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Biomedical subjects

N Telerman-Toppet

Publications and source records attributed to N Telerman-Toppet.

At least 19 recordsLinked to original sources
PubMed1997

Toxoplasma encephalitis in a HIV patient: unusual involvement of the corpus callosum.

In patients with acquired immuno-deficiency syndrome, the differential diagnosis between primary brain lymphoma and toxoplasma encephalitis is not radiologically always straightforward, especially in the presence of a solitary cerebral lesion. In this context, involvement of the corpus callosum is almost exclusively associated with primary brain lymphoma. We describe here an HIV-infected patient who presented with a single and large cerebral lesion affecting the corpus callosum, suggestive of primary brain lymphoma on MRI-scan but who nonetheless responded clinically and radiologically to an anti-toxoplasma drug trial confirming the diagnosis of toxoplasma encephalitis.

Adult↗
PubMed1992

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA.

We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and decreased respiratory chain activity. All five patients had a severe decrease (2 to 34% of normal) in the amount of muscle mitochondrial DNA (mtDNA). The depletion of mtDNA correlated with absence of mtDNA-encoded translation products and with loss of cytochrome c oxidase enzyme activity in individual muscle fibers. This mitochondrial myopathy of childhood illustrates one phenotypic expression of a novel pathogenetic mechanism in mitochondrial diseases, the specific depletion of mtDNA in affected tissues.

Blotting, Southern↗
PubMed1992

[Reversible spastic triparesis with hyperammonemia].

A 24-years old alcoholic man was admitted for a spastic triparesis. Despite mild hepatic failure without objective portosystemic shunt, this encephalomyelopathy was related to an hyperammonemia. This case is unusual by the recovery of the neurological deficit.

Adult↗
PubMed1992

Movement disorders due to cerebral Toxoplasma gondii infection in patients with the acquired immunodeficiency syndrome (AIDS).

Hemichorea and parkinsonism are unusual manifestations of cerebral toxoplasmosis in patients with AIDS. We here describe two such cases and we reviewed extensively the literature (through computer searches using MEDLINE) for other reported instances. In our patients, unlike the other neurological symptoms, the response of the movement disorders to anti-toxoplasmosis therapy was delayed and only partial. We demonstrate that tetrabenazine is a valuable additional symptomatic treatment for choreic movements in one of our patients. We emphasize that, among patients suffering from AIDS, particularly in countries with high prevalence of toxoplasmosis, the occurrence of movement disorders should first suggest the diagnosis of cerebral toxoplasmosis.

Acquired Immunodeficiency Syndrome↗
PubMed1991

[Mitochondrial encephalopathy affecting only the central nervous system].

A 32 year-old diabetic woman presented with an acute coma followed by epileptic seizures, aphasia and constructive apraxia. No ischemic lesion was demonstrated by CT scan and carotid angiograms. The other investigations showed sensorineural hearing loss, retinal degeneration, calcifications of the basal ganglia and lactic acidosis. The follow-up was marked by pseudo-dementia with personality disorders, memory deficits, behavioural changes, migrainous and epileptic features. Although there was no sign of muscular deficiency, a muscular biopsy showed characteristic ragged-red fibers and mitochondrial abnormalities at electron microscopy. The muscular biopsy enables us to classify this case as a mitochondrial encephalopathy similar to the MELAS syndrome. The stroke-like episodes are probably caused by a specific angiopathy involving the mitochondria of brain vessels.

Adult↗
PubMed1991

[Sporadic Z disk myopathy with accumulation of rods and cytoplasmic bodies].

An unusual myopathy with extensive myofibrillar degeneration related to the Z disk is reported. Focal Z disk disappearance, accumulation of numerous rods and cytoplasmic bodies and some rimmed vacuoles represented the major pathologic features of this sporadic muscular disorder, sharing common clinical and electrophysiological features with inclusion body myositis. This diagnosis was excluded because all nuclei appeared normal and 15-18 nm filaments were not observed in cytoplasm or in the vicinity of membranous whorls. Intramuscular innervation was studied by vital staining with methylene blue: the terminal innervation ratio was normal, indicating a myopathic disorder. The relationship between the present disorder and cytoplasmic bodies and nemaline myopathies is discussed.

Cytoplasmic Granules↗
PubMed1985

Familial myopathies with restricted distribution, facial weakness and inflammatory changes in affected muscles.

A myopathy characterized by restricted involvement of few muscles and inflammatory cell infiltration was observed in three families. In the first family, clinical features, hereditary transmission and biopsy findings were consistent with the diagnosis of facioscapulohumeral dystrophy. However in three of the four affected members, the occurrence of atrophies was specifically initiated by severe muscular pain. In the second family two 8-year-old identical twins had both marked facial weakness and atrophy limited to the right quadriceps femoris. In the third family, marked asymmetry of muscular wasting in the upper limbs was found in the 17-year-old daughter of a man suffering from facial and axial weakness. The indication of corticotherapy in such cases is discussed.

Adolescent↗
PubMed1983

[Changes in the motor units in patients with traumatic paraplegia].

Neuromuscular biopsies were obtained in 10 patients with traumatic spinal cord lesions at various levels and in one patient with cerebral lesions due to a long lasting coma. In all cases, there was a rapid onset of both fibers types atrophy, with numerous transitional type III and intermediate fibers. Only the two patients with cervical lesions had an increased terminal innervation ratio suggesting denervation. Our observations do not support the hypothesis of a transneuronal degeneration. These changes cannot be related to disuse only as the atrophy does not preferentially involve type II fibers. The underlying neural mechanism of spasticity in muscle of patients with cortico-spinal lesions could explain the change of the histochemical pattern of the muscle fibers.

Adult↗
PubMed1981

Neurogenic benign fasciculations, pseudomyotonia, and pseudotetany. A disease in search of a name.

We studied two patients with abnormal spontaneous muscular activity. The first had widespread fasciculations, painful spasms, delayed muscular relaxation, and hyperhidrosis. Improvement occurred after several years. The second case had generalized paresthesia, mild stiffness, a positive result from Trusseau's test, and was relieved by administration of carbamazepine. Both patients had abnormal conduction velocity. Examination of muscle biopsy specimens disclosed fiber type grouping and increased collateral ramification of motor axons. These observations exemplify symptoms and signs that resemble those of myotonia and tetany and occasionally occur in partial denervation. they provide additional evidence of the neurogenic nature of Isaacs-Mertens syndrome.

Adult↗
PubMed1981

Adult form of basal cell naevus syndrome: a family study.

A 32-year-old patient had marked reduction of visual acuity due to falciform folds of the retina and retinal detachment, and severe neurological abnormality: bilateral pyramidal involvement, fasciculation in all limbs and gait ataxia. Skull radiographs showed internal frontal hyperostosis; CT scan showed calcification of the falx cerebri, and multiple arachnoid cysts were shown by myelography. A naevoid lesion had previously been removed from the left forearm. There was a history of ophthalmological symptoms in the mother and the daughter of the propositus. His son has "café au lait" spot on the abdomen and dentigerous cysts. The diagnosis of an adult form of basal cell naevus syndrome with an autosomal dominant mode of inheritance is discussed.

Adult↗