Search PubMed⌕ Search

Biomedical subjects

F Brunelle

Publications and source records attributed to F Brunelle.

At least 19 recordsLinked to original sources
PubMed2001

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.

The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypoplasia on temporal bone CT-scan. We report on semicircular canal agenesis/hypoplasia in three patients with three to four features of the CHARGE syndrome and neither coloboma nor choanal atresia and we propose to include temporal bone malformations as a major criteria for diagnosis of CHARGE syndrome.

Abnormalities, Multiple↗
PubMed2001

Prenatal thoracoabdominal tumor mimicking pulmonary sequestration: a diagnosis dilemma.

Thoracoabdominal masses are among the many congenital anomalies being detected in fetus. The differential diagnosis of such anomalies include cystic adenomatoid malformation, pulmonary sequestration, neuroblastoma, lymphangioma, congenital diaphragmatic hernia, and bronchial atresia. We report a fetal thoracoabdominal mass that proved to be an angioma that was treated by partial embolization. Complete regression was observed.

Abdominal Neoplasms↗
PubMed2001

Functional imaging in the work-up of childhood epilepsy.

In children with medically intractable lesional epilepsy, surgery is deemed successful if the epileptogenic focus can be removed while major neurological functions are spared. Current techniques rely on invasive intracranial recordings. The new developments in functional imaging offer the possibility of localizing the epileptogenic focus noninvasively (PET/SPECT) and mapping cognitive functions (fMRI). Ictal SPECT shows hyperperfusion in the focus and has proved to have better localizing value than interictal PET or SPECT, which show focal hypometabolism or hypoperfusion. Ictal SPECT is useful for deciding on the placement of intracranial electrodes in extratemporal epilepsies, particularly in young children. Functional MRI has proved highly accurate for localizing motor and language networks, thus offering the possibilities of replacing the Wada test (language hemispheric lateralization) and studying postlesional brain plasticity. Despite the difficulties of functional imaging in children owing to the limited cooperation that can be expected, ethical constraints, and poor normative data, SPECT/PET and fMRI provide clinically useful information for presurgical work-up of childhood epilepsies.

Adolescent↗
PubMed2001

Obstruction of Magendie's and Luschka's foramina. Cine-MRI, aetiology and pathogenesis.

BACKGROUND: Obstruction of the foramina of Magendie and Luschka represents one possible aetiology for a progressive tetra-ventricular hydrocephalus. METHOD: Our case report is a 58-year-old woman initially presenting with a pseudo-vertebrobasilar insufficiency clinical syndrome. A ventriculo-cisternostomy of the third ventricle was performed by an endoscopic procedure with a clinical and radiological success (three year follow-up). FINDINGS: Comparative studies of cerebrospinal fluid (CSF) flow measurements by cine magnetic resonance imaging (cine-MRI) showed that Magendie's and Luschka's foramina permeabilities were restored after the ventriculo-cisternostomy. INRTERPRETATION: This case shows that endoscopic ventriculo-cisternostomy of the third ventricle can provide an effective treatment for specific tetra-ventricular hydrocephalus. Cine-MRI findings open the discussion on possible aetiologies and pathophysiologies.

Brain Diseases↗
PubMed2001

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

Congenital hyperinsulinism (CHI), previously named persistent hyperinsulinemic hypoglycemia of infancy, is characterized by profound hypoglycemia because of excessive insulin secretion. CHI presents as two different morphological forms: a diffuse form with functional abnormality of islets throughout the pancreas and a focal form with focal islet cell adenomatous hyperplasia, which can be cured by partial pancreatectomy. Recently, we have shown that focal adenomatous hyperplasia involves the specific loss of the maternal 11p15 region and a constitutional mutation of a paternally inherited allele of the gene encoding the regulating subunit of the K(+)(ATP) channel, the sulfonylurea receptor (ABCC8 or SUR1). In the present study on a large series of 31 patients, describing both morphological features and molecular data, we report that 61% of cases (19 out of 31) carried a paternally inherited mutation not only in the ABCC8 gene as previously described but also in the second gene encoding the K(+)(ATP) channel, the inward rectifying potassium channel (KCNJ11 or KIR6.2), in 15 cases and 4 cases, respectively. Moreover our results are consistent with the presence of a duplicated paternal 11p15 allele probably because of mitotic recombination or reduplication of the paternal chromosome after somatic loss of the maternal chromosome. In agreement with the loss of the maternal chromosome, the level of expression of a maternally expressed tumor suppressor gene, H19, was greatly reduced compared to the level of expression of the paternally expressed growth promoter gene, IGF2. The expression of IGF2 was on average only moderately increased. Thus, focal forms of CHI can be considered to be a recessive somatic disease, associating an imbalance in the expression of imprinted genes in the 11p15.5 region to a somatic reduction to homozygosity of an ABCC8- or KCNJ11-recessive mutation. The former is responsible for the abnormal growth rate, as in embryonic tumors, whereas the latter leads to unregulated secretion of insulin.

ATP-Binding Cassette Transporters↗
PubMed2001

[Pulmonary embolism in sclerotherapy for a venous malformation in a child under general anesthesia].

We report a case of pulmonary embolism associated with percutaneous sclerotherapy (absolute ethanol: 0.5 mL.kg-1) of a venous angioma, performed under general anaesthesia in a 13 year-old child. The diagnosis of pulmonary embolism, suspected on the clinical setting and symptoms, was supported by the pulmonary scintigraphy obtained 4 hours later, showing 3 minimal pulmonary defects. The outcome was rapidly favourable without sequelae under heparin administration and the pulmonary scintigraphy, performed on day 7, was normal. The role of absolute ethanol, for explaining the apparent contrast between the severity of the symptoms and the minimal obstruction noted on pulmonary scintigraphy is discussed. Also discussed are the prophylactic and curative therapeutic issues of this severe complication.

Anesthesia, General↗
PubMed2001

Fetal lung volume: estimation at MR imaging-initial results.

PURPOSE: To plot normal fetal lung volume (FLV) obtained with fast spin-echo magnetic resonance (MR) images against gestational age; to investigate the correlation between lung growth and fetal presentation, sex, and ultrasonographic (US) biometric measurements; and to investigate its potential application in fetuses with thoracoabdominal malformations. MATERIALS AND METHODS: In a prospective multicenter study, 336 fetuses suspected of having central nervous system disorders underwent fast spin-echo T2-weighted lung MR imaging. Data obtained at 21-38 weeks gestation in 215 fetuses without thoracoabdominal malformations and with normal US biometric findings were selected for an FLV normative curve. FLV measurements obtained at pathologic examination with an immersion method were compared with MR FLV measurements in 11 fetuses. MR FLV values in 16 fetuses with thoracoabdominal malformations were compared with the normative curve. RESULTS: Normal FLV increased with gestational age as a power curve; the spread of values increased with age. Interobserver correlation was excellent (R(2) = 0.96). FLV measurements at MR imaging were 0.90 times those at pathologic examination. A constant ratio (0.78) between FLV on the left and right sides was observed. No significant difference in FLV was observed between fetal presentations. Normal FLV was observed in all fetuses with cystic adenomatoid malformations and in four of six with oligohydramnios. Lowest FLV values were observed in fetuses with diaphragmatic hernia. CONCLUSION: In fetuses with normal lungs, FLV distribution against gestational age is easily assessed in utero with fast spin-echo T2-weighted MR imaging. These preliminary findings illustrate the potential for comparing FLV measurements in fetuses at risk of lung hypoplasia with normative values.

Abnormalities, Multiple↗
PubMed2001

Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases.

BACKGROUND AND PURPOSE: Pericallosal lipomas are rare tumors. Few reports have included their imaging characteristics. Furthermore, little is known about their evolutive course. Our purpose was to describe the imaging features of seven cases of pericallosal lipoma diagnosed in utero and followed up after birth. METHODS: We reviewed seven cases of pericallosal lipoma diagnosed by obstetric sonography (n = 7) and examined by fetal MR imaging (n = 5). Analysis of the complementary findings provided by fetal MR imaging was conducted. All findings were correlated with the postnatal imaging and clinical findings. RESULTS: Obstetric sonography easily showed the pericallosal lipoma in all seven patients. In one, however, it was misinterpreted as intracranial hemorrhage. The morphology and integrity of the underlying corpus callosum were less easy to assess by using sonography. Fetal MR imaging confirmed the fatty content and location of the lesion in all five cases. It showed the choroidal extension in two patients and the type of associated callosal anomaly in another patient better than did sonography. In two patients, the lipoma grew, as revealed by subsequent postnatal MR imaging. The results of the neurologic examinations remained normal for the five surviving patients at a mean follow-up of 3 years (1 month-9 years). CONCLUSION: Obstetric sonography is able to easily show pericallosal lipoma. Fetal MR imaging may be useful to characterize the lipomatous nature and the extension of the lipoma and the status of the corpus callosum. Long-term follow-up is necessary to understand the clinical consequences of such lesions.

Agenesis of Corpus Callosum↗
PubMed2001

[Prenatal semiology of diastematomyelia].

Diastematomyelia is a rare spinal malformation characterized by a division of the spinal cord. More often, the two hemicords are separated by a midline and sagittal osseous or fibrocartilaginous spur. In this report we describe two cases of diastematomyelia detected at routine second trimester detailed sonography and further assessed by MRI and spiral CT with surface shaded 3D-reconstructions. In addition to providing diagnosis, prenatal evaluation helps differentiate between diastematomyelia with good or bad prognosis.

Adult↗
PubMed2000

Emergency management of deeply comatose children with acute rupture of cerebral arteriovenous malformations.

PURPOSE: To assess the impact of emergency management on mortality and morbidity of acute rupture of cerebral arteriovenous malformations resulting in deep coma in children, and the factors predicting outcome. METHODS: Retrospective chart review of 20 children with a Glasgow Coma Scale < or = 8 with acute hemorrhagic stroke from a cerebral arteriovenous malformation rupture was conducted. Protocol included: early resuscitation with tracheal intubation and ventilation after induction of anesthesia with sufentanil, and benzodiazepine, and mannitol 20% or hypertonic saline 7.5% infusion for life-threatening brain herniation. Radiological exploration was limited to contrast-enhanced CT scan preceding immediate surgical decompression. Postoperatively, children were deeply sedated and intracranial pressure monitoring allowed titration with osmotherapy, vasopressors, hyperventilation or barbiturate coma to control cerebral perfusion pressure. Analysis used stratification of the type of hemorrhage (supra or infra tentorial), location (intraparenchymal and subarachnoid, intraparenchymal and intraventricular or intraventricular alone) and relationship between presentation, evolution with resuscitation, type of cerebral lesion, and outcome. RESULTS: Patients had a severe initial presentation (median Glasgow Coma Scale five), eight had unilateral and eight bilateral third nerve palsy. Compressive hematoma in supratentorial localisation represented 75% of the cases. Global mortality was 40%. Persistence of mydriasis after resuscitation increased mortality to 75%. Massive intraventricular flooding was associated with increased mortality. Good functional outcome was achieved in survivors. CONCLUSION: Acute rupture of an AVM can result in rapidly progressing coma. Emergency management with early resuscitation, minimal radiological exploration before rapid surgical decompression results in a mortality rate of 40%, but a good functional outcome can be expected in the survivors.

Acute Disease↗
PubMed2000

Intracranial venous anomalies associated with atretic cephalocoeles.

BACKGROUND: Midline scalp lesions are frequent in children. They include soft-tissue masses and atretic meningocoeles. Their recognition is important as their treatment differs. Intracranial venous anomalies are known to be associated with atretic cephalocoeles. MATERIALS AND METHODS: A retrospective study was undertaken to assess the frequency of intracranial venous anomalies associated with atretic meningocoeles (AT). Thirty-one patients with AT were studied by MRI. There were 13 meningocoeles and 14 encephalocoeles; 4 have not yet received surgery. RESULTS: Venous anomalies were found when the cephalocoeles lay above the torcular. They include absence of the straight sinus and duplication of the longitudinal sinus. CONCLUSION: Venous anomalies are frequent in atretic cephalocoeles and are part of the dysraphic state.

Arteriovenous Malformations↗
PubMed2000

Role of embolisation in the treatment of bronchopulmonary sequestration.

BACKGROUND: Sequestrations represent bronchopulmonary malformations that are increasingly diagnosed antenatally. After birth, the therapeutic approach in asymptomatic children is debated, as some may spontaneously regress. OBJECTIVE: To evaluate the efficacy of embolisation of the feeding systemic artery in the treatment of bronchopulmonary sequestration. MATERIALS AND METHODS: Sixteen children with bronchopulmonary sequestration were treated by endovascular embolisation of the feeding systemic artery. RESULTS: Ten patients were considered cured by embolisation alone. One patient was operated on after unsuccessful embolisation, three had partial regression of the lung mass and two are still under follow-up. CONCLUSIONS: Our experience indicates that bronchopulmonary sequestrations in children can be treated by embolisation alone.

Angiography↗
PubMed2000

Noninvasive diagnosis of brain tumours in children.

The author reviews the progress made during the last 25 years in noninvasive diagnosis of brain tumours in children. MRI has replaced all other modalities available at that time. The diagnosis is still based on a precise anatomical analysis of the lesion rather than on other specific findings. New techniques, such as spectroscopy and diffusion, may help to characterise further brain tumours in children preoperatively.

Brain↗
PubMed2000

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

Several mitochondrial diseases are known to occasionally involve the cerebral white matter, namely Leigh syndrome, Kearns-Sayre syndrome, and MELAS syndrome, but in these cases the major finding is alteration in the basal ganglia and brainstem. Here we report on severe diffuse white matter involvement and respiratory chain enzyme deficiency or mitochondrial DNA rearrangement in 5 unrelated families. It is interesting that white matter lesions were the only abnormal neuroradiologic feature in 3 of the 5 families, and multiple small cyst-like white matter lesions were found in 2 of 5 probands. Respiratory chain deficiency should be considered in the diagnosis of severe white matter involvement in childhood.

Adolescent↗
PubMed2000

Practical management of hyperinsulinism in infancy.

Hyperinsulinism in infancy is one of the most difficult problems to manage in contemporary paediatric endocrinology. Although the diagnosis can usually be achieved without difficulty, it presents the paediatrician with formidable day to day management problems. Despite recent advances in understanding the pathophysiology of hyperinsulinism, the neurological outcome remains poor, and there is often a choice of unsatisfactory treatments, with life long sequelae for the child and his or her family. This paper presents a state of the art overview on management derived from a consensus workshop held by the European network for research into hyperinsulinism (ENRHI). The consensus is presented as an educational aid for paediatricians and children's nurses. It offers a practical guide to management based on the most up to date knowledge. It presents a proposed management cascade and focuses on the clinical recognition of the disease, the immediate steps that should be taken to stabilise the infant during diagnostic investigations, and the principles of definitive treatment.

Genetic Therapy↗
PubMed2000

Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism.

Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is a heterogeneous disorder characterized by profound hypoglycaemia due to inappropriate hypersecretion of insulin. An important diagnostic goal is to distinguish patients with a focal hyperplasia of islet cells of the pancreas (FoPHHI) from those with a diffuse abnormality of islets (DiPHHI), because the management differs significantly. The intriguing similarity between islet cell hyperplasia and tumourigenesis prompted us to investigate whether the imprinted genes in the 11p15 region are involved. Results showed that diffuse forms are caused by constitutional homozygous or compound heterozygous mutations of the SUR1 gene. In contrast, focal forms are caused by loss of the maternally inherited 11p15 region, resulting in both loss of the maternally expressed tumour suppressor genes accounting for hyperplasia and somatic reduction to hemizygosity or homozygosity of the paternally inherited SUR1, limited to the lesion. Thus, this somatic disorder, which leads both to beta-cell proliferation and to hyperinsulinism, can be considered the somatic equivalent, restricted to a microscopic focal lesion, of constitutional uniparental disomy associated with unmasking of a heterozygous parental mutation.

Adenosine Triphosphate↗