Biomedical subjects

G Ponsot

Publications and source records attributed to G Ponsot.

153 records · Page 9Linked to original sources

PubMedDate not supplied

Genetic predisposition to West syndrome.

To determine the recurrence risk of West syndrome (WS), we studied the familial antecedents of consecutively referred patients. Among siblings, there was an increased incidence of WS but not of febrile convulsions. Familial incidence of epilepsy was intermediate between the epileptic and nonepileptic control groups. When cases resulting from a genetically determined disease were excluded, incidence of epilepsy among siblings was similar to that in normal controls. Five of the 11 familial cases of WS were due to an identifiable cause: twin pregnancy, tuberous sclerosis, and recurrent maternal toxemia. In 4 of the remaining families, the clinical picture included spasms, erratic myoclonus, and postnatal microcephaly, suggestive of a previously unidentifiable progressive encephalopathy. Therefore, when identifiable familial diseases were excluded, the recurrence risk was < 1%.

Child, Preschool↗

PubMedDate not supplied

[Indifference to pain secondary to congenital sensory neuropathy. Apropos of a new case].

The authors report a new case of indifference to pain secondary to hereditary sensory neuropathy in a 3 year 9 month-old boy. This child presented with isolated diffuse deficiency of pain and heat sensitiveness with preserved touch without any other neurologic involvement or anhidrosis. Nerve biopsy showed the complete lack of amyelinic fibers. P substance, which might act as a mediator or modulator of the nociception, was absent from the cutaneous nerve endings.

Child, Preschool↗

PubMedDate not supplied

[Uveo-meningitis revealing a West African trypanosomiasis in a 12-year-old girl].

The case of a 12 year-old European girl who lived in Senegal for 9 months and who presented with Western-African trypanosomiasis is reported. The diagnosis was made because of the occurrence of uveomeningitis following progressive alteration of her general condition. A favorable outcome was observed after two intravenous courses of Eflornithine (difluoromethylornithine, DFMO).

Animals↗

PubMedDate not supplied

[Delayed cortical hyperostosis in children].

A case of recurrent infantile cortical hyperostosis in a 3 1/2 year-old girl is reported. Nine other late cases have been previously described. When compared with Caffey's disease, this delayed form of the illness constitutes a distinct homogeneous syndrome of unknown etiology.

Child, Preschool↗

PubMedDate not supplied

Menkes disease: a Golgi and electron microscopic study of the cerebellar cortex.

A neuropathological study of a case of Menkes disease is reported, illustrating the involvement of different types of neuronal cells. The cerebellum showed the most striking abnormalities: severe lack of internal granule cells. Purkinje cells with weeping willow pattern, numerous segmental enlargements of dendritic trunks and secondary branches, and presence of numerous eosinphilic spherical bodies in the molecular layer were the most conspicuous features. Using electron microscopy, the dendritic enlargements were observed to be made of both proliferated and enlarged mitochondria, and of saccules of smooth endoplasmic reticulum. The spheroid bodies in the molecular layer were mainly made of concentric lamellar structures which seemed to be proliferated smooth endoplasmic reticulum. The relationship between these morphological abnormalities and the metabolic disorder of Menkes disease is discussed.

Brain Diseases, Metabolic↗

PubMedDate not supplied

[Cerebral cysticercosis. Apropos of a case treated with praziquantel].

The authors report a case of cerebral cysticercosis in a 17 year-old adolescent. Partial seizures and moderate functional signs of intracranial hypertension were the presenting symptoms. Treatment with Praziquantel under corticosteroid therapy was successful with almost complete disappearance of radiologic abnormalities on the computerised tomographic examination performed 7 months after the end of treatment.

Adolescent↗

PubMedDate not supplied

[Progressive chronic rubella encephalitis. Report of a personal case (author's transl)].

This is a report on a now alive, 18 years old boy. He was affected by a progressive encephalitis which began between 7 and 12 years of age. The first signs were walking disorders and mental regression. The disease which developed during a few years led to a bed-ridden state and advanced mental deficiency. Strong biological arguments (analysis of the cerebrospinal fluid, virological study, brain biopsy) and comparison with several similar cases published before leading to the conclusion of rubella origin of this encephalopathy, despite of the absence of known history of congenital or acquired rubella in our case.

Adolescent↗

PubMedDate not supplied

[Benign intracranial hypertension in infancy and childhood. Comment upon 33 cases (author's transl)].

The authors report 33 observations concerning benign intracranial hypertension in 4 months to 15 year-old children. They emphasize the prevalence of this syndrome and the frequent absence of papilloedema at this age period. CCT scan is the neuroradiologic procedure of choice to exclude an intracranial lesion. It is important to note the exceptional evolution to a secondary optic atrophy.

Adolescent↗

PubMedDate not supplied

[Mondini's syndrome. Recurrent meningitis. Surgical cure (author's transl)].

The authors report 3 cases of meningitis in children. In every case of meningitis, and furthermore in recurrent in cases of meningitis, it is essential to examine not only the eardrum but also hearing and, when there is a deafness, tomographic shots should be taken of the labyrinth to look for a malformation of the internal auditory canal or the cochlea so as to detect the portal of entry for the infection and to be able to close it surgically.

Child↗