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C Tranchant

Publications and source records attributed to C Tranchant.

At least 19 recordsLinked to original sources
PubMed2006

[Pure trigeminal motor neuropathy presenting with temporo-mandibular joint dysfunction in a patient with HIV and HCV infections].

Pure trigeminal motor neuropathy (PTMN) is a rarely described condition. We report the case of a 41-year-old woman infected with the human immunodeficiency virus (HIV1) and hepatitis C virus who presented with weakness of left temporalis and masseter muscles and painful left temporomandibular joint dysfunction (TMD) a few months after cerebral toxoplasmosis revealing acquired immunodeficiency syndrome (AIDS). Magnetic resonance imaging revealed severe wasting and fat replacement of the left temporalis, pterygoid and masseter muscles and showed neither abnormalities in the left motor nucleus of the trigeminal nerve nor compression of the left trigeminal nerve. Electromyographic examination gave evidence of denervation in the left temporalis, masseter and pterygoid muscles and blink reflex studies were normal, confirming the diagnosis of PTMN which was probably secondary to HIV and HCV co-infection.

Acquired Immunodeficiency Syndrome↗
PubMed2006

[Ataxia associated with gluten sensitivity, myth or reality?].

INTRODUCTION: Gluten ataxia refers to the association of idiopathic ataxia despite exhaustive investigations with gluten sensitivity defined by anti-gliadin antibodies (AGA) presence in blood. This is a controversial concept. PATIENTS AND METHODS: We screened 33 patients, who were hospitalized in 2003 and had subacute or chronic ataxia for presence of circulating AGA. Twelve patients were positive and their clinical and biological features were studied. RESULTS: Among the twelve patients, we concluded that gluten ataxia was present in only eight, including one case of celiac disease. Among these eight patients, five had the usual features of gluten ataxia (progressive cerebellar ataxia affecting mainly lower limbs), but one patient presented unusual left cerebellar hemisyndrome and the two others displayed polyneuropathy with proprioceptive ataxia. Cerebellar atrophy was confirmed with magnetic resonance imaging in five cases and association with other antibodies was found in six cases. Among the four other patients positive for AGA, investigations revealed one case of multiple sclerosis, one case of late-onset Friedreich ataxia, one case of basilar tuberculous meningitis and one case of type 2 diabetes. CONCLUSION: Screening for AGA presence should be systematically performed at presentation of patients with unknown etiology ataxia; in the event AGA are present without any other etiology, treatment with gluten-free diet must be discussed. However, the responsibility of AGA in the pathogenesis of neurological signs is highly debatable and further experimental work is required. Two pathophysiological hypotheses are suggested: (1) overexpression of cerebellar epitopes, in case of primary cerebellar pathology, leading to excessive immune response directed against these epitopes; and (2) molecular mimicry with cross-reactivity of antigens usually directed against gliadin, but also recognizing Purkinje cells epitopes.

Adult↗
PubMed2006

[Subthalamic stimulation in a patient with multiple system atrophy: a clinicopathological report].

INTRODUCTION: Efficacy of high frequency subthalamic nucleus (STN) stimulation has been demonstrated in idiopathic Parkinson's disease (IPD). However, since it may be difficult to differentiate IPD from multiple system atrophy with parkinsonian presentation (MSA-P), a few cases of MSA-P has been treated by deep brain stimulation (DBS) and showed no sustained improvement of clinical signs. We report a patient with a clinical misdiagnosed MSA-P, later confirmed by neuropathological study, who was improved by DBS for one year. CASE REPORT: A 63-year-old parkinsonian patient had been treated by levodopa for 6 years with a persistent good response. Over one year he progressively developed disabling fluctuations with severe axial syndrome and vegetative non motor symptoms in off periods. After checking usual contraindications, he was included in surgical procedure protocol (bilateral STN stimulation). During the first year after surgery, the clinical status improved with disappearance of non motor fluctuations, a 45 percent decrease of the OFF UPDRS III score, and a 39 percent reduction of the treatment. However after one year, axial symptoms reappeared with recurrent falls, as well as increasing dysarthry and swallowing difficulties which were only slightly improved by levodopa. He developed severe urinary disorders increased by a prostatic adenoma which led to surgical treatment. During the post operative period, 2 years after DBS, he died suddenly from an unexplained cause. A cerebral autopsy was performed and showed a good position of the two electrodes in the STN. Microscopic studies revealed severe neuronal depletion in the substantia nigra but no Lewy bodies. Immunohistochemical methods demonstrated numerous argyrophilic glial cytoplasmic inclusions positive for alpha-synuclein and ubiquitin in the STN, putamen, globus pallidus, pontine nuclei and cerebellar white matter, significant of MSA. CONCLUSION: This case shows that DBS can improve parkinsonian signs in MSA-P with persistent dopa sensitivity. However, probably because of striatal degeneration progression, this improvement is time limited and STN DBS cannot be recommended in MSA.

Adenoma↗
PubMed2006

[What is the role of other complementary examination in amyotrophic lateral sclerosis?].

Amotrophic lateral sclerosis diagnosis is based on clinical and electrophysiological findings. Transcranial magnetic stimulation and MRI can show abnormalities which are not specific, but which can confirm upper motor neuron involvement. The other tests are performed to exclude differential diagnosis. Tests which should be performed in every cases are: medullar MRI, blood counts, erythrocyte sedimentation, serum protein electrophoresis, calcium, phosphore, serological tests for HIV, siphylis, Lyme disease. Other tests are made in some clinical circonstances to exclude genetical disease or metabolic disorders (SMN gene, Kennedy gene, Hexosaminidase A, very long chaine fatty acids), haematological or paraneoplasic disorders (anti-neurons antibodies, PSA, CT of chest and abdomen, mammography, bone marrow biopsy) or inclusion myositis (muscle biopsy).

Amyotrophic Lateral Sclerosis↗
PubMed2005

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

BACKGROUND: Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. METHODS: We have screened for SGCE mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and benign hereditary chorea. All coding exons of the SGCE gene were analysed. The DYT1 mutation was also tested. RESULTS: Sixteen index cases had SGCE mutations while one case with primary myoclonic dystonia carried the DYT1 mutation. Thirteen different mutations were found: three nonsense mutations, three missense mutations, three splice site mutations, three deletions, and one insertion. Eleven of the SGCE index cases had M-D and five E-M. No SGCE mutations were detected in patients with other phenotypes. The total number of mutation carriers in the families was 38, six of whom were asymptomatic. Penetrance was complete in paternal transmissions and null in maternal transmissions. MDS patients with SGCE mutation had a significantly earlier onset than the non-carriers. None of the patients had severe psychiatric disorders. CONCLUSION: This large cohort of index patients shows that SGCE mutations are primarily found in patients with M-D and to a lesser extent E-M, but are present in only 30% of these patients combined (M-D and E-M).

Adolescent↗
PubMed2005

A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset (mean age at onset 13 years [8 to 15 years]), and rapid progression leading to compromised ambulation in the mid-20s.

Adolescent↗
PubMed2005

[A clinical, neurophysiological and molecular study of 12 patients from 4 families with spinal and bulbar muscular atrophy].

INTRODUCTION: Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuro-endocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Material and method. We report the detailed phenotypic study in a series of 12 SBMA patients evaluated in four kindreds. RESULTS: Clinical phenotypic spectrum varied considerably, ranging from childhood-onset weakness and atrophy mimicking limb-girdle myopathy in patients with 53 CAG repeats to isolated hyperCKemia in an adult with 42 CAG repeats. All male patients had gynecomastia. Two female carriers presented with paresthesias and hand action tremor. Homozygous deletions of SMN1 and SMN2 genes were not found in any patients. CONCLUSION: This report demonstrates that SBMA may present with a wider clinical spectrum than previously described and suggests that clinical phenotype severity in SBMA is partially linked to the number of CAG repeats. It also suggests that SMN1 and SMN2 genes do not act as modifying genes in SBMA.

Adolescent↗
PubMed2005

[Vogt-Koyanagi-Harada syndrome].

INTRODUCTION: Vogt-Koyanagi-Harada syndrome is a rare, inflammatory disease with manifestations affecting the ocular, central nervous, audito-vestibular, and integumentary systems. Vogt-Koyanagi-Harada syndrome is more frequent in Asia but is also described in Europe. We report three new non asiatic cases of this syndrome. OBSERVATIONS: The three patients had bilateral panuveitis and hypoacusia. Two of them had peripheral facial palsy, two of them had vestibular syndrome and one of them lymphocytic meningitis. In each case we found characteristic HLA II typing and in one case we discovered the simultaneous presence of three auto-antibodies: anti-retina (anti-Arrestin type), anti-choroid and anti-cochlea. These patients were treated by corticosteroids but required an additional treatment by cyclophosphamide (0.8g/m2). The clinical course was favorable with visual sequelae for two and auditory one for one. DISCUSSION: These biological and therapeutic elements and a review of the recent literature are in favor of an autoimmune origin of this syndrome.

Adult↗
PubMed2005

[Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients with solid organ transplantation: a clinical, neurophysiological and neuropathological study of 4 cases].

INTRODUCTION: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) rarely develops in patients with solid organ transplantation. PATIENTS AND METHOD: We describe the clinical, biological, electrophysiological and neuropathological features of 4 patients with solid organ transplantation who developed CIDP. Two patients had liver transplantation, one had kidney transplantation and one had lung transplantation. RESULTS: All 4 patients developed in the months following transplantation a syndrome that fulfilled criteria for definite CIDP. All patients had immunosuppressive therapy, with ciclosporin + prednisolone in 2 cases, tacrolimus in 1 case and azathioprine + prednisolone + ciclosporin in one case. One patient had chronic HCV and HBV infection. Treatment with intravenous immune globulin (IVIG) and/or a change in immunosuppressive therapy improved the neuropathy in all cases. CONCLUSION: CIDP is a rare and potentially treatable condition that should be considered in all patients with solid organ transplantation who develop a rapidly disabling sensorimotor polyneuropathy.

Humans↗
PubMed2004

[Acute relapse in Charcot-Marie-Tooth 1B neuropathy: can protein P0 behave like an autoantigen?].

INTRODUCTION: The natural history of Charcot-Marie-Tooth neuropathy is marked by accentuated motor and sensitive deficits suggestive of acute polyradiculoneuritis or, more generally, chronic inflammatory demyelinizing polyneuropathy. OBSERVATION: A 41-year-old woman, with Charcot-Marie-Tooth (CMT) 1B neuropathy associated with a P0 gene mutation, developed several episodes of ataxia which resolved after intravenous administration of IgG or corticosteroids. CONCLUSION: The sudden increase of a motor or sensitive deficit in this patient with CMT type I led to two hypotheses: chance association between an inherited and an inflammatory neuropathy, or a dysimmune inflammatory reaction, the mutated protein acting like an autoantigen. These two hypotheses are discussed.

Acute Disease↗
PubMed2004

[Hereditary neuropathy with liability to pressure palsy presenting with an acute inflammatory demyelinating polyneuropathy].

INTRODUCTION: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. It is usually caused by a 1.5 Mb deletion of the PMP22 gene (17p11.2). CASE REPORT: We describe the case of a 31 year-old woman who presented with acute demyelinative peripheral polyneuropathy affecting the four limbs and elevated cerebrospinal fluid protein content a few days after a viral illness. Acute inflammatory demyelinating polyneuropathy (AIDP, Guillain-Barré syndrome) was suspected. However, electrophysiologic examination suggested HNPP and subsequent genetic testing was confirmatory. CONCLUSION: This case demonstrates that HNPP can present in an acute manner, mimicking AIDP.

Acute Disease↗
PubMed2004

Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis.

The muscle acetylcholine receptor (AChR) is the main target self-antigen in acquired autoimmune myasthenia gravis (MG). Here, we investigated an association of MG with the CHRND gene encoding the delta-subunit of the AChR. Using a microsatellite repeat located in the second intron of the gene, we observed a preferential transmission of the allele 268 in 114 one-generation families with one myasthenic child (Pc=0.0154). This allele was also over-represented in a group of 350 unrelated nonthymoma MG patients (OR=1.78, P=0.038), but not in 84 thymoma patients, compared to 168 healthy controls. Moreover, among nonthymoma patients, those lacking serum anti-titin antibodies appeared to be best associated (OR=2.07, P=0.017). In contrast, there was no distortion in the transmission of a single-nucleotide substitution polymorphisms (SNPs) in the 3' untranslated region of CHRND nor in that of two SNPs located in the closely linked CHRNG gene, 4.5 kb telomeric to CHRND. The data warrant a detailed investigation of CHRND polymorphism in MG patients.

Child, Preschool↗