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Biomedical subjects

J M Pinard

Publications and source records attributed to J M Pinard.

At least 19 recordsLinked to original sources
PubMed2002

So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation.

We report the case of a female suffering from resistant partial seizures, which were related to 'cryptogenic' epilepsy, as the cerebral cortex was considered normal on the initial MRI images. As her son is mentally retarded and has a pachygyria, the doublecortin gene, usually involved in band heterotopia or lissencephaly, was screened for mutations. A missense mutation was identified, shared by both the son and his mother, and a subtle discontinuous subcortical heterotopia was subsequently detected on the mother's MRI. The pathophysiology of epilepsy in this woman is discussed in the light of the role of doublecortin, not only in neuronal migration, but also in axonal growth and dendritic connectivity.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed2001

Sleep disorders caused by brainstem tumor: case report.

Few studies concerning sleep disorders in brainstem lesions or tumors have been published. We report the case of a girl who was operated on for a brainstem tumor at the age of 4 years. In postsurgery, she had hemiparesis of the left side, swallowing difficulties, and severe apneas requiring a tracheotomy with nocturnal ventilation. The child's health improved progressively. Two sleep recordings were performed at 7 and 9 years without nocturnal ventilation. These recordings showed sleep disorders with a decrease in total sleep time and rapid eye movement (REM) sleep. Several central apneas were observed. The apneas were more frequent during REM sleep in the first recording and were associated with desaturation and microarousals.

Brain Stem Neoplasms↗
PubMed2000

Hot water epilepsy: a benign and unrecognized form.

Hot water epilepsy is a reflex epilepsy. Seizures are provoked by hot water, and result from the association of both cutaneous and heat stimuli. Described mainly in India and Japan, the condition seems to be rare in Europe, where it occurs in young children. We report five infants aged from 6 months to 2 years. They had brief seizures during bathing with activity arrest, hypotonia, and vasoactive modification; clonic movements were observed. A simple treatment-decreasing the bath temperature-can be sufficient. Sometimes an antiepileptic drug is required. Seizure course and psychomotor development are favorable. Hot water epilepsy is a benign form of epilepsy. Its incidence could be underestimated because of confusion with febrile convulsions, vagal fits, or aquagenic urticaria.

Electroencephalography↗
PubMed1999

[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin].

UNLABELLED: Succinate dehydrogenase (SDH) deficiency is rare. Clinical manifestations can appear in infancy with a marked impairment of psychomotor development with pyramidal signs and extrapyramidal rigidity. CASE REPORT: A 10-month-old boy developed severe neurological features, evoking a Leigh syndrome; magnetic resonance imaging showed features of leukodystrophy. A deficiency in the complex II respiratory chain (succinate dehydrogenase [SDH]) was shown. The course was remarkable by the regression of neurological impairment under treatment by riboflavin. The delay of psychomotor development, mainly involving language, was moderate at the age of 5 years. CONCLUSION: The relatively good prognosis of this patient, despite severe initial neurological impairment, may be due to the partial enzyme deficiency and/or riboflavin administration.

Basal Ganglia Diseases↗
PubMed1999

[Hot water epilepsy: a benign and underestimated form].

BACKGROUND: Hot water epilepsy belongs to the group of reflex epilepsies. Seizures are provoked by hot water, due to the association of both cutaneous and heat stimuli. Described mainly in India and Japan, it seems to be rare in Europe where it occurs in young children. CASE REPORTS: Five infants aged between 6 months to 2 years had seizures during bathing with activity arrest, hypotonia and vasoactive modification. Sometimes clonic movements could be observed. The diagnosis was confirmed by EEG recorded during bath in the fives cases, with video for two of them. The course of the seizures and of the psychomotor development were favorable. CONCLUSION: Hot water epilepsy is a benign epilepsy. Its incidence could be underestimated because seizures can be confused with febrile convulsions or vagal fits.

Baths↗
PubMed1999

Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis.

MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their mother are presented. On MR imaging a different degree of SCLH was found in all three affected family-members. The inversion recovery sequence was considered most useful in the demonstration of the heterotopic band of gray matter and the assessment of cortical thickness. The younger sister presented with epileptic seizures at the age of five months and a delayed achievement of developmental milestones. The older sister of seven years had epileptic seizures since the age of one year, and developmental delay. Their mother has only had one seizure-like episode at the age of 39. Her psychomotor development had been normal. Investigation of DNA samples of the three female family-members revealed a mutation in the X-linked doublecortin gene. Within families with band heterotopia, this gene has also been related to male family members with lissencephaly.

Adult↗
PubMed1999

Callosotomy for epilepsy after West syndrome.

PURPOSE: To analyze the results of callosotomy in 17 children with symptomatic generalized epilepsy after West syndrome, according to the different seizure types and surgical procedures, to define selection criteria for candidates to callosotomy. METHODS: Callosotomy was performed in two successive stages. Partial callosotomy, anterior in 13 and posterior in three, was followed by completion in 14 cases in all but four patients (complete callosotomy in one stage in one, no completion in three). All patients had clinical, video-EEG, and neuropsychological evaluation before and after each stage of callosotomy, with a mean final follow-up of 4 years. RESULTS: Seizure frequency improved in only two of 13 patients after anterior callosotomy, in none of three after posterior callosotomy, but in nine of 14 after complete callosotomy. After complete callosotomy, spasms disappeared in 80% of the cases, and drop attacks, the most severe ictal event, completely stopped or were dramatically reduced in 90% of the children. One patient no longer had episodes of status epilepticus, and another one acquired the ability to walk after complete callosotomy. From the cognitive viewpoint, nine patients with improved seizure frequency after complete callosotomy also had improved behavior and cognitive functions, but two others experienced speech deterioration after posterior callosotomy at age 11 years and completion of callosotomy at age 16 years. CONCLUSIONS: As in other severe generalized epilepsies in childhood, drop attacks provide the best indication for complete callosotomy in patients with previous West syndrome. Because drop attacks can be identifiable by falls only, the previous acquisition of walking should be considered as a key feature for any benefit to be obtained.

Child↗
PubMed1998

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.

X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion.

Adolescent↗
PubMed1998

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical manifestations are epilepsy and mental retardation. This disorder, which mainly affects females, can be inherited in a single pedigree with lissencephaly, a more severe disease which affects the male individuals. This clinical entity has been described as X-SCLH/LIS syndrome. Recently we have demonstrated that the doublecortin gene, which is localized on the X chromosome, is implicated in this disorder. We have now performed a systematic mutation analysis of doublecortin in 11 unrelated females with SCLH (one familial and 10 sporadic cases) and have identified mutations in 10/11 cases. The sequence differences include nonsense, splice site and missense mutations and these were found throughout the gene. These results provide strong evidence that loss of function of doublecortin is the major cause of SCLH. The absence of phenotype-genotype correlations suggests that X-inactivation patterns of neuronal precursor cells are likely to contribute to the variable clinical severity of this disorder in females.

Abnormalities, Multiple↗
PubMed1998

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.

PURPOSE: To evaluate the brain magnetic resonance (MR) imaging findings in patients with the "classic" form of congenital muscular dystrophy (patients with normal intelligence) in relation to the absence of merosin, a recently identified molecular component in the basement membrane of muscle fiber. MATERIALS AND METHODS: Brain MR images in 15 patients (13 children, two adults) were reviewed and correlated with the patient's merosin status. Merosin was evaluated by means of immunocytochemical study of specimens from muscle biopsy. RESULTS: Nine patients had merosin deficiency. All patients had diffuse white matter alterations similar to those seen in cases of leukodystrophy. Periventricular and subcortical white matter were involved. The corpus callosum and internal capsule were spared. Follow-up MR images were available in two patients; changes were nonprogressive. White matter signal intensity was normal in the six patients with normal uniform labeling against merosin. Ventricular dilatation and cortical atrophy were observed in both groups. CONCLUSION: Diffuse white matter changes resembling those seen with leukodystrophy may be a valuable criterion for diagnosis of merosin deficiency in patients with classic congenital muscular dystrophy.

Adult↗
PubMed1998

[Surgery and epilepsy].

Corpus callosotmy was introduced in 1940 as a palliative treatment for generalized epilepsies. The improvement of the surgical technique, and the simplification of the initial "total commissurotomy" made that procedure proposed in order to decrease the frequency and the severity of the seizures occurring in the secondary geralzed epilepsies. However the indication criteria remain unclear, due to the difficulty for analysing the results and the feterogenity of the series. A careful selection requiring a comprehensive epilepsy team remains mandatory despite the relative simplicity of the procedure.

Brain Diseases↗
PubMed1997

[Idiopathic peri-cerebral enlargement in infants: simple anatomical variant or hemorrhagic risk factor?].

BACKGROUND: Idiopathic subarachnoid space enlargement (ISSE) is usually regarded as a benign lesion. CASE REPORTS: Two infants, 6 and 8 months old respectively, were hospitalized for neurological disorders revealing subdural hematoma. The first one was drowsy after an apparent life threatening event. The CT scan showed a recent subdural hematoma with ISSE. The outcome was spontaneously uneventful. The second patient presented a febrile hemiconvulsion preceding a status epilepticus. The diagnosis of empyema complicating subdural hematoma with ISSE was done on MRI. Recovery occurred after a 3 week course of parenteral antibiotics and 1 year of antiepileptic treatment. In these two cases, there was no history of head injury and the retrospective study of cranial perimeter growth curves showed acceleration before the acute event. CONCLUSION: The reputation of benignity is not usurped regarding the ISSE. Nevertheless, it must be recognized as a factor furthering emergence of subdural hematoma, even in absence of injury context.

Female↗
PubMed1997

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males, and subcortical laminar heterotopia (SCLH) associated with milder mental retardation and epilepsy in heterozygous females. Here we report an exclusion mapping study carried out in three unrelated previously described families in which males are affected with lissencephaly and females with SCLH, using 38 microsatellite markers evenly distributed on the X chromosome. Most of the X chromosome was excluded and potential intervals of assignment in Xq22.3-q23 or in Xq27 are reported. Although the number of informative meioses did not allow a decision between these two loci, it is worth noting that the former interval is compatible with the mapping of a breakpoint involved in a de novo X;autosomal balanced translocation 46,XX,t(X;2)(q22;p25) previously described in a female with classical lissencephaly. In addition, haplotype inheritance in two families showed a grandpaternal origin of the mutation and suggested in one family the presence of mosaicism in germline cells of normal transmitting males.

Adult↗
PubMed1996

[Problems related to neurosurgical treatment of epilepsy in children].

Neurosurgery of epilepsy in children has undergone rapid development during the past decade. This was justified by the high incidence of intractable epilepsy and its consequences on cognitive development. Any decision in the area of surgery must take in account specific etiology and the rapid maturation of the infant's brain. As in adulthood, both the epileptogenic and the functional zones must be identified, but this is a challenge when the brain is not mature and the functions not yet developed. In addition, the ability to recover must be determined. At the present time no precise methodology can be advised for presurgical work-up and surgical indications.

Age Factors↗