time and space orientation and calculation errors. Neurological examination found a left pyramidal syndrome with 4/5 Medical Research Council score on limb muscle testing. Diagnosis of acute partially hemorrhagic leukoencephalopathy linked to the H1N1 virus was reached, and steroid therapy started with methylprednisolone 500 mg daily for 3 days. On the 40th day, muscle strength was normal. The MMSE was 29/30. An extensive neuropsychological expertise showed minor abnormalities with normal memory, verbal comprehension, and executive F. A. Cisse J.-C. Antoine G. Jousserand J.-P. Camdessanche (&) Department of Neurology, University Hospital, 42055 Saint-Etienne Cedex 02, France e-mail: j.philippe.camdessanche@chu-st-etienne.fr

Introduction La biopsie cutanee (BC) et les potentiels evoques laser (PEL) sont les deux examens de reference pour le diagnostic de neuropathie des petites fibres (NPF). Pourtant, ils n’ont jamais ete compares. Objectif Comparer les resultats de la BC et des PEL chez des patients presentant une neuropathie sensitive cliniquement pure avec une atteinte des petites fibres pure ou non. Materiel et methodes Nous avons realise une etude prospective monocentrique chez 50 patients. Douze avaient une NPF pure longueur-dependante (LD), 15 une neuronopathie (NNS) petites fibres pure, 12 une neuropathie sensitive distale mixte et 11 une NNS mixte. Les patients ont tous beneficie d’une BC proximale et distale sur un membre inferieur avec determination de la densite en fibres nerveuses intra-epidermiques, et d’un enregistrement du potentiel N2P2 en PEL (YAP ou CO2) sur 8 territoires. Resultats La BC et les PEL ont detecte une atteinte des petites fibres avec une sensibilite de 82 et 84 % respectivement. Cette difference n’est pas statistiquement significative. La concordance entre les deux techniques etait de 74%. Elle etait de 67 % et 82,6 % pour les NPF pures et les neuropathies mixtes respectivement. Les deux techniques ne sont pas performantes pour determiner le caractere LD ou non de la neuropathie avec une sensibilite respective de 46,7 % et 51 %. Discussion Notre etude confirme la bonne sensibilite de la BC et des PEL pour faire le diagnostic de NPF sans superiorite globale d’une technique. Elle montre une concordance correcte des deux explorations et leur faible performance pour determiner le caractere LD ou non de la neuropathie principalement en lien avec la frequence des atteintes proximales infracliniques. Conclusion La BC et les PEL sont deux techniques sensibles et concordantes pour l’etude des petites fibres nerveuses dans le cadre des neuropathies sensitives pures.

Introduction Il n’existe pas de criteres precis et valides pour le diagnostic de neuronopathie sensitive (NNS). Celui-ci est generalement retenu devant une neuropathie sensitive pure non longueur-dependante avec atteinte axonale severe. Objectifs Le but de notre etude est de tester la sensibilite des criteres usuels de NNS a propos de 76 patients vus dans le Centre de Reference Neuromusculaire Rhone-Alpes. Methodes Cinq cent quatre-vingt-seize cas de neuropathies sensitives investigues entre 1987 et 2006 furent revus et 76 cas de NNS furent retenus et groupes en paraneoplasiques (33 patients), secondaires a l’utilisation de sels de platine (11 patients) ou idiopathiques/dysimmunes (32 patients). Pour chaque patient, la nature, le mode d’installation et la topographie des signes cliniques ainsi que l’ENMG furent analyses. Les statistiques furent realisees par les tests du chi2, de Mann Whitney et regression logistique. Resultats A la phase d’etat, les trois groupes constituaient un ensemble homogene de patients. La sensibilite individuelle des criteres diagnostiques testes etait la suivante : neuropathie sensitive pure 100 p. 100, atteinte non-longueur dependante cliniquement 89,5 p. 100 ou cliniquement et electrophysiologiquement 97,3 p. 100, au moins 75 p. 100 des nerfs sensitifs testes aux membres superieurs atteints 94,7 p. 100 et au moins 75 p. 100 des nerfs moteurs testes aux membres superieurs normaux 86,6 p. 100. La sensibilite des criteres combines etait de 85 p. 100. Discussion La sensibilite des criteres usuels de NNS est individuellement bonne, mais leur combinaison l’est moins. Les patients exclus par ces criteres appartiennent a chacun des trois groupes etiologiques et aucun des criteres n’est plus particulierement responsable de l’exclusion des patients. La specificite de ces criteres necessite aussi d’etre testee. Conclusion Notre travail est un premier pas dans la recherche de criteres diagnostiques de NNS. Il confirme la necessite de criteres valides, sensibles et specifiques.

Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years. Symptoms started in the left hand and slowly involved the four limbs. Investigations were consistent with a mixed sensory and motor neuronopathy. A heterozygous change from an alanine to a proline at amino acid 382 was identified in exon 6 of the TARDPB gene (p.A382P). This case expands the phenotypic spectrum associated with mutations in the TARDBP gene and shows that sensory neurons can be severely damaged early in the course of the disease, following a propagating process, with an orderly progression from a focal starting point. A combination of severe sensory and motor neuronopathy is rarely encountered in clinical practice. The possibility of an A382P TDP-43 mutation should be considered in patients with such an association.