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Biomedical subjects

P Chaine

Publications and source records attributed to P Chaine.

15 recordsLinked to original sources
PubMed2006

[Wilson disease].

Wilson disease is an autosomal recessive disorder of copper overload. A principal characteristic of this disease is its wide phenotypic and genotypic variability. Its results from mutations of the ATP 7B gene located on chromosome 13, that encodes a hepatic copper transport protein. More than 300 mutations of this gene have been identified. This protein ensures the transport of copper in the hepatocyte, its incorporation with the apoceruloplasmin and its biliary excretion. The clinical manifestations are heterogeneous as well in their presentation, dominated by the neuropsychiatric and hepatic symptoms, as in the age of the first symptoms. Early recognition and initiation of therapy with chelators or zinc are essential for prognosis. Liver transplantation is indicated in cases with fulminant hepatitis, end-stage liver cirrhosis and should be considered in the therapy resistant neurological forms. A regular follow-up with monitoring of adverse effects of treatment and compliance is essential. Any discontinuation of treatments will involve, within a very variable time, but in constant manner, a reappearance or a reaggravation of the signs. Such relapses are often brutal and can be extremely serious, especially since response to subsequent treatment is often poor.

Brain↗
PubMed1993

[Meningoradiculitis disclosing T-lymphocyte leukemia in HTLV-1 infection].

A case of HILV1-associated adult T cell leukaemia/lymphoma (ATLL) in à 21-year olf African woman is reported. The patient presented with lymphomatous meningoradiculopathy. The usual clinical features of ATLL were absent. Lumbar MRI showed a pial enhancement by DTPA-gadolinium of the conus medullaris which extended to the proximal cauda equina. Under systemic chemotherapy coupled with intrathecal chemotherapy the patient progressively improved, and at the second MRI examination complete disappearance of the lumbar enhancement was observed. MRI of the brain using axial and coronal T2-weighted sequences detected multifocal lesions of high-intensity signal in the subcortical white matter. ATLL is unusual in people of African origin. The ATLL-strongyloïdes infestation association has previously been reported, suggesting that parasitic infestation may be an important co-factor leading to the development of ATLL.

Adult↗
PubMed1990

Infarction in the territory of the medial branch of the posterior inferior cerebellar artery.

We report 10 cases of cerebellar infarction in the territory of the medial branch of the posterior inferior cerebellar artery (mPICA). Axial sections on MRI through the middle of the medulla and the cerebellum showed the infarction as a triangular area with a dorsal base and a ventral apex directed towards the fourth ventricle. The infarct also involved the lateral and dorsal medulla when the mPICA supplied all or part of these regions. Three clinical patterns were observed: 1) pseudolabyrinthine signs with or without dysmetria and ataxia when the medulla was spared; marked axial lateropulsion was present in most cases; 2) complete or incomplete Wallenberg's syndrome, when the medulla was involved; 3) silent infarction. These syndromes are precisely those previously attributed to PICA occlusion without distinction of the branch involved. No alteration of consciousness was recorded and spontaneous recovery was the rule. Cerebellar infarction in the distribution of the mPICA can be regarded as a benign condition with a good prognosis.

Aged↗
PubMed1988

[Sleep abnormalities and evoked potentials (VEP-BAER-SEP) in progressive supranuclear palsy].

Few physiological studies have been performed in PSP. We studied: sleep abnormalities in 36 h polygraphic recordings; changes of PEV after pattern-reversal stimulation, of BAER and of short latency SEP after stimulation of the median nerve. The population was for the 1st group: 18 patients with full typical symptomatology, for the 2nd group: 7 patients with likely diagnose of PSP and for the 3rd group: 10 normal subjects as control sample. All patients of the 1st group had sleep abnormalities: decrease of total sleep time; decrease of the percentage of REM sleep; morphological abnormalities (specially horizontal ocular square wave jerks). Detail is given of the repartition of such abnormalities in the two groups of patients. There is no correlation between sleep abnormalities and the natural history of the disease. The PEV and BAER, abnormalities were present in 50% of the cases. The PES were always normal. The help that can be provided by electrophysiological studies in the diagnose of PSP is discussed (particularly in group 2).

Aged↗
PubMed1988

[Neurological manifestations in relation to vitamin E deficiency, caused by a defect of biliary acid synthesis].

A progressive neurological syndrome with cerebellar signs, abnormal proprioception, areflexia and Babinski response was observed in a child with chronic intestinal malabsorption. There was no ophtalmoplegia or retinitis pigmentosa. Electromyography and biopsy showed no axonopathy or myopathy. Two other members of the family were also affected. The serum Vitamin E corrected the serum Vitamin E levels within a few months and led to secondary neurological improvement. The authors underline the importance of searching for Vitamin E deficiency and its cause in patients, especially children, with signs of spino cerebellar degeneration. Substitative therapy may have a favorable influence on the neurological condition even when administered late.

Bile Acids and Salts↗
PubMed1988

[Progressive muscular atrophy localized in the hand. Monomelic form of motor neuron disease?].

Ten new cases of distal amyotrophy localized in an upper limb are reported. In all cases, patients were young males. The onset of the neurological impairment was always progressive during one to three years. The disease remained stable with a follow-up study of at least three years. Electrophysiological and neuroradiologic results were in keeping with an involvement of the anterior horn cell, in agreement with similar studies found in the literature. The relatively benign evolution of this syndrome, in regard to the usual prognosis of the other forms of motor neuron disease, especially amyotrophic lateral sclerosis, has to be outlined.

Adolescent↗
PubMedDate not supplied

MR Imaging of the cervical cord in juvenile amyotrophy of distal upper extremity.

We report the MR studies of the cervical cord in seven patients presenting juvenile muscular atrophy of distal upper extremity. This illness, also known as monomelic amyotrophy or benign focal amyotrophy, is distinct from the other motor neuron diseases. Seen in young males, it is characterized by muscular atrophy of the hand, and usually of the forearm, most often unilateral. The underlying process, of unknown origin, affects the anterior horn cells in the lower cervical cord. The gradual onset of purely motor disturbances may mimic early amyotrophic lateral sclerosis. This latter diagnosis may be excluded because of clinical stabilization and lack of pyramidal tract involvement. In our series, five MR studies were positive. In three cases we were able to demonstrate focal and unilateral atrophy in the lower cervical cord limited to the anterior horn region. Morphologic MR findings correlated with clinical and electromyographic features. In two other cases the MR-clinical correlation was more complex. No pathologic MR signal was detected on either T1- or T2-weighted images. Although the diagnosis of monomelic muscular atrophy is based on neurologic and neurophysiologic data, MR provides confirmatory evidence as well as useful information contributing to an understanding of this disease.

Adolescent↗