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Biomedical subjects

M Ben Hamida

Publications and source records attributed to M Ben Hamida.

At least 19 recordsLinked to original sources
PubMed1992

Childhood peripheral neuropathy with autoantibodies to myelin glycoprotein P0.

The serum of a 4-year-old child with severe hypertrophic peripheral neuropathy contained high-titer polyclonal antibodies, mainly of IgG class, reacting with the 30-kd P0 glycoprotein of peripheral nerve. This was demonstrated by indirect immunofluorescence, immunoblot analysis of myelin proteins, and enzyme-linked immunosorbent assay with purified P0 glycoprotein. The antibodies did not react with myelin-associated glycoprotein, sulfated glycuronic acid-containing paragloboside (SGPG and SGLPG), or other peripheral nerve glycolipids or gangliosides. To our knowledge this is the first report of strong antibody activity specifically directed against P0. This antibody may play a causative role in the pathogenesis of the peripheral neuropathy in this patient.

Autoantibodies↗
PubMed1992

Evolution of muscle specific proteins in Werdnig-Hoffman's disease.

The pattern of expression of desmin, vimentin, titin and different myosin isoforms expressed in atrophic and hypertrophic type I and type II muscle fibers was investigated in 7 biopsies from patients of various ages all diagnosed as suffering from Werdnig-Hoffman's disease. The results revealed that there was a progressive atrophy affecting both type I and type II muscle fibers. The proportion of atrophic type II fibers increased with age. These atrophic fibers expressed predominantly fast MHC together with variable amounts of embryonic and fetal abnormal concentrations of desmin, vimentin and titin were also observed in some of these fibers. Hypertrophic type I fibers expressed exclusively slow MHC. These results are in good agreement with the hypothesis that Werdnig-Hoffman's disease is associated with a persistence of slow twitch type I motor units and a loss of phasic type II motor units. They also confirm that the atrophic fibers were frequently immature although embryonic MLC was never detected in these muscles. In addition we have demonstrated that the hypertrophic fibers were not completely normal since they frequently contained abnormal concentrations of desmin and titin at their periphery.

Atrophy↗
PubMed1992

Duchenne muscular dystrophy in Tunisia: a clinical and morphological study of 77 cases.

Two types of progressive muscular dystrophy occur in Tunisian children. The first type is characterized by normal dystrophin assays and affects girls and boys in an autosomal recessive pattern of inheritance. The second type has the features of the typical Duchenne muscular dystrophy (DMD) and has abnormal dystrophin. Between 1974 and 1986, 77 patients with Duchenne muscular dystrophy were examined, 66 were biopsied. Among affected siblings and within family kindreds, we observed both clinical and histopathological variability. However, there was a close correlation between the clinical condition and the biopsy findings in each case, allowing accurate prediction of the patient's course and probable duration of the disease.

Adolescent↗
PubMed1992

Age-dependent axonal loss in nerve biopsy of patients with xeroderma pigmentosum.

We describe the histomorphometric changes in the superficial peroneal nerve biopsy from 13 patients with xeroderma pigmentosum (XP). The mean age at time of biopsy was 15 yr (range 2.5-24 yr). The clinical examination was normal in the two youngest patients and showed absence of the deep tendon reflexes, with choreo-athetosis in ten patients. In addition, in the three oldest patients there were cerebellar signs, ataxia and Babinski signs. The nerve biopsy showed an age-dependent decrease of myelinated fibres, which was mild in the youngest and severe in the oldest patients. This was associated with rare acute axonal degeneration, sparse axonal regeneration, rare axonal atrophy and few onion bulb formations. These findings suggest a neuropathic process. This neuronal degeneration seems to be a progressive and stereotyped phenomenon in XP.

Adolescent↗
PubMed1992

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at theta = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.

Centromere↗
PubMed1992

[Candida albicans meningitis and neurosarcoidosis].

We report a clinico-pathological case of neurosarcoidosis characterized by chronic meningitis, intracranial hypertension, bilateral optic atrophy, arthritis and enlargement of liver and lung hilar nodes. Synovial and supraclavicular node biopsies showed multiple non caseating nodules without tubercle bacilli, Candida albicans and Cryptococcus neoformans. Post-mortem examination showed a severe meningeal lymphoplasmocytic infiltration with numerous non-caseating nodules, several giant cells and presence of Candida albicans. There were also a periventricular infiltration of similar cells and numerous cerebral and cerebellar infarctions. We think that the Candida albicans meningitis was a consequence of the immunodepression of sarcoidosis and of corticosteroid therapy.

Adult↗
PubMed1992

[Antenatal bilateral sylvian infarction and congenital syphilis].

BACKGROUND: The classical symptoms of congenital neurosyphilis include meningovascular lesions that are responsible for CSF abnormalities. Lesions of larger vessels are very unusual. CASE REPORT: A boy was born from a neglected pregnancy, weighing 2.7 kg. He was abandoned by his parents and was admitted to hospital at 40 days of age (weight: 2,220 g; height: 47 cm; head circumference: 22 cm) with axial hypotonia, peripheral spasticity and shock syndrome. The TORCH screen was negative but the Treponema Pallidium Hemagglutination Assay (TPHA) was positive. The infant died 4 days later. Brain pathological studies revealed meningoencephalitis and bilateral sylvian infarction. CONCLUSION: Local arteritis due to syphilis usually concerns small arteries, such as the meningeal and cortical vessels. The occlusion of the two middle cerebral arteries seen in this patient, which were responsible for atrophy of the parietal lobes, is uncommon in congenital syphilis.

Cerebral Arteries↗
PubMed1992

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Friedreich ataxia gene and which should orient the search in the D9S5 region.

Adolescent↗
PubMed1992

[Juvenile amyotrophic lateral sclerosis. Study of 43 cases].

The authors reported 17 cases of common form of juvenile amyotrophic lateral sclerosis (ALS), 14 cases with spastic paraplegia and peroneal atrophy, and 12 other cases belonging to one single family with spastic pseudo-bulbar paraplegia. The absence of sensory disturbances, the normal motor and sensory conduction velocities, the normal feature of sensory nerve biopsy allowed to include these 3 groups of patients in the frame of Juvenile ALS which is chronic and benign disease. The authors discussed these observations on the light of the literature data on familial spastic paraplegia and primary lateral sclerosis.

Adolescent↗
PubMed1991

Modification in the expression and localization of contractile and cytoskeletal proteins in Schwartz-Jampel syndrome.

Muscle biopsies taken from 4 patients with clinical diagnosis of Schwartz-Jampel syndrome were analyzed by enzyme-histochemical immunocytochemical and biochemical techniques. In situ distribution of the different myosin heavy chain (MHC) isoforms together with that of the cytoskeletal proteins vimentin, desmin and titin was determined in type I, type IIA, type IIB and type IIC fibers. The same muscle biopsies were analyzed for their content in myosin light chains (MLC) by two-dimensional gel electrophoresis and native myosin isoforms by pyrophosphate gel electrophoresis. The opportunity to study 4 patients of different ages, all members of the same family, permitted us to reveal several interesting features in this rare and so far poorly understood muscle pathology. (i) We observed a predominance of slow (type I) fibers in the oldest patient. (ii) Two classes of small clusters of atrophic type IIC fibers were observed. The first class corresponded to fibers which coexpressed embryonic, fetal and fast, but not slow, MHC isoforms. The fibers also displayed an abnormal distribution of desmin, vimentin and titin. The second class was composed by fibers coexpressing embryonic, fetal, fast and slow, MHC isoforms. In contrast to that observed for the first class, fibers in the second class displayed a normal pattern of expression of desmin, vimentin and titin. (iii) A familial heterogeneity was observed between the 4 patients. The pathological processes involved in the evolution of this syndrome are discussed.

Adolescent↗
PubMed1991

[Peripheral neuropathy in a sporadic case of cerebrotendinous xanthomatosis].

The authors report the case of a 22-year old man presenting with cerebrotendinous xanthomatosis who developed peripheral neuropathy. Nerve biopsy showed evidence of demyelination and remyelination, suggesting axonal degeneration. The neurological symptoms improved after treatment with chenodesoxycholic acid.

Adult↗
PubMed1991

[Clinical and genetic analysis of 188 families with spinocerebellar degeneration. Friedreich's disease and P. Marie's hereditary ataxias].

Based on the hereditary ataxias concepts and a large field survey, the authors analyzed 392 cases of spino-cerebellar degeneration belonging to 188 families. Two main clinical groups were identified: 227 cases of Friedreich ataxia and 74 cases of cerebellar hereditary ataxia of P. Marie type. The association in the same patient of peroneal atrophy of Charcot Marie type with Friedreich ataxia (17 cases) or P. Marie cerebellar hereditary ataxia (13 definite cases and 13 probable) was the most striking finding. "Forme fruste", incomplete form or complex form of Friedreich ataxia were present in some families while in some others there was spastic paraplegia or pure Charcot Marie Tooth disease. This clinical heterogeneity in families of spino-cerebellar degeneration is discussed.

Cerebellar Ataxia↗
PubMed1991

[Clinical and electrophysiological study of 2 familial cases of Marcus Gunn phenomenon].

Two cases of jaw-winking synkinesia or Marcus Gunn (MG) phenomenon are reported, with electromyographic and genetic studies. In the first patient a right eyelid ptosis which had been occurring since birth was associated with a bilateral MG phenomenon confirmed by electromyography. An examination of other family members revealed 3 other cases in the mother's family. The second patient had a congenital left eyelid ptosis associated with an MG phenomenon. His maternal uncle and his mother also had this "jaw-winking" synkinesia. The authors discuss the physiopathology of this complex phenomenon up to now without known neurological lesions. Concerning the genetic aspect of the MG phenomenon, they conclude that in their patients the hereditary pattern was that of an incomplete autosomal dominant trait with varied expressivity in the two families.

Adolescent↗
PubMed1991

[Schwartz-Jampel syndrome. Clinical and histopathological study of 4 cases].

Four cases of Schwartz-Jampel syndrome are reported. Clinical manifestations began in infancy with slowly progressive bone deformities, dwarfism and prominent myotonia. All patients were issued from 2 families with consanguineous healthy parents. Three among them belonged to the same sibship. Present evidence favors a recessive mode of inheritance. Nerve biopsy was normal. Muscle biopsy showed dystrophic changes with streaming of Z-lines in all four cases. Mitochondria were greatly swollen. Glycogen particles were present in the spaces between the affected myofibrils and in the swollen mitochondria. These data showed that the nerve was preserved and that the disease affected mainly voluntary muscle.

Child↗
PubMed1990

Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.

We describe a large kindred of 6 patients with a slowly progressive autosomal recessive form of giant axonal neuropathy (GAN). The propositus presented with progressive infantile onset of distal amyotrophy of 4 limbs, brisk reflexes, diffuse fasciculations, bulbar signs, and deep sensory loss in both lower limbs. The EMG and nerve biopsy showed typical hypertrophic neuritis. In 4 patients, there were giant axons filled with neurofilaments, with normal conduction velocity. In the youngest boy, the neurologic deficit was less severe, and the nerve biopsy revealed only a few unmyelinated axons filled with neurofilaments. These cases appear to represent a different genetic defect from other reported cases of GAN.

Adult↗