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Biomedical subjects

J J Santini

Publications and source records attributed to J J Santini.

At least 19 recordsLinked to original sources
PubMed1992

Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy.

In order to clarify cognitive functions in Duchenne muscular dystrophy (DMD), we performed a new controlled neuropsychological study. IQ (WISC-R), verbal skills (fluency, confrontation naming and syntax comprehension) and memory abilities (BEM) were studied in two matched groups; 24 DMD children and 17 spinal muscular atrophy (SMA) children aged 12-16 yr. A significant difference appeared between the DMD and SMA patients: only in the DMD group were there significant disabilities in certain specific functions and normal scores in others. Despite similar education, the DMD children more often had significantly greater learning disabilities. There were more DMD left-handers. Verbal IQ was significantly low whereas performance IQ was at a normal level. DMD children also performed poorly in reading tasks and in some memory functions such as story recall and verbal recognition. Specific cognitive disabilities in certain DMD children, not seen in SMA children, suggest a relationship with a DMD genetic disorder.

Adolescent↗
PubMed1992

Acute measles encephalitis of the delayed type: neuroradiological and immunological findings.

A case of delayed acute measles encephalitis in an immunosuppressed child is reported. Detailed immunological studies have shown defective humoral immunity (defective IgA, IgG2 and IgG3) and decreased natural killer activity. Neuroradiological examination by magnetic resonance imaging revealed several high signal lesions on T2-weighted images in the gray matter without clinical or pathological correlation. The implications of these findings are discussed.

Antigens, Viral↗
PubMed1991

Disseminated cerebral histiocytosis X responding to vinblastine therapy: a case report.

A case of intracranial histiocytosis X with multiple parenchymal brain lesions is described. Despite severe neuroradiological findings, and involvement of a node and vertebra on presentation, the child is doing well clinically, with outpatient chemotherapy, 36 months after diagnosis. The prognosis of cerebral involvement in such atypical cases should probably be reevaluated. Therapeutic problems are discussed.

Brain Neoplasms↗
PubMed1990

The influence of vigilance states on paroxysmal EEG activities and clinical seizures in children.

We studied the relationships between clinical variables and those related to the states of vigilance in 18 cases of benign partial epilepsy with centro-temporal spike-waves, 22 cases of definite symptomatic partial epilepsy, and 16 cases of undetermined partial epilepsy. The time of day during which the seizures appeared and the paroxysmal activity densities during non-REM and REM sleep are not distributed differently among the 3 electro-clinical types. However, the benign epilepsy with centro-temporal spikes group had more patients with sleep-sensitive paroxysmal activities. Patients who mainly had nocturnal seizures were found to have more frequent generalized seizures and a greater sleep-sensitive paroxysmal activity. Three cases demonstrated continuous spike-waves during sleep. The patients who had little or no paroxysmal activity during sleep were the youngest. This study illustrates that sleep-sensitive seizures and paroxysmal activities are not specific to benign childhood epilepsy with centro-temporal spikes, and that seizures and paroxysmal activities are two manifestations associated with epilepsy, affected in different ways by states of vigilance.

Adolescent↗
PubMed1990

Are frequent spike-waves during non-REM sleep in relation with an acquired neuro-psychological deficit in epileptic children?

In a population of 11 children with frequent spike waves during non REM sleep who had no neurological symptoms between birth and their first symptom, 3 groups were compared according to their neuropsychological performances. In the first group, the children had no intellectual deficit, in the second group, they had an acquired aphasia as in the Landau-Kleffner syndrome and in the third they had severe behavioural disorder and mental deterioration. The non REM sleep paroxysmic activity density tended to be highest in the third group, variable in the second group and moderate in the first group, and their topography was always generalized in the acute phase in groups II and III but asymmetrical in group I. The EEG anomalies disappeared during adolescence but in group II and III children a moderate to severe delay in school work persisted.

Aphasia↗
PubMed1989

Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases.

Calcifications of the basal ganglia are described under the heading of "Fahr's syndrome". The clinical pattern is variable and the syndrome may be sporadic or familial. This study describes a personal series of 14 cases of encephalopathy with calcification of the basal ganglia and reviews the literature cases. A four-group classification is proposed. The first group includes encephalopathy, microcephaly, dwarfism, retinal degeneration or optic atrophy, symmetrical patchy demyelination with calcifications and probable autosomal recessive inheritance. Some cases have an early onset, a rapid evolution. Others have a later onset, longer course and retinal degeneration. In the second group, the children suffer from a congenital encephalopathy or a cerebral palsy without clear deterioration, without short stature, ocular impairment or persistent CSF abnormalities. This group has not been reported in the literature. The cases do not seem to be genetic. The precise cause in unknown but a sporadic non progressive anoxo-ischemic, or viral prenatal disease is suggested. In the third group, the association of encephalopathy, microcephaly, and persistent CSF lymphocytosis, has a high recurrence rate. The pathogenesis is still a matter of dispute. The fourth group is characterized by autosomal dominant calcifications of the basal ganglia with or without neurological abnormalities. Finally calcium metabolism disorders and mitochondrial encephalomyopathy may be associated with calcifications of the basal ganglia.

Basal Ganglia Diseases↗
PubMed1989

[Early resection of the orbital band in coronal craniostenosis].

The authors report a case history of bilateral coronal synostosis in Apert's syndrome, treated by fronto-orbital band resection and linear craniectomy of the pathologic sutures. The authors emphasize the rapidity of this procedure, its safety for fragile children and its immediate results.

Acrocephalosyndactylia↗
PubMed1989

[Subdural hematoma in infants. Indications and results of external subdural derivation].

20 infants presenting with a chronic subdural hematoma (S.D.H.) including 15 boys and 5 girls from 1.5 to 16 months (mean age 6.3 months) were treated by tapping (1 case) or irrigation through burr-holes (2 cases) or external drainage (17 cases). The drainage was performed on both sides when the S.D.H. was bilateral (13 cases). Results were analyzed clinically and by C.T. scan. No sequela was noted in 10 cases while in 10 others persisted some neurological (5 cases) or psychomotor (4 cases) impairment or an epileptic status (1 case). In all but one case, the S.D.H. disappeared completely on C.T. scan controls. Therefore, in case of acute S.D.H., we consider that simple therapeutic methods, if early realized, are generally sufficient.

Drainage↗
PubMed1987

Relapse of herpes simplex encephalitis.

This report describes a child with herpes simplex virus (HSV) encephalitis who improved dramatically while being treated with acyclovir but subsequently had neurological deterioration and died. A severe necrotizing process was present in the brain at autopsy but there were no focal areas of demyelination and poor inflammatory response. HSV was not cultured from brain biopsy during relapse or autopsy. Fourteen previous cases of relapsing herpes encephalitis are reviewed and treatment regime and mechanisms of relapse are discussed.

Acyclovir↗
PubMed1987

[Cardiac and cerebral involvement in aneurysms of the ampulla of Galen. Contribution of echography and cerebral Doppler flowmeter in the neonatal period].

An arteriovenous malformation of the vein of Galen was diagnosed using two-dimensional ultrasound and pulsed Doppler method, in a neonate with congestive heart failure. Contrast echocardiography showed right to left atrial and ductal shunting. Sector scans of the brain revealed an echo free intracranial mass with venous flow at the Doppler. Doppler assessment of the main cerebral arteries was also performed. In neonates presenting with severe congestive heart failure of unknown etiology, two-dimensional ultrasonography provides an accurate and rapid diagnosis of a cerebral arteriovenous malformation with aneurysm of the vein of Galen. Ultrasound method may also contribute to improve the comprehension of the physiopathology underlying the clinical findings.

Cerebral Veins↗
PubMed1987

[Ultrasonic diagnosis and follow-up of aneurysms of the ampulla of Galen in infants].

An aneurysm of the vein of Galen can have a varied sonographic appearance in infancy. The classical picture is a spherical posterior third ventricular mass with no internal echoes. With varying degrees of thrombosis of the aneurysm which may occur spontaneously or after surgery, the mass became hyper-echogenic. Our experience in two patients with this spectrum of echographic findings will be demonstrated and correlated with clinical findings CT scan, and angiography.

Cerebral Angiography↗
PubMed1987

[What future is there for hydrocephalus children? Intellectual and visual neurological prognosis in series of 77 cases of non-tumor hydrocephalus].

We report the neurological, intellectual and visual outcome of 77 children with hydrocephalus of non tumoral origin. Neurological deficits and epilepsy were common, particularly in those with severe intellectual deficit and with acquired brain damages. Intellectual level prognosis was usually good, although lower than in a healthy population: 75% of children had full intellectual quotient (FIQ) higher than 70 but often, there was an heterogeneous pattern of the IQ with greater differences between verbal and performance results because of poor visual-spatial skills. Attention and syntax comprehension of language disabilities were also specifically encountered. Meningitis or toxoplasmosis secondary to hydrocephalus often resulted in a poor intelligence level but other causes did not influence intelligence level or pattern. Visual-spatial deficits, attention disorders and language disabilities did not seem related to the degree of hydrocephalus or the delay before shunting, but were especially encountered when ventricular dilatation persisted in spite of the operation. Functional amblyopias were frequent, certainly related to strabismus. Optic atrophy was rare and linked to direct compression of the optic nerves or to major and repeated episodes of intracranial hypertension.

Child↗