[Diagnostic trap and difficulties of genetic counseling in a family with neuromuscular disease carriers]. / Piège diagnostique et difficultés du conseil génétique dans une famille de patients porteurs de maladies neuromusculaires.

BACKGROUND: Recent advances in the field of molecular genetics have provided useful tools for the diagnosis of neuromuscular disorders. Genetic counselling for many of these conditions may, however, be fraught with difficulties. CASE REPORT: The patient, two paternal uncles and a paternal aunt presented with clinical and electromyographic evidence of type III spinal muscular atrophy despite an autosomal dominant-like pedigree. The diagnosis was confirmed by genetic testing for the SMN deletion. As the proband's mother was pregnant at the time of presentation of the affected child, a prenatal diagnostic test was performed. The deletion was not found in the DNA extracted from the trophoblast and the pregnancy proceeded to full term, and a normal child. At the same time, a first cousin of the proband was found to have a clinically similar condition. He had not the SMN deletion. He presented with electrophysiological and pathological features of limb-girdle muscular dystrophy. Genetic testing revealed a homozygote del T521 mutation of the gama-sarcoglycan gene. CONCLUSION: To provide accurate genetic counselling, it is essential to get precise data on family background and diagnostic confirmation for each affected relative to avoid missing the possibility, albeit rare, of several neuromuscular disorders within a family.

[Epilepsy presenting as life-threatening events in infants]. / Les malaises du nourrisson d'origine épileptique.

OBJECTIVE: This study was aimed at assessing the frequency and features of epilepsy presenting as life-threatening events in infancy. PATIENTS AND METHODS: Fifteen cases were collected over eight years. Subtle symptoms suggestive of epilepsy were rare (9/15) in the retrospective analysis; the clinical context and cerebral imaging were occasionally contributive (5/15); interictal EEG was useful but inconstantly contributive, including when the epileptic nature of the episodes had become clinically probable (10/15). Though it had no clear relationships with epileptic episodes but contributed to mislead diagnosis, gastroesophageal reflux was frequently associated. Uncovered epilepsies were not homogeneous, ranging from severe epileptic encephalopathy to benign epilepsy of infancy. CONCLUSION: Epilepsy presenting as life-threatening events is sometimes a diagnostic challenge. When an infant develops recurrent critical episodes during a several-week follow-up, with neurological and general investigations not providing more information, the immediate success of antiepileptic treatment might support diagnosis.

[Foix-Chavany-Marie syndrome in a child caused by a head trauma]. / Syndrome de Foix-Chavany-Marie d'origine traumatique chez l'enfant.

We report the case of a traumatic Foix-Chavany-Marie syndrome (SFMC) which is the cortico-subcortical type of suprabulbar palsy. A 10-year-old boy was brain injured in a traffic accident in August 1996. He was found comatous (initial GCS = 6) without any focal neurological deficit. The hemodynamic situation was stable even though he presented two wounds of the scalp and a hemoperitoneum that required intensive perfusions. The initial CT scan elicited a frontal fracture, ischemo hemorrhagic lesions of the right frontopolar and anterior temporal cortex. On the second day, he developed on the left side a subdural collection and a extradural hematoma which was surgically withdrawn. The comatous state ended on the ninth day. On examination, The child was awake and alert, able to understand spoken and written language but unable to speak. There was masticatory diplegia: the mouth was half open, the patient was drooling, chewing was impossible. The most striking feature was the automatic voluntary dissociation which might be observed on laughing, crying and yawning. The patient was unable to initiate swallowing but reflex swallowing was preserved once food was placed into the pharynx. The child had a deficit of voluntary control of muscles supplied by nerves V, VI, IX, X, XI. These clinical features are the hallmarks of SFMC. The first case was reported in 1837 by Magnus. The syndrome was described by Foix Chavany et Marie in 1926, and called SFMC by Weller (1993). His literature review of 62 SFMC allowed the differentiation of five clinical types: the classical and most common form associated with cerebrovascular disease, a subacute form caused by central nervous system infections, a developmental form, a reversible form in children with epilepsy and a rare type associated with neurodegenerative disorders. Bilateral opercular lesions was confirmed in 31 of 41 patients who had CT or MRI performed, and by necropsy in 7 of 10 patients. As previously reported, the outcome was poor for this boy who recovered very limited orofacial motor abilities. The medical functional readaptation was long et tedious and took in consideration the fact that the speech disturbance was anarthria and not an aphasic or an apraxic one and the age of onset of this acute acquired syndrome.

Congenital unilateral perisylvian syndrome: radiological basis and clinical correlations.

DESIGN: Advances in neuroimaging have allowed correlations between radiological patterns and clinical features of brain malformations. This paper reports clinical, prognosis, and electroencephalographic features of six children with a previously unrecognised neuroimaging picture of unilateral widening and verticalisation of the sylvian fossa associated with an abnormal ipsilateral perisylvian cortex. RESULTS: All children had reduced hemisphere size and thalamostriatal hypoplasia ipsilateral to the cleft and hemiplegia. Cognitive development was mostly impaired. Epilepsy occurred in two patients and was mainly characterised by partial seizures. Studies with EEG showed hemispheric slowing of background activity homolateral to the perisylvian dysplasia. Occurrence of the malformation among their siblings was not found. CONCLUSION: Similar brain malformations occasionally reported in older patients confirm the clinical picture, sporadic occurrence, and prognosis found, allowing the validation of a unilateral perisylvian syndrome.

Neurotransmitter receptors in adult tottering (tg/tg) mice.

Neurotransmitter receptor binding was analyzed in adult tottering (tg/tg) and control wild-type mice. Saturation studies were performed to analyze the density of muscarinic cholinergic receptors in whole brain, cortical, and hippocampal homogenates of 8-9-week-old animals. Scatchard plot analysis was also performed to determine the density and affinity of alpha-adrenergic and beta-adrenergic receptors. No significant difference in Bmax or Kd values was identified between adult tottering and control mice in any of the tissue preparations. The amount of radioligand binding to 5-hydroxytryptamine 1A (5-HT1A), non-5-HT1A, 5-HT2, dopamine D2, and benzodiazepine receptors was also identical in tottering and control mice. These findings suggest that the epilepsy expressed by adult tottering mice does not result from alterations in the density or affinity of the neurotransmitter receptors studied.

Short- and long-term prognostic value of the electroencephalogram in children with severe head injury.

To determine the prognostic value of the EEG in severely head-injured children, 24 patients were studied for 8-36 months. During coma, 4 EEG patterns were found: borderline, sleep-like, changeable and slow monotonous (SM). For the short-term prognosis, we conclude that the SM pattern (12/24 patients) indicates a bad prognosis because it was associated with a longer coma and awakening period than that of other EEG patterns and because it was observed in the 3 patients who died from brain injury. In contrast, we describe a 'prewake' pattern (11/22 survivors) which, when it occurs, always announces the onset of a complete awakening. For the long-term prognosis, only 50% of the survivors who had an SM pattern during coma have as good an intellectual and motor outcome as the survivors who displayed other EEG patterns. No other EEG features recorded during coma have short- or long-term prognostic significance.

Ischemic strokes in children.

Of 44 infants and children (neonates excluded) with ischemic strokes of arterial origin documented by CT scan and/or cerebral angiography, idiopathic strokes, occurring in 22 cases, accounted for half the total. Eight of these patients had basal ganglia and/or capsular infarcts without cortical involvement. The outcome in the idiopathic group was favorable: after an average follow-up duration of 48 months, no child had recurrence, two children developed secondary epilepsy, and only two were severely mentally retarded. However, residual dystonia and dyskinesia constituted an incapacitating handicap, having been observed in 14 children of the idiopathic group and in 18 of the whole series. It may be concluded from the present study that the long-term prognosis of ischemic strokes in children is excellent except for the risk of secondary evolutive dystonia in the absence of any detectable cause.

Congenital toxoplasmosis. Clinical and neuroradiological evaluation of the cerebral lesions.

A study of 31 observations of congenital toxoplasmosis shows that there is a clear relationship between the cerebral lesions as observed on CT scan, neurological symptoms, and the date of maternal infection. The appearance of the CT scan is characteristic of cases with early maternal seroconversion (before the 20th week of pregnancy), of cases with maternal infection between the 20 and 30th week of pregnancy, and of cases with late maternal seroconversion (after the 30th week of pregnancy). Preventive maternal treatment does not change the pattern of the cerebral lesions observed on CT scan and thus proves ineffective in conferring real protection.

A rapid method for lecithin:cholesterol acyltransferase estimation in human serum.

All the described procedures for lecithin:cholesterol acyltransferase (LCAT) determination in the plasma have raised criticisms: Lack of sensitivity for methods using colorimetric determination of unesterified cholesterol or phosphatidyl-choline in plasma before and after incubation at 37 degrees C. Incomplete isotopic equilibrium of the free cholesterol substrate between the different lipoproteins in radioassay procedures. Gas-liquid chromatography methods cannot be used when LCAT activity is low. A new method, easier, more sensitive and accurate has been developed in our laboratory:plasma samples are delipoproteinized by coprecipitation with Intralipid, dextran sulphate, and calcium chloride. Cholesterol esterification is assayed by a short incubation (30 min) of 100 microliter delipoproteinized plasma and a 30 microliter of 3H-cholesterol-labelled substrate. About 15% of cholesterol is esterified in these conditions in 30 min (35 +/- 7 micromole/h/l). The LCAT reaction is linear for about one hour.