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T Maisonobe

Publications and source records attributed to T Maisonobe.

At least 37 records · Page 2Linked to original sources
PubMed2002

[Vasculitis confined to the peripheral nervous system: atypical clinical presentation].

INTRODUCTION: Peripheral neuropathy is a common feature of many vasculitic syndromes. In some patients, the neuropathy may be the sole manifestation of vasculitis. EXEGESIS: A 74-year-old lady complained of pain and weakness of the lower limbs. In her history, we noted right optic neuritis, monoclonal gammopathy and dyslipidemia treated by fenofibrate. Clinical examination showed proximal muscle strength deficit of lower limbs, with quadriceps femoral muscles atrophy. Muscle stretch reflexes were absent. There was no deficit in light touch and pain sensation, but proprioception was impaired. There was electromyographic evidence of myopathic impairment with abnormal spontaneous activity. Amplitude of the sensory action potentials was mildly reduced. Laboratory tests were normal. Fenofibrate was stopped, but the clinical symptoms increased. Four months later, another electrophysiological study showed a very reduced amplitude of sensory action potentials. Myopathic impairment was less severe. Nerve biopsy showed inflammation and necrosis of nerve arteries, which lead to the diagnosis of necrotizing vasculitis. A corticosteroid treatment was done. Six months later, clinical and electrophysiological improvement clearly appeared. CONCLUSION: Histological lesions of vasculitis confined to the peripheral nervous system are those of classic polyarteritis nodosas. There is no systemic involvement nor biological abnormalities, which strengthens the role of nerve and muscle biopsy. The prognosis is good after corticosteroid treatment, which is not the case with systemic vasculitis.

Action Potentials↗
PubMed2002

Increased soluble p55 and p75 tumour necrosis factor-alpha receptors in patients with hepatitis C-associated mixed cryoglobulinaemia.

To investigate whether tumour necrosis factor alpha (TNFalpha) plays a role in the pathogenesis of hepatitis C virus-associated mixed cryoglobulinaemia (HCV-MC), we measured soluble TNFalpha and its soluble p55 (sTNFR1) and p75 (sTNFR2) receptors in the serum of patients with HCV-MC. TNFalpha, sTNFR1 and sTNFR2 were measured in the serum of 32 patients with HCV-MC, 18 patients with hepatitis C without MC (HCV) and 18 healthy volunteers, using specific immunoassays. Correlations between clinical and biological parameters and the concentrations of TNFalpha and sTNFRs were established by studying detailed clinical records of the 32 HCV-MC patients. Although higher, TNFalpha levels were not significantly different in HCV-MC patients compared with healthy or HCV controls. sTNFR1 and sTNFR2, however, were significantly higher in HCV-MC compared with controls or with HCV patients, and higher concentrations of sTNFR1 and sTNFR2 were observed in patients with severe visceral vasculitis, compared with patients with limited purpura. sTNFR1 concentrations positively correlated with fibrinogen levels but TNFalpha, sTNFR1 and sTNFR2 did not correlate with other biological parameters such as rheumatoid factor concentrations, CH50 or C4 values. These data suggest a role for TNFalpha in the pathogenesis of the immune complex-mediated vasculitis associated with HCV-MC.

Aged↗
PubMed2002

[Neurological manifestations in cryoglobulinemia].

Cryoglobulins are immunoglobulins that persist in the serum, precipitate at cold temperature and resolubilize when rewarmed. Type I is often associated with hematological disorders. Type II and III are mixed cryoglobulins, composed of different immunoglobulins with a monoclonal component in type II and only polyclonal immunoglobulins in type III. Mixed cryoglobulins are associated with connective tissues or infectious diseases. Hepatitis C virus is involved in most of previously called "essential" mixed cryoglobulinemia. Dermatological, rhumatological, and nephrological manifestations are the most frequent, and neurological complications are found in 20 percent of cases. However, in mixed cryoglobulinemia with low cryoglobulins level, neurological signs may reveal the disease. Ischemic central nervous system complications are rare, but sensory, axonal, peripheral neuropathies or sensory and motor multiple mononeuropathies are more frequent. Prognostic and treatment depend on association with hepatitis C, and presence of vasculitis lesions in the nerve biopsy.

Central Nervous System Diseases↗
PubMed2001

Severe perturbations of the blood T cell repertoire in polymyositis, but not dermatomyositis patients.

Polymyositis and dermatomyositis are diseases characterized by muscle weakness and muscle inflammatory infiltrates. Their pathogenesis remains unclear. A central role for endomysial autoaggressive CD8(+) T cells is suspected in polymyositis and for perivascular B cells in dermatomyositis. We compared the T cell repertoire of 10 polymyositis and 10 dermatomyositis patients by immunoscope, a method providing a global assessment of the T cell repertoire and a sensitive detection of clonal T cell expansions. Samples were analyzed qualitatively and quantitatively in the blood (unsorted cells and CD4(+) and CD8(+) cells) and in muscle infiltrates. Dramatic perturbations of the T cell repertoire were observed in the blood of polymyositis but not dermatomyositis patients (p < 0.0005), the latter being undistinguishable from controls. These perturbations were due to oligoclonal expansions of CD8(+) T cells and most blood clonal expansions were also found in muscle. These results indicate that the pathogenesis of polymyositis and dermatomyositis is different and reinforce the view that polymyositis but not dermatomyositis is an autoimmune CD8(+) T cell-mediated disease. Moreover, this method may be helpful for the differential diagnosis of polymyositis and dermatomyositis and for noninvasive follow-up of polymyositis patients.

Adult↗
PubMed2001

Primary lateral sclerosis: further clarification.

Primary lateral sclerosis (PLS) has been defined as a rare. Non-hereditary disease characterized by progressive spinobulbar spasticity, related to the exclusive involvement of precentral pyramidal neurons, with secondary pyramidal tract degeneration and a preservation of anterior horn motor neurons, the latter allowing PLS to be distinguish from amyotrophic lateral sclerosis (ALS). However, a clear distinction between the two diseases remains a subject of debate. With this in mind, we assessed patients with meeting the previously published criteria for PLS in a prospective, longitudinal study. At regular intervals, we analyzed various clinical and electrophysiological parameters in nine patients with a diagnosis of PLS. We made a deltoid muscle biopsy and PET study.Our results provide evidence that degeneration in PLS is not restricted to the upper motor neurons but also affects the lower motor neurons. The distinction between ALS and PLS is related to the degree and stability of lower motor neuron involvement. In view of the similarities with ALS, we consider that PLS may represent a slowly progressive syndrome closely related to this disease.

Adult↗
PubMed2001

Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.

The authors studied a 47-year-old patient who presented with an association of deafness, acute cerebral stroke-like episode, leukoencephalopathy, and extensive basal ganglia calcifications. Late onset and neuroradiologic findings were atypical for MELAS syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes). A heteroplasmic G to A transition at nucleotide 4332 in the tRNA glutamine gene was identified in the patient's muscle mitochondrial DNA. The pathogenicity of the mutation was shown in single muscle fibers by the correlation between high mutation load and cytochrome c oxidase defect.

DNA, Mitochondrial↗
PubMed2001

[Peripheral neuropathy and hepatitis C virus infection: more than cryoglobulinemia].

PURPOSE: To study characteristics of peripheral neuropathies associated with hepatitis C virus infection. METHODS: A study of two groups of four patients with peripheral neuropathy and infected with hepatitis C virus, and a literature review. RESULTS: We observed four cases of peripheral neuropathy in patients with hepatitis C virus infection with persistent negativity of mixed cryoglobulinemia, and with no purpura, rheumatoid factor, or low C4 level. Neuropathy improved with treatment in three patients between 8 and 28 months after treatment was begun. We report four other observations of peripheral neuropathy with mixed cryoglobulinemia. Worsening of peripheral neuropathy was observed 2 to 13 weeks after initiation of interferon alpha despite improvement of hepatic parameters. After stopping interferon, peripheral neuropathy worsened (one case), stabilized (one case), or improved (two cases). DISCUSSION: In patients infected with hepatitis C virus, peripheral neuropathy can be due to mixed cryoglobulinemia, periarteritis nodosa, and perhaps hepatitis C virus itself as suggested by our first observations. Low doses of interferon alpha may worsen peripheral neuropathy in patients with mixed cryoglobulinemia, as suggested in our later observations.

Adult↗
PubMed2001

[Juvenile dermatomyositis and panniculitis-type subcutaneous T-cell lymphoma. A case report].

INTRODUCTION: Juvenile dermatomyositis does not have, unlike the adult form, a paraneoplastic character. EXEGESIS: We report the case of a 12-year-old girl who has a typical dermatomyositis complicated by the appearance of very aggressive lesions of lobular panniculitis predominating in the lower limbs. Their refractory character to different treatments (in particular corticosteroids, chloroquine, dapsone, methotrexate, azathioprine, intravenous immunoglobulins and ciclosporin A) will finally lead to the diagnosis of subcutaneous T-cell lymphoma. This will be complicated by a macrophagic activation syndrome leading to death despite chemotherapy. CONCLUSIONS: The occurrence of panniculitis during a dermatomyositis should lead to the search for a subcutaneous T-cell lymphoma, especially if the lesions are locally aggressive and refractory to usual treatments, which permits an early chemotherapy.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2001

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.

The 17p11.2 duplication and Connexin 32 (Cx32) mutations are the most frequent gene mutations responsible for Charcot-Marie-Tooth diseases. We classified 282 Charcot-Marie-Tooth families according to the median motor nerve conduction velocity of the index patient and the mode of inheritance, and screened them for 17p11.2 duplication and Cx32 mutations. Forty-seven percent of the Charcot-Marie-Tooth families had median motor nerve conduction velocity under 30 m/s (group 1), 15% between 30 and 40 m/s (group 2), and 28% over 40 m/s (group 3). Spinal Charcot-Marie-Tooth (group 4) was observed in 7% of the families. Modes of inheritance were not similarly represented among the different groups. The 17p11.2 duplication was detected in index patients of group 1 only, and accounted for 83% of the familial cases and 36% of the isolated cases. In contrast, 21 Cx32 mutations were detected to variable degrees in groups 1-3, but were most numerous by far in dominant families of group 2 (44%). This systematic approach was taken to estimate the frequency of 17p11.2 duplication and Cx32 mutations in the different Charcot-Marie-Tooth subgroups, in order to propose a practical strategy for molecular analysis.

Adult↗
PubMed2001

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

X-linked dominant Charcot-Marie-Tooth (CMTX) disease is a motor and sensory neuropathy caused by mutations in the connexin 32 (CX32) gene. In this study we report the clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with CMTX. Age at onset was 15.4 +/- 9.6 years in males (range 1-40 years) and 18.7 +/- 13.1 years in females (range 1-56 years) (P = 0.22) and the duration of disease at the time of examination was 18.3 +/- 14.6 years in males and 23.9 +/- 13.7 years in females (P = 0.11). Males were more severely affected than females, with significantly more frequent muscle weakness, amyotrophy, proprioception loss, upper limb areflexia and pes cavus. Females were more frequently asymptomatic, whereas high functional disability scores were more frequently encountered in males. The electrophysiological studies showed that motor nerve conduction velocities in CMTX females, but not males, were heterogeneous between nerves compared with Charcot-Marie-Tooth type 1A (CMT1A) patients and controls. The terminal latency index (TLI) for the median nerve was 0.37 +/- 0.08; it was similar in men and in women and a little higher than those observed in CMT1A and controls. The range of values for median TLI was wider in both male and female CMTX patients than in controls, but was similar to that of CMT1A patients, suggesting that motor conduction was relatively homogeneous within a given nerve. Twenty-seven different CX32 mutations, including missense (n = 23), nonsense (n = 2) and frameshift mutations (n = 1) and one entire deletion of the CX32 coding sequence, were observed in the 37 families. Four of these mutations are described for the first time. The phenotype of the patients, especially age at onset, is discussed in relation to the functional consequences of CX32 mutations, analysed in vitro in Xenopus oocytes and mammalian cells. CMTX patients with age at onset in the first decade mostly presented non-functional mutations, suggesting that the physiological consequences of the mutations affect age at onset in CMTX.

Adolescent↗
PubMed2001

Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature.

The question of whether primary lateral sclerosis (PLS) is a nosological entity distinct from amyotrophic lateral sclerosis (ALS) has been the subject of controversy since it was first described in the nineteenth century. PLS has been defined as a rare, non-hereditary disease characterized by progressive spinobulbar spasticity, related to the selective loss of precentral pyramidal neurones, with secondary pyramidal tract degeneration and preservation of anterior horn motor neurones. In the recent clinical literature, the frontier between ALS and neurodegenerative disease remains poorly defined. We studied 20 patients with a diagnosis of PLS. We carried out a variety of tests in order to determine the presence of a more diffuse neurodegenerative process. We also performed a longitudinal electrophysiological evaluation. Our clinical, electrophysiological and pathological investigations provide evidence that the disease has a heterogeneous clinical presentation and that degeneration is not restricted to the central motor system.

Adult↗
PubMed2001

Central nervous system disease in patients with macrophagic myofasciitis.

Macrophagic myofasciitis (MMF), a condition newly recognized in France, is manifested by diffuse myalgias and characterized by highly specific myopathological alterations which have recently been shown to represent an unusually persistent local reaction to intramuscular injections of aluminium-containing vaccines. Among 92 MMF patients recognized so far, eight of them, which included the seven patients reported here, had a symptomatic demyelinating CNS disorder. CNS manifestations included hemisensory or sensorimotor symptoms (four out of seven), bilateral pyramidal signs (six out of seven), cerebellar signs (four out of seven), visual loss (two out of seven), cognitive and behavioural disorders (one out of seven) and bladder dysfunction (one out of seven). Brain T(2)-weighted MRI showed single (two out of seven) or multiple (four out of seven) supratentorial white matter hyperintense signals and corpus callosum atrophy (one out of seven). Evoked potentials were abnormal in four out of six patients and CSF in four out of seven. According to Poser's criteria for multiple sclerosis, the diagnosis was clinically definite (five out of seven) or clinically probable multiple sclerosis (two out of seven). Six out of seven patients had diffuse myalgias. Deltoid muscle biopsy showed stereotypical accumulations of PAS (periodic acid-Schiff)-positive macrophages, sparse CD8+ T cells and minimal myofibre damage. Aluminium-containing vaccines had been administered 3-78 months (median = 33 months) before muscle biopsy (hepatitis B virus: four out of seven, tetanus toxoid: one out of seven, both hepatitis B virus and tetanus toxoid: two out of seven). The association between MMF and multiple sclerosis-like disorders may give new insights into the controversial issues surrounding vaccinations and demyelinating CNS disorders. Deltoid muscle biopsy searching for myopathological alterations of MMF should be performed in multiple sclerosis patients with diffuse myalgias.

Adult↗
PubMed2001

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Hypokalaemic periodic paralysis (hypoPP) is an autosomal dominant muscle disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels. Mutations in the gene encoding the skeletal muscle voltage-gated calcium channel alpha-1 subunit (CACNL1A3) account for the majority of cases. Recently, mutations in the gene coding for the skeletal muscle voltage-gated sodium channel alpha subunit (SCN4A) have been reported in a small number of hypoPP families. In order to determine the relative frequency of the CANCL1A3 and SCN4A mutations in a large population of hypoPP patients, and to specify the clinical and pathological features associated with each of them, we searched for mutations in 58 independent hypoPP index cases. We detected the causative mutation in 45 cases: 40 were linked to the CACNL1A3 gene and five to the SCN4A gene. One mutation has not been described before. Some remarkable clinical features were observed in a large hypoPP family carrying an SCN4A mutation: a complete penetrance in men and women, an early age at onset, postcritic myalgias and an increased number and severity of attacks induced by acetazolamide. A muscle biopsy, performed in two members of this family, revealed a peculiar myopathy characterized by tubular aggregates. In contrast, vacuoles were predominant in muscles from hypoPP patients carrying CACNL1A3 mutations. Our findings point to the usefulness of a molecular characterization of hypoPP patients in clinical practice. They also provide new clues for understanding the mechanisms behind functional and structural alterations of the skeletal muscle in hypoPP.

Adolescent↗
PubMed2001

Hepatitis C virus infection with peripheral neuropathy is not always associated with cryoglobulinaemia.

OBJECTIVES: To describe cases of peripheral neuropathy associated with chronic hepatitis C virus infection without mixed cryoglobulinaemia. METHODS: Four cases of peripheral neuropathy associated with chronic hepatitis C virus infection with persistent negativity of mixed cryoglobulinaemia were found. RESULTS: All patients had small increases of transaminase levels and a positive viraemia. Liver biopsy showed chronic active hepatitis in all but one case (Knodell 4-9, Metavir A0F0-A3F3). Neuromuscular biopsy showed axonal neuropathy associated with lymphoid infiltrates around small vessels in two cases. Rheumatoid factor was always negative and C4 complement level was always normal. In three patients, neuropathy improved with interferon alpha, interferon alpha + ursodesoxycholic acid, or steroids + plasma exchange. CONCLUSION: Peripheral neuropathy may be associated with hepatitis C virus infection without mixed cryoglobulinaemia.

Adult↗
PubMed2001

Systemic vasculitis in patients with hepatitis C.

OBJECTIVE: To analyze the main characteristics of patients infected with hepatitis C virus (HCV) presenting with different types of vasculitis syndrome. METHODS: We retrospectively compared 2 groups of patients with HCV presenting with systemic vasculitis: 10 with biopsy proven polyarteritis nodosa-type systemic vasculitis (PAN, Group 1) and 7 with mixed cryoglobulinemia syndrome (MC, Group 2). RESULTS: Patients of Group 1 presented with different features than Group 2: life threatening systemic vasculitis (10 vs 0; p < 0.01), severe multifocal sensorimotor mononeuropathies versus distal moderate sensory polyneuropathies, malignant hypertension (5 vs 0; p = 0.04), cerebral angiitis (2 vs 0), ischemic abdominal pain (2 vs 0), kidney and liver microaneurisms (2 vs 0), increased erythrocyte sedimentation rate and C-reactive protein (7 vs 0; p < 0.01), renal insufficiency (5 vs 0; p = 0.04), HCV genotype 1b (3 vs 6; p = 0.06), and lower activity of chronic hepatitis (p = 0.02). Neuromuscular biopsies showed lesions of vasculitis in all patients, but the type of vasculitis was different in Group 1 compared to Group 2: medium size artery involvement (7 vs 0; p < 0.01), necrotizing vasculitis (10 vs 0; p < 0.01), and mononuclear cell infiltrate in perivascular areas (0 vs 7; p < 0.01). Using prednisone, plasma exchanges, and interferon-alpha, complete recovery was obtained in all PAN-type patients except one. In Group 2 patients, interferon-alpha did not have any effect on the peripheral neuropathy. CONCLUSION: HCV infection may be associated with different types of systemic vasculitis, i.e., polyarteritis nodosa or mixed cryoglobulinemia. Because of differences in clinical and pathological features and therapeutic strategy, PAN-type vasculitis should be distinguished from MC-type vasculitis in HCV patients.

Adult↗
PubMed2001

[A case of mitochondrial cytopathy (MERFF) without ragged red fibers at the onset].

We report a case of a mitochondrial cytopathy (MERRF) with a late diagnosis because of the absence of Ragged-Red Fibers (RRF) in the first muscular biopsy performed in childhood. Eight years after the onset of the disease the familial history and the clinical manifestations were very suggestive of a mitochondrial cytopathy and a second biopsy was performed confirming the diagnosis of MERRF. The authors discuss several hypotheses to explain the negativity of the first muscular biopsy. The absence of ragged-red fibers does not exclude the diagnosis of a mitochondrial cytopathy and other investigations are justified such as the biochemical study of the respiratory chain and the molecular analysis of mitochondrial DNA.

Adult↗
PubMed2001

[Multiple mononeuropathy and inflammatory syndrome manifested in Lyme disease].

Meningo-radiculitis is the most common peripheral nerve system involvement of Lyme disease. We report the observation of a 73 year-old woman presenting a subacute multiple mononeuropathy and a severe inflammatory syndrome. Diagnosis of Lyme disease was confirmed by a lymphocytic meningitis with positive serologic results in the cerebrospinal fluid. Nerve biopsy showed inflammatory cells spreading along the endoneurium. This case report emphasizes that Lyme disease may present as a multiple mononeuropathy mimicking a vasculitic neuropathy.

Aged↗