Dandy-Walker malformation associated with syringomyelia. Case illustration.
Explore the source record for details and available documents.
Dandy-Walker Syndrome↗
Biomedical subjects
M Zerah
Publications and source records attributed to M Zerah.
[Neuroglial heterotopia. Apropos of 8 cases with non-nasofrontal sites].
Neuroglial heterotopia, glioma, is an uncommon congenital nervous tissue tumor, usually found in a nasofrontal localization. About 60 cases with an atypical localization, usually in the pterygomaxillary fossa have been reported. We present 8 cases. Symptomatology followed CT-scan or MRI identified localization and was helpful in orienting diagnosis before biopsy. Exeresis was difficult, particularly in deep infratemporal localizations reaching the base of the skull. The main risk is recurrence. Different surgical approaches have been discussed and should be adapted to each case.
Choristoma↗
The value of MRI in the early diagnosis of growing skull fracture.
Growing skull fracture (GSF) is a progressive enlargement of a fracture due to an underlying tear of the dura mater. It is a rare complication of severe head injury mainly reported in young children. Classically, the diagnosis is made during follow-up, late after the original injury, when a palpable skull defect or a bulging mass is discovered clinically. Initial skull radiographs show a diastatic fracture developing later into a large bony defect. CT will show the brain damage which is usually present beneath the fracture. We present the MRI findings of GSF in a series of eight children. All patients initially had a large linear fracture and underlying brain damage on CT. In all cases MRI showed a zone of the same intensity as the brain contusion or cerebrospinal fluid advancing through the bone margins of the fracture to the subcutaneous plane. This finding was interpreted as an indirect sign of the dural tear. Seven patients were operated on with surgical confirmation of GSF. MRI can make an early diagnosis of GSF possible so that surgical repair with closure of the dura can be carried out before the dural tear enlarges.
Brain↗
[Mental prognosis of Apert syndrome].
BACKGROUND: Mental retardation, considered as common in Apert syndrome could be in part due to associated brain abnormalities. POPULATION AND METHODS: Sixty patients (32 males, 28 females) were included in the study. Patient age at the last examination was over 3 years (mean 10 years, range 3-28 years) in 38 patients. IQ was assessed from psychometric tests adapted for age. Brain anatomy was studied by MRI. Age at operation and quality of familial environment were also evaluated. RESULTS: The IQ was over 70 in 12 patients (32%), over 90 in five (13%) and the mean IQ was 62 (10-114). Thirty percent of patients had abnormalities of the corpus callosum, 43% of the cerebral ventricles and 55% of the septum pellucidum. There was no anomaly in 28% of the patients. One or more operations were performed in 53 patients, before one year of age in 37. Ten children were institutionalized or in deleterious family situation. The main factor influencing the mental prognosis was the age at operation: the final IQ was over 70 in 50% of the children operated on before one year of age versus 8% in those operated on later (P = 0.01). Only the anomalies of the septum pellucidum seemed to play a role: 50% of the patients with normal septum had an IQ > 70 compared to 18% in those with septum anomalies (P < 0.04). The quality of the familial environment also influenced the mental development: 12.5% of the patients who were institutionalized or in difficult familial situation had an IQ > 70 compared to 39% of those who live in a normal family. CONCLUSIONS: Careful investigation including MRI is necessary for detecting associated brain abnormalities. The patients must be operated on early, if possible before the age of nine months. Attention has also to be paid to quality of the sociofamilial environment.
Acrocephalosyndactylia↗
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.
A new cerebral disorder, described in three unrelated children, has recognizable clinical, radiologic, and neuropathologic findings. The onset occurs from early infancy to adolescence with slowing of cognitive performance, rare convulsive seizures, and a mixture of extrapyramidal, cerebellar, and pyramidal signs. CT shows progressive calcifications in the basal and cerebellar gray nuclei and the central white matter. MRI reveals diffuse abnormal signals of the white matter on T2-weighted sequences. A special feature is the development of parenchymal cysts in the cerebellum and the supratentorial compartment, leading to compressive complications and surgical considerations. Neuropathologic examination of surgically removed pericystic samples reveals angiomatous-like rearrangements of the microvessels, together with degenerative secondary changes of other cellular elements. Both the anatomic findings and the course of the disease suggest a constitutional, diffuse cerebral microangiopathy resulting in microcystic, then macrocystic, parenchymal degeneration.
Brain Diseases↗
Prognosis for mental function in Apert's syndrome.
The factors involved in the mental development of patients with Apert's syndrome were studied by the authors, focusing on the age of the patient at operation, associated brain malformations, and the quality of the family environment. Overall, 32% of patients with significant follow-up review had an intelligence quotient (IQ) greater than 70. Age at operation appeared to be the main factor associated with changes in mental development: final IQ was greater than 70 in 50% of patients operated on before 1 year of age versus only 7.1% in patients operated on later in life (p = 0.01). Malformations of the corpus callosum and size of the ventricles played no role in the final IQ, whereas anomalies of the septum pellucidum had a significant effect, with the proportion of patients with an IQ over 70 increasing more than twofold in patients with a normal septum compared with patients with septal anomalies (p < 0.04). Quality of the family environment was the third factor involved in intellectual achievement: only 12.5% of institutionalized children reached a normal IQ level compared to 39.3% of children from a normal family background.
Acrocephalosyndactylia↗
Nongalenic cerebral arteriovenous malformations in neonates and infants. Review of 26 consecutive cases (1982-1992).
We present 26 consecutive cases of nongalenic pial arteriovenous malformations (PAVMs) diagnosed in the neonatal period or in infancy. No diagnosis was made antenatally. Presenting symptoms in neonates were systemic cardiac manifestations (54%), seizures (31%), and hemorrhages (15%). In infants, hemorrhagic strokes and hydrodynamic disorders (external or internal hydrocephaly, macrocephaly, atrophy) both occurred in 38% of cases. Systemic cardiac manifestations and seizures were rare at that age (respectively 16% and 8%). Sixty-two percent of neonates and 31% of infants already had neurocognitive disorders (assessed by pediatric neurocognitive testing: Brunet-Leizine and Denver tests) when referred. The venous drainage and its anomalies (ectasias, stenoses, thromboses) were the main causes of symptoms. Atrophy and leukomalacic lesions occurred rapidly; they express local hydrovenous disorders and are specific to this population group. Untreated neonates and infants have a poor prognosis. Endovascular treatment, although partial and challenging in all instances, represents the treatment of choice in our series. Of the eight neonates treated, one improved to normal (12.5%), while four remained stable (50%): two neurologically normal, two with mild neurological deficit. Three (37%) died despite embolization (heart failure, multiorgan failure, postoperative death). Transient neurological complications occurred in two cases (25%): hemiparesis in one patient with a rolandic and in one with a thalamic AVM. Of the eight infants successfully embolized, one was significantly improved (12.5%) and is now neurologically normal, while five remained stable (62.5%): four neurologically normal, one with mild neurological deficit. One died between two sessions of embolization from intracerebral hemorrhage (12.5%). Hemianopsy occurred in one case (12.5%) after embolization of an occipital AVM. In one additional case in a normal child we failed to embolize the last small pial AVM of four after the three others had spontaneously thrombosed. With a minimal follow-up of 18 months and a maximum of 7 years, the review of our series shows 53% of the initial group of neonates and infants growing neurologically normal after therapeutic management in our institution; 23.5% died despite treatment, and the remaining 23.5% present minor neurological deficit. When targeted at the points of angioarchitectural weakness, embolization contributes to stabilizing a lesion. It should be undertaken rapidly to avoid loss of brain substance secondary to hemorrhage, atrophy, or leukomalacia, and to allow neurocognitive recovery and normal brain maturation. In our experience, these lesions are the most aggressive ones for the maturing brain, and the most difficult to approach technically. They represent a new therapeutic field and have their own specific anatomy and physiology.
Adolescent↗
Cerebral arteriovenous malformations in children. Management of 179 consecutive cases and review of the literature.
Over the past 10 years (1982-1992), we have been actively involved in the management of 179 cerebral arteriovenous malformations (CAVMs) in children and infants. Seventy-seven were true vein of Galen malformations (VGAMs) and 102 were pial AVMs (PAVMs), i.e., developed in the subpial space. Hemorrhage occurred as the first symptom in 50% of the children with pial AVMs, but was present in none of the VGAM cases. Only 31 children were found to be unsuitable for endovascular treatment, and in 124 cases embolization was indicated as the primary treatment (104 embolization performed). Only 21 children underwent a direct surgical approach (none in the VGAM group). In the embolized group in whom treatment has been completed (n = 56), 8 children died, 39 have an anatomical cure, and 34 are clinically normal. In the group under treatment (n = 48), 16 are not normal. The problems are timing and the aims (total or partial treatment) of the therapeutic procedures. In the nonembolized group (n = 31), 8/13 of the pial lesions were operated on (no mortality, 2 patients with moderate neurological deficits). In the VGAM group 13/18 died and 4 had spontaneous thrombosis (only 1 is neurologically normal). In the nonembolized group 13 lesions have been completely excluded, but only 5 patients are neurologically normal. This fact again stresses the need for prognostic evaluation before treatment and a clear definition of the treatment aims. Analysis of a large number of published series on the management of children with AVMs (1017 cases) reveals inconsistencies that hamper proper evaluation and comparison. In our experience, endovascular treatment always seems to be the best primary treatment in both VGAMs and PAVMs. However, management of children with these lesions requires a large multidisciplinary team, which is the only way of offering the most suitable and effective treatment, the sole guarantee of a good result.
Adolescent↗
Sciatic artery: a case, review of literature and attempt of systemization.
The authors describe a new case of persistent sciatic artery not yet described in the literature. This case is to be added to the four already existing classes of arterial vascularization of the pelvic members of certain animal species. This vascularization concerns two arteries of unequal significance according to the species. An embryological study of this vascularization is also performed. Following these studies, the authors will attempt an arterial systemization and parallel comparison of the different types of animal and embryologic vascularization and human variations of normal.
Animals↗
Enzyme-linked immunosorbent assay (ELISA) method for screening of non-classical steroid 21-hydroxylase deficiency.
Morning salivary 17-hydroxyprogesterone (17-OHP) determination is a useful method to diagnose non-classical 21-hydroxylase deficiency (NC 21-OHD). In ethnic groups with high frequency of NC 21-OHD, mass screening is thought to be necessary. A pilot screening test for NC 21-OHD was performed by measuring morning salivary 17-OHP by enzyme-linked immunosorbent assay (ELISA). Two individuals were found NC 21-OHD from 230 subjects. Results of this ELISA were well correlated with those of established radioimmunoassay. ELISA can be performed in any laboratory because of non-radioactivity and the procedure is very easy by the use of a microplate. This ELISA is suitable for large scale population studies. We conclude that morning salivary 17-OHP determination by ELISA is a useful method for NC 21-OHD screening test.
17-alpha-Hydroxyprogesterone↗
No evidence of mutations in the genes for type I and type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) in nonclassical 3 beta HSD deficiency.
Nonclassical 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase deficiency (NC3 beta HSDD) has been diagnosed in hyperandrogenic women with an increasing frequency during the last 14 yr. Fifteen menarcheal women with androgen excess syndrome, diagnosed with NC3 beta HSDD previously were restudied, in 12 after discontinuation of glucocorticoid treatment, in 2 patients never treated with glucocorticoids, and in 1 both before and after glucocorticoid therapy. Each of the 15 patients underwent ACTH stimulation testing, in some cases on multiple occasions. Although some (very few) patients seem to have improved with time, others remained the same or got worse. Molecular DNA analysis was also performed in 6 of the patients, using the strategy successfully used to detect point mutations in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene, which are responsible for classical 3 beta HSD deficiency. This strategy consists of the direct sequencing of polymerase chain reaction-amplified DNA fragments corresponding to the complete coding sequence and all intron-exon junctions and to the 5'- and 3'-noncoding region of this gene. We were unable to demonstrate any mutation of the type II 3 beta HSD gene in these 6 patients. To gain additional information about potential mutations, direct sequencing of the type I 3 beta HSD gene was also performed using this same strategy, and no mutations were found. The present study strongly suggests that unlike the salt-losing and nonsalt-losing forms of classical 3 beta HSD deficiency, NC3 beta HSDD is not due to a mutant type II 3 beta HSD enzyme. However, the possibility remains of a mutation(s) in the unsequenced regions of the type II 3 beta HSD gene or elsewhere, such as in a gene for modulatory protein, playing a specific role in the expression of the type II 3 beta HSD gene. On the other hand, knowing the multiple hormonal controls to which 3 beta HSD activity is subject, it cannot be excluded that at least in some cases, NC3 beta HSDD may be an acquired defect, the result of endogenous or environmental factors.
3-Hydroxysteroid Dehydrogenases↗
A technique of measuring the precision of an MR-guided stereotaxic installation using anatomic specimens.
PURPOSE: To develop a method for direct measurement, using anatomic specimens, of the precision of MR-guided stereotaxic location and to describe its application to a 1.5-T MR unit with a Leksell stereotaxic frame. METHODS: Small pieces of gelfoam (1 X 1 X 1 mm), soaked in gadopentetate dimeglumine, were stereotaxically introduced into formalin-fixed human heads using a Leksell D (three experiments) or G (nine experiments) stereotaxic frame. The head and the frame were then introduced into a 1.5-T MR unit. The target coordinates (as set on the stereotaxic frame by one investigator) were then compared with the MR-determined stereotaxic coordinates (calculated independently by another investigator). The imprecisions Ex, Ey, and Ez in each direction were defined as the differences between the calculated and the chosen coordinates. RESULTS: Regarding the three targets studied with the D frame, mean imprecision Ex was 1.08 +/- 0.50 mm (mean +/- SEM), Ey 0.83 +/- 0.58 mm, and Ez 0.75 +/- 0.25 mm. For the nine targets studied with the G frame, Ex was 0.48 +/- 0.17 mm, Ey 0.69 +/- 0.14 mm, and Ez 0.82 +/- 0.13 mm. Statistical analysis of the results showed no significant difference between Ex or Ey and half the size of a pixel, indicating that, in the axial plane, stereotaxic MR precision is limited only by pixel size. A statistically significant difference was observed in the coronal plane between Ez and half the size of a pixel, but it must be stressed that Ez remained smaller than 1 mm. CONCLUSION: MR-guided stereotaxic location can be used with confidence for most diagnostic, functional, and therapeutic procedures.
Calibration↗
Oblique transcorporeal approach to anteriorly located lesions in the cervical spinal canal.
The technique of obliquely drilling out the postero-lateral part of the cervical vertebral bodies is described. It uses the antero-lateral (retro carotico-jugular) approach to control and displace the vertebral artery postero-laterally and to expose the lateral aspect of the vertebral bodies. It provides, through a wide field and with minimal retraction of the carotid artery and the internal jugular vein, an extensive view of the anterior aspect of the spinal cord. It has already been used to treat 15 anterior lesions compressing the spinal cord including neurinomas and osteophytes.
Bone Transplantation↗
[Epidermoid cyst of the 4th ventricle. Apropos of a case in a child and review of the literature].
A 6 year-old child was admitted for a recurrent bacterial meningitis at Proteus Morganii. She was treated with antibiotics. The C.T. Scanner showed a midline low-density lesion, with a mild annular contrast uptake in the posterior fossa. M.R.I. showed the lesion and revealed a skin-bone-dura fistula. The surgical resection was complete. It was an epidermoid tumor. Intracranial epidermoid tumors constitute about 1% of brain tumors and are considered to be congenital. Epidermoid tumors of the 4th ventricle are exceedingly rare in childhood. The authors reviewed the literature and discuss the pathogeny, the radiographic diagnosis and the treatment of these tumors.
Brain Diseases↗
[Encephalo-cranio-cutaneous lipomatosis: a case].
Explore the source record for details and available documents.
Agenesis of Corpus Callosum↗
Hydrodynamics in vein of Galen malformations.
Forty-three patients with vein of Galen aneurysmal malformations (VGAM) referred to us for endovascular treatment between 1985 and 1990 and 335 additional cases published in the literature were reviewed with particular attention to the presence of ventricular enlargement and outcome after shunting. Hydrocephalus was the second most frequent symptom (46.8%); it is more frequent in infants (73%) than in children, adults (30%) or neonates (15%). Of the patients reported in the literature, 17.9% had undergone shunting. Within the shunted population there was an overall morbidity of 41% and a mortality of 10% (especially in the infant group). In our series 17 patients (39.5%) were shunted and a significant difference in the clinical outcome was noted between the shunted and the nonshunted group. Of the nonshunted patients, 66.6% were free of any neurological deficit or mental retardation and fewer than 5% presented with significant mental retardation. On the other hand, only 33.3% of the shunted patients had a favorable outcome and more than 15% developed significant mental retardation. Among the various causes of hydrocephalus in patients with VGAMs, such as obstruction of the aqueduct, subarachnoid hemorrhage, or ex vacuo hydrocephalus, high venous pressure may be of particular importance. In this article a physiopathological interpretation of the hydrodynamics in VGAMs is developed and a speculative explanation for CSF disorders related to ventricular shunting proposed. Treatment of hydrocephalus in VGAMs can be achieved through obliteration of the malformation or at least diminishing the venous pressure; surgical ventricular shunting does not have to be the first treatment of hydrodynamic disorders associated with VGAMs, especially in infants.
Brain Damage, Chronic↗
Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency: a review of our experience with 25 female patients.
OBJECTIVE: To report 15 new menarcheal women affected with nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency (nonclassical 3 beta-HSD) and evaluation of glucocorticoid therapy in treated patients. DESIGN: Diagnosis of these new patients using a standard adrenocorticotropin test. Effects of glucocorticoid therapy on clinical hormonal and sonographic features of each patient are appreciated for periods varying between 4 months and 7 1/2 years. SETTING: All at The New York Hospital-Cornell Medical Center. The Pediatric Endocrinology Ambulatory Service; the Children's Clinical Research Center Core Laboratories; and the Department of Radiology. PATIENTS, PARTICIPANTS: Fifteen menarcheal women (14 to 30 years of age) newly diagnosed and 10 women previously diagnosed were evaluated for symptoms of hyperandrogenism and/or irregular menses. MAIN OUTCOME MEASURE(S): Positive effect of glucocorticoid therapy on signs and symptoms, hormonal levels, and ovarian imaging. RESULTS: Polycystic ovarian syndrome is noted in approximately half the cases. Glucocorticoid treatment greater than 3 months duration results in a reversal of symptoms in most cases.
3-Hydroxysteroid Dehydrogenases↗
Vein of Galen malformation. Endovascular management of 43 cases.
Since 1984, 43 patients with true vein of Galen aneurysmal malformations have been referred to us and managed according to our patient selection, technique, and follow-up guidelines. Thirty-four were embolized transarterially with bucrilate (isobutyl cyanoacrylate) or enbucrilate (N-butyl cyanoacrylate) embolization. No cutdown or hypotension during or after the embolization was used and no balloon catheter was employed. Forty-seven percent of the children had a completely occluded lesion which was confirmed when the child was at least 6 months of age at the follow-up angiographic examination; 52.9% were found to be completely normal or only to have mild cardiac failure that could be treated medically or moderate macrocephaly without neurological symptoms or mental retardation. In the embolized group 5.8% died as a result of the wrong treatment (1 case) or poor timing of embolization 3 days after ventricular shunting (1 case). The overall mortality (embolized and non-embolized groups) in the neonatal children was 27.7% with a total of 18.6% for all ages. Complete morphological exclusion of the arteriovenous malformation was accomplished in 41.9%; 74.4% of all children referred are now clinically normal or present moderate mental retardation which is diminishing. There was 3% neurological morbidity in the embolized group (only following the venous approach) in 78 sessions and more than 100 arteries embolized. These results compare favorably with surgical or other techniques of arterial embolization (balloon or particles), as well as transvenous (transtorcular or transfemoral) embolization, where the morbidity and mortality are significantly higher and the late clinical evaluation is seldom satisfactory.(ABSTRACT TRUNCATED AT 250 WORDS)
Adolescent↗