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T Chkili

Publications and source records attributed to T Chkili.

At least 19 recordsLinked to original sources
PubMed2000

[Acute myelitis and Behcet's disease: three case reports].

INTRODUCTION: Neurological manifestations in Behçet's disease usually consist of meningoencephalitis and cerebral thrombophlebitis. Myelitis is rare, especially when it is the only neurological manifestation. EXEGESIS: The authors report three cases of acute myelitis complicating Behçet's disease demonstrated by magnetic resonance imaging. In two cases, Behçet's disease was revealed by myelitis. The three cases were transverse myelitis, two of which were juvenile Behçet's disease and two were meningomyelitis. CONCLUSION: Magnetic resonance imaging can help guide diagnosis of myelitis in Behçet's disease. It can also be useful to assess the results of the treatment. Clinical symptoms of Behçet's disease must be searched for in the case of myelitis, especially for patients from Mediterranean countries.

Acute Disease↗
PubMed2000

[Akinetic mutism and progressive supranuclear palsy-like syndrome after the shunt of an obstructive hydrocephalus. Successful treatment with bromocriptine: 2 cases].

Two cases of obstructive hydrocephalus who suffered multiple shunt failures and shunt revisions are presented. The patients developed after the neurochirurgical treatment a clinical syndrome of akinetic mutism followed by a Progressive Supranuclear Palsy-like (PSP) syndrome. The akinetic mutism and the PSP-like syndrome were remarkably improved with bromocriptine.

Adult↗
PubMed2000

[Relapsing polyneuropathy in the post-partum period].

A patient had five relapses of polyneuropathy: four developed during post-partum. The rapid onset of symptoms with subsequent complete recovery are in favor of a recurrent Guillain-Barré syndrome rather than a chronic relapsing inflammatory polyneuropathy.

Anti-Inflammatory Agents↗
PubMed2000

Atlantoaxial tuberculosis: three cases.

Tuberculosis of the craniocervical junction (CCJ) is exceedingly rare but carries a risk of compression of the medulla oblongata and upper spinal cord. Three cases among 63 patients with spinal tuberculosis are reported. Mean age was 51 years (range, 20-69) and mean time to diagnosis was 4.6 months (range, 1-8). Although atlantoaxial dislocation was a consistent feature, none of the patients had neurological deficits. Computed tomography of the CCJ disclosed a suggestive pattern combining osteolysis and an abscess anterior to the spine. The diagnosis was confirmed by microbiological studies in two cases and histology in one. The outcome was favorable after antituberculous therapy, immobilization of the neck, and surgical fusion. Although tuberculosis remains common in developing countries, involvement of the CCJ is rare. Tuberculosis of the CCJ carries a risk of instability and severe neuraxis compression. Consequently, early diagnosis and treatment are of the utmost importance.

Adult↗
PubMed1999

Vitamin E deficiency ataxia associated with adenoma.

Vitamin E is one of the most important lipid-soluble antioxidant nutrient. Severe vitamin E deficiency (VED) can have a profound effect on the central nervous system. VED causes ataxia and peripheral neuropathy that resembles Friedreich's ataxia. We report here a patient presenting this syndrome, but also a prolactin and FSH adenoma. Both the neurological syndromes and the adenoma regressed after treatment with alpha-tocopherol. Although, the presence of the prolactinoma in this patient may not be related to his vitamin E deficiency, alpha-tocopherol treatment seems to be beneficial and might usefully be tested in patients with hypophyseal secreting other forms of adenoma.

Adenoma↗
PubMed1999

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders that affect the peripheral nervous system. Three loci are known for the autosomal dominant forms of axonal CMT (CMT2), but none have yet been identified for autosomal recessive axonal CMT (ARCMT2). We have studied a large consanguineous Moroccan ARCMT2 family with nine affected sibs. The onset of CMT was in the 2d decade in all affected individuals who presented with a severe motor and sensory neuropathy, with proximal muscle involvement occurring in some patients. After exclusion of known loci for CMT2 and for demyelinating ARCMT2, a genomewide search was performed. Evidence for linkage was found with markers on chromosome 1q. The maximum pairwise LOD score was above the threshold value of 3.00, for markers D1S514, D1S2715, D1S2777, and D1S2721, and it reached 6.10 at the loci D1S2777, D1S2721, and D1S2624, according to multipoint LOD-score analysis. These markers defined a region of homozygosity that placed the gene in a 4.4-cM interval. Moreover, a recombination event detected in an unaffected 48-year-old individual excludes the D1S506 marker, thereby reducing the interval to 1.7 cM. In addition, the P0 gene, an attractive candidate because of both its location on chromosome 1q and its role in myelin structure, was excluded by physical mapping and direct sequencing.

Adolescent↗
PubMed1999

Polyradiculoneuropathy revealing a solitary plasmacytoma of the ilium. A new case-report.

Neurological manifestations are uncommon in myeloma patients, and subacute polyradiculoneuropathy as the inaugural manifestations of solitary plasmacytoma of bone is exceedingly rare. We report the case of a 52-year-old man who was evaluated for a three-month history of flaccid tetraplegia with a gradually ascending onset and for a deterioration in general health. Electromyography findings were consistent with polyradiculoneuropathy. Laboratory tests showed a moderate amount of a monoclonal IgG-lambda antibody. Findings were normal from a radiographic bone survey and a radionuclide bone scan. Computed tomography of the pelvis disclosed a solitary osteolytic lesion in the right iliac crest, which was found upon biopsy to be a malignant plasmacytoma. Radiation therapy and chemotherapy were given. Subacute or chronic polyradiculoneuropathy as the inaugural manifestation of solitary plasmacytoma is exceedingly rare and should be distinguished from the sensorimotor polyneuropathy produced by plasma cell infiltration in some multiple myeloma patients. The polyradiculoneuropathy of solitary plasmacytoma can be likened to the neuropathies seen in some forms of multiple myeloma (sclerotic myeloma and POEMS syndrome). The pathophysiology of these neuropathies remains obscure. The case reported here suggests that patients with unexplained lasting polyradiculoneuropathy should be investigated for a plasma cell proliferation even if they have no serum monoclonal component. Because plasmacytomas are painless, imaging studies are needed for their diagnosis. The management of the neuropathy consists in treatment of the tumor.

Bone Neoplasms↗
PubMed1999

Rigid spine syndrome. Two case-reports.

UNLABELLED: Rigid spine syndrome is characterized by massive spinal rigidity, usually most marked in the cervical region. Stiffness of the peripheral joints is sometimes present. We report two cases. Patient 1 was a 12-year-old boy diagnosed at three years of age with Duchenne's muscular dystrophy because of delayed onset of walking. Contracture of the Achilles tendons, flexion contracture of the elbows, and loss of motion of the cervical spine were the main findings during the current evaluation. Radiographs of the affected joints were normal. An electrocardiogram showed an incomplete left bundle branch block. Muscle enzyme activities were moderately elevated. A myopathic pattern was seen on the electromyogram. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. Patient 2 was a 39-year-old man with a five-year history of isolated rigidity of the cervical spine thought to be due to a spondylarthropathy. Extension was the only movement possible at the cervical spine. The peripheral joints showed no motion range limitation. Findings were normal from radiographs of the spine and sacroiliac joints, an erythrocyte sedimentation rate determination, an electromyogram, and muscle enzyme activity assays. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. DISCUSSION: Rigid spine syndrome is rare in rheumatological practice and can simulate a number of other muscle and joint diseases. Peri- and endomysial fibrosis may be strongly suggestive, although nonpathognomonic. Involvement of the heart governs the prognosis.

Adult↗
PubMed1998

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1) is a rare, autosomal recessive disorder characterized by onset at age 6-16 years, generalized seizures, incapacitating myoclonus, and variable progression to cerebellar ataxia. The gene that causes EPM1, cystatin B, encodes a cysteine proteinase inhibitor. Only a minority of EPM1 patients carry a point mutation within the transcription unit. The majority of EPM1 alleles contain large expansions of a dodecamer repeat, CCC CGC CCC GCG, located upstream of the 5' transcription start site of the cystatin B gene; normal alleles contain two or three copies of this repeat. All EPM1 alleles with an expansion were resistant to standard PCR amplification. To precisely determine the size of the repeat in affected individuals, we developed a detection protocol involving PCR amplification and subsequent hybridization with an oligonucleotide containing the repeat. The largest detected expansion was approximately 75 copies; the smallest was approximately 30 copies. We identified affected siblings with repeat expansions, of different sizes, on the same haplotype, which confirms the repeat's instability during transmissions. Expansions were observed directly; contractions were deduced by comparison of allele sizes within a family. In a sample of 28 patients, we found no correlation between age at onset of EPM1 and the size of the expanded dodecamer. This suggests that once the dodecamer repeat expands beyond a critical threshold, cystatin B expression is reduced in certain cells, with pathological consequences.

Adolescent↗
PubMed1998

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

Spinocerebellar ataxia 7 (SCA7) is caused by the expansion of an unstable CAG repeat in the first exon of the SCA7 gene. We have analyzed the SCA7 mutation in 19 families and one isolated case of various geographical origins, presenting with autosomal dominant cerebellar ataxia with progressive macular dystrophy. The SCA7 CAG repeat was expanded in 77 patients and in 11 at-risk individuals, with alleles containing from 37 to 130 repeats, demonstrating that SCA7 is genetically homogeneous. Repeats on normal alleles contained from 7 to 35 CAGs. There was a strong negative correlation (r = -0.84) between the age at onset and the size of the CAG repeat expansion in SCA7 patients. Larger expansions were associated with earlier onset, a more severe and rapid clinical course, and a higher frequency of decreased vision, ophthalmoplegia, extensor plantar response and scoliosis. The frequency of other clinical signs such as dysphagia and sphincter disturbances increased with disease duration. The mutation was highly unstable during transmission, with a mean increase of 10 +/- 16 CAG repeats, which was significantly greater in paternal (15 +/- 20) than in maternal (5 +/- 5) transmissions. This correlated well with the marked anticipation (19 +/- 13 years) observed in the families. Gonadal mosaicism, observed in the sperm of a patient, was particularly important, with expanded alleles ranging from 42 to >155 CAG repeats. The degree of instability during transmission, resulting mostly in expansions, is greater than in the seven other neurodegenerative disorders caused by polyglutamine expansions.

Adolescent↗
PubMed1998

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

X linked Charcot-Marie-Tooth disease (CMTX) is a hereditary motor and sensory neuropathy caused by mutations in the connexin 32 gene (Cx32). Using the SSCP technique and direct sequencing of PCR amplified genomic DNA fragments of the Cx32 gene from a Moroccan patient and her relatives, we identified the first de novo mutation of the Cx32 gene, consisting of a deletion of a G residue at position 499 in the Cx32 open reading frame. This previously unreported mutation produces a frameshift at position 147 in the protein and introduces a premature stop codon (TAG) at nucleotide 643, which results in the production of a truncated Cx32 molecule. This mutation illustrates the risk of an erroneous diagnosis of autosomal recessive CMT, especially in populations where consanguineous unions are frequent, and its consequences for genetic counselling, which can be avoided by molecular analysis.

Adolescent↗
PubMed1997

Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene.

Mediterranean myoclonus is a progressive myoclonus epilepsy with autosomal recessive inheritance. Another form has been described in Finland, the so-called Baltic myoclonus. Mediterranean myoclonus and Baltic myoclonus are also known as Unverricht-Lundborg disease. Linkage analyses have shown that the genes for both these forms of myoclonus are closely linked to 21q22.3 DNA markers, suggesting that they are caused by mutations at the same locus (EPM1). Recently, two heterozygous mutations were found in the cystatin B gene in patients with Unverricht-Lundborg disease. We report recombinational and linkage disequilibrium mapping of EPM1, and cystatin B gene sequencing, in 14 consanguineous pedigrees with Mediterranean myoclonus. Linkage to 21q22.3 DNA markers was observed in all these families. Haplotype analysis suggests that a common mutation segregates within these pedigrees, and that this mutation is different from the common one responsible for the Finnish form of Unverricht-Lundborg disease. No mutation was found in the exons or splice junctions of the cystatin B gene in the 14 pedigrees.

Base Sequence↗
PubMed1997

[Cerebral infarction, pseudolupic syndrome and myxoma of the left atrium].

Left atrial myxomas are a rare stroke etiology (0.4%). They frequently present general symptoms such as fever, weight loss and an inflammatory syndrome, but the pseudolupic syndrome with cutaneous features and vasomotor symptoms is rarely described. We report the case of a 38-year old man who presented in March 1995 a stroke caused by a left atrial myxoma. There was also pseudolupic clinical and biological manifestations which disappeared after ablation of the myxoma. Cerebral angiography showed a small carotid aspect which evoked carotid dissection or carotid siphon occlusion. The authors discuss neurologic and pseudolupic manifestations of left atrial myxomas, and their physiopathologic mechanism.

Adult↗
PubMed1997

[Neck-tongue syndrome: a case caused by atlanto-axial osteoarthritis of tuberculous origin].

The neck-tongue syndrome involves paroxystic pain in the nape of neck associated with sensitive disorders of the ipsilateral hemitongue aggravated by movements of the nape of neck. It is attributed to relating fibers of proprioceptive origin which pass through the great nervus hypoglossus from the second cervical stria. The lingual pseudoathetosis is also reported to a proprioceptive deafferentation of the tongue. In most of cases, no etiology has been found. We report a case of neck-tongue syndrome with pseudoathetosis, related to an atloaxoid osteoarthritis of tuberculous origin.

Atlanto-Axial Joint↗
PubMed1996

[Cerebral vascular accidents due to hydatid embolisms. Apropos of 2 cases].

Hydatid cysts of the brain are very rare. Exceptionally, signs and symptoms are primarily those of acute cerebral ischaemia. Two cases of acute cerebral ischaemia are reported in a 21 year old and 40 year old women. A computed tomographic scan revealed a middle cerebral artery (MCA) infarct and an abrupt cutoff of the MCA at cerebral angiography. A few months later, a CT scan showed cysts in the territory of the infarct. Hydatid cysts were also found in multiple viscera, particularly in the heart. These two observations and some cases reported in the literature suggested that the myocardial cyst may have ruptured into the ventricular cavity, resulting in widespread intravascular dissemination of embryo and causing an acute cerebral infarction. The interest of these cases lies in the rarity of an acute cerebral ischaemia due to hydatid cyst embolism, and in the early diagnosis of cardiac cysts in young patients.

Adult↗
PubMed1996

[Pure motor hemiplegia with ipsilateral lingual palsy caused by pontine infarction].

A 36 year old diabetic man developed a pure motor hemiplegia (PMH) associated with an ipsilateral lingual palsy. Magnetic resonance imaging revealed a pontine infarct. Lingual palsies have never been reported in patients with PMH so far, but may be associated with other lacunar syndromes such as the "dysarthria-clumsy hand syndrome". This observation supports the hypothesis that corticohypoglossal pathways may have bilateral and assymetrical projections.

Adult↗
PubMed1995

[Fahr syndrome and dysparathyroidism. 3 cases].

Fahr's disease associates various degrees of neuropsychological impairment and calcium deposits in the basal ganglia. We report 3 cases. The first case was a 54-year-old man with hemichorea of one-year duration. Laboratory results demonstrated idiopathic hypoparathyroidism. In the second case, a 23-year-old man treated for epilepsia for 8 years was hospitalized for subintrant episodes and hemichorea. Dysmorphism and laboratory results led to the diagnosis of pseudo-hypothyroidism. The third case was a 62-year-old woman with generalized seizures of epilepsia and dementia of two-month duration. Physical examination revealed extra-pyramidal rigidity. Hyperparathyroidism due to an adenoma was confirmed histologically. In all three patients, correction of phosphocalcium levels led to clinical improvement, particularly with disappearance of the epileptic seizures and abnormal movements. Clinical expression of Fahr's syndrome varies greatly. Symptoms include psychiatric disorders, epileptic seizures, extra-pyramidal syndrome and various neurological conditions. Diagnosis requires CT brain scan which identifies calcium deposits in the basal ganglia. The main cause is hypoparathyroidism, whether primary or post-operative. Cases due to other causes of dysparathyroidism are rare. The pathophysiology of this condition remains unknown and results of treatment are often unsatisfactory. Since correcting the impaired calcium phosphorus metabolism often leads to considerable improvement, it is essential to systematically search for dysparathyroidism in patients presenting with neuropsychologic manifestations associated with calcifications of the basal ganglia.

Adult↗