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Biomedical subjects

A Roubertie

Publications and source records attributed to A Roubertie.

26 records · Page 2Linked to original sources
PubMed2000

[Ring chromosome 20: an identifiable epileptic syndrome].

Ring chromosome 20 (RC20) is a rare chromosomopathy characterized by slight mental deficiency, behavioral disorders and epilepsy. We report two cases of ring chromosome 20, who exhibited non convulsive status epilepticus lasting minutes to hours, often triggered by emotional events, with associated typical electroencephalographic features. Our report highlights the features of the electroclinical epilepsy syndrome associated with RC20, which represents a distinct and recognizable entity. The genetic basis of this disorder is discussed.

Adult↗
PubMed1999

[Benign familial infantile convulsions].

Benign familial infantile convulsion is a syndrome recently identified among the epileptic seizures of infancy. The main characteristics are: occurrence before one year of age, brief epileptic bursts of partial type seizures with secondary generalization, excellent prognosis with normal mental and motor development, high familial incidence. This syndrome appears genetically heterogeneous.

Age of Onset↗
PubMed1999

Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1.

Over a period of ten years, a boy had several episodes of coma, lasting three to five days. Each episode was preceded by hemiparesis or paresthesias, aphasia, headaches and behavioural changes, with subsequent loss of consciousness. Partial seizures occurred during the first episode. A history of migraine or hemiplegic migraine was found in several members of the family. Linkage to chromosome 1q21-23, where a gene for familial hemiplegic migraine has been mapped, was shown in this family.

Child↗
PubMed1999

[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case].

Dystonia musculorum deformans is an inherited severe disease, with a wide clinical polymorphism. The most severe clinical forms with early onset carry a high risk of life-threatening complications. In the absence of any efficient medical treatment, bilateral pallidotomy has previously been reported to be of value in the management of this disease. We report the first clinical case of a severe early-onset generalized dystonia dramatically improved by a bilateral stimulation of the internal globus pallidus. In November 1996, we proposed this neurosurgical procedure for a 8-year-old girl, who had suffered since the age of 3 from severe generalized dystonia, and who progressively became totally dependent and bedridden. She had been under sedation and permanent controlled respiratory assistance for the last two months. The etiology of the disease remained unknown (the DYT1 mutation was absent). Under general anesthesia, we bilaterally implanted a four-contacts electrode in the internal globus pallidus, using the Leksell's stereotactic frame and a 1.5 tesla MRI control. A dramatic improvement was noted 6 weeks later and led us to connect the two electrodes to neurostimulators inserted under the abdominal skin.

Age of Onset↗
PubMed1999

Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases.

We report the clinical history and the video-EEG recordings of three young adults with r(20), who exhibited repeated episodes of non-convulsive status epilepticus, often triggered by emotional events. This recognizable clinical entity associates a slight mental deficiency, behavioural disorder and epilepsy, often resistant to treatment and with a particular clinical presentation. We demonstrate with video EEG recording, atypical absence status triggered by emotional behaviour with ictal EEG characterized by bifrontal slow waves, often rhythmic, or sharp waves. Our report highlights the characteristic features of non-convulsive status in this electro-clinical syndrome.

Adult↗
PubMed1998

McArdle's disease in childhood: report of a new case.

McArdle's disease (glycogenosis type V) is an inherited glycogen storage disease characterized clinically by myalgia, cramps and sometimes myoglobinuria, triggered by exercise. The onset of exercise intolerance is usually in late childhood or adolescence and diagnosis is exceptionally established during infancy. We report the case of a 6-year-old girl who had been complaining of aching muscles for a long time, and who presented after a near-drowning incident, with extensive muscle necrosis, probably secondary to myophosphorylase deficiency-induced cramps. These unusual manifestations led to the diagnosis of this rare disorder. We compare the clinical findings of this case to nine previous reports. This highlights the heterogeneous spectrum of this disease in childhood and supports the distinction of three clinical pictures in childhood: a neonatal form rapidly fatal, a milder form with congenital myopathic symptoms and a benign classical form with myalgia, cramps and pigmenturia.

Biopsy↗
PubMed1997

[Ectopic intraspinal extradural anaplastic ependymoma in an infant].

BACKGROUND: Ependymomas represent about 10% of the spinal tumors in children. Some of them may be unusually located. CASE REPORT: A 10-month-old boy was admitted for an abdominal mass syndrome with dehydration asthenia and acute bladder dysfunction. A few hours later, he developed a flaccid paraplegia. Ultrasonic and magnetic resonance spinal imaging showed a giant intraspinal tumor extending from T9 to IA level, posteriorly located to the dural compartment, widening the spinal cord. Ultrasonography also showed right ureterohydronephrosis due to the neurological bladder dysfunction. A conservative laminotomy-laminoplasty was performed in emergency. Total removal of the tumor that was attached to the right dorsal root was achieved extradurally, requiring resection of the proximal part of the root. Histological features were typical of malignant ependymoma. Chemotherapy was initiated 2 weeks later. The severe renal destruction and the persistent bladder dysfunction led to a heminephrectomy and a cystostomy, 3 weeks later. The neurological recovery was only partial with a follow-up of 18 months. CONCLUSION: Ectopic intraspinal extradural localization of ependymomas is rare and their development from a nerve root is exceptional.

Antineoplastic Combined Chemotherapy Protocols↗