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The pathologic anatomy of the central nervous system is described in a patient with Apert's syndrome. Multiple developmental anomalies of the brain were noted including disturbances of rhinencephalic organization. The association between maldevelopment of the rhinencephalon and the face is well known. Cranial vault malformations may also be associated with maldevelopment of the rhinencephalon.
INTRODUCTION: Fetal central nervous system (CNS) abnormalities have diverse etiologies, with genetic factors as a major contributor. Prenatal exome sequencing (ES) is a powerful tool for precise molecular diagnosis of CNS anomalies, but its diagnostic yield varies among studies. This study aimed to evaluate the additional diagnostic yield of prenatal ES compared with chromosomal microarray analysis (CMA) in fetuses with CNS anomalies detected by prenatal imaging. MATERIAL AND METHODS: We collected ES results from fetuses diagnosed with CNS anomalies by prenatal imaging (2019-2024) who had negative results. Subgroup analyses assessed phenotype-specific ES diagnostic yield for associated genes and variants. A systematic review and meta-analysis incorporating our data and published studies further explored the association between phenotype and diagnostic yield. RESULTS: In the cohort study of 219 cases, ES identified pathogenic/likely pathogenic single nucleotide variations in 36 cases (16%). The highest diagnostic yield of ES was in cases with multisystem malformations (25%, 14/55), followed by multiple CNS anomalies (15%, 2/13) and isolated CNS anomalies (13%, 20/151). The most commonly identified isolated CNS anomaly was agenesis of the corpus callosum (31%, 5/16). Neural tube defects with urogenital anomalies were associated with a positive ES finding in 57% (4/7) of cases. The meta-analysis of 989 cases from 22 studies showed a pooled diagnostic yield of ES of 27% (95% CI, 21%-34%). The highest diagnostic yield of ES was in cases of corpus callosum anomalies with facial abnormalities (75%, 8/11) and neural tube defects with urogenital malformations (80%, 12/15). The diagnostic yield of ES for three or more CNS abnormalities was 43% (95% CI, 31%-58%), significantly higher than that for only two abnormalities (10%, 95% CI, 4%-18%). No significant difference in diagnostic yield was found between cases identified by prenatal MRI combined with ultrasound (27%, 95% CI, 20%-36%) and those identified by ultrasound alone (25%, 95% CI, 17%-35%). CONCLUSIONS: ES provided a significantly higher diagnostic yield than CMA for fetal CNS abnormalities, with diagnostic yields varying by phenotype. The systematic review and meta-analysis confirmed that the complexity and combination of malformations are key factors associated with differences in ES diagnostic yield.
Five patients with Down syndrome (DS) and infantile spasms were examined in a four-year interval. Previous reports of this association have been infrequent except during experimental treatment with 5-hydroxytryptophan, a precursor of serotonin. Malformations of the brain in DS are associated with an increased incidence of epilepsy, and both gross and cytoarchitectural anomalies have been described. The severity and distribution of these central nervous system anomalies presumably predispose to the infantile spasms. The contribution of altered serotonin metabolism is uncertain.
Twins of dissimilar size have increased risks both at delivery and in the neonatal period. When dissimilar growth is severe, it should be reflected in birthweight and biparietal diameter (BPD) growth. Sonograms were done on 74 of 106 sets of twins delivered from July 1, 1973, to June 30, 1977. Excluding prematurity and birth trauma, the difference in BPD between twins with normal outcomes in the last scan prior to delivery was 1.32 +/- 0.20 mm (mean +/- SE) and the difference in birthweight was 250.3 +/- 31.4 g (mean +/- SE). In 7 sets of twins with poor outcomes (intrauterine fetal demise or severe intrauterine growth retardation) without central nervous system anomalies the difference in BPD between twins in the last scan, while both fetuses were alive, was 6.86 +/- 1.06 mm (mean +/- SE) and the difference in birthweight was 604.3 +/- 217.2 g (mean +/- SE). Both the BPDs and birthweights are significantly different at the P less than 0.01 level. Large differences in BPD between twins may possibly indicate compromise of one twin.
Meckel syndrome was diagnosed prenatally by alpha-feto protein and beta-trace protein determinations in amniotic fluid. No central nervous system anomalies were detected in the affected fetus, who presented with large polycystic kidneys and polydactyly. An excessive synthesis of these fetal proteins by the dysplastic kidneys is suggested, allowing for the possibility of prenatal diagnosis of polycystic kidneys in families at risk for this disease. The present family emphasized the importance of amniocentesis in pregnancies at risk for Meckel syndrome, regardless of the presence of a defect in neural tube closure.
The author presents cases of dysmorphic children born to alcoholic mothers to illustrate his discussion of the "fetal alcohol syndrome". The fact that this malformative syndrome has not been recognized before 1968 is amazing, particularly if one considers the high frequency of alcohol addiction and the relative specificity of the birth defects making up the syndrome. Newborns from severely alcoholic mothers are small for date, microcephalic, and they have abnormal facial features, as well as an increased frequency of other malformations (heart, genitalia, extremities). Neurological and mental deficiencies are recognized early in most of these children. Central nervous system anomalies are beginning to be described by the neuropathologists, which correspond to these clinical findings.
A case is presented of a new eight-month-old infant with congenital anophthalmos and ipsilateral absence of cerebral tissue. Various central nervous system anomalies are described as associated with anophthalmos. Therapy is directed toward enlargement of the socket by expansion and/or surgical techniques. Early expansion therapy within the first year of life appears warranted in view of differential orbital growth rates.
The records of an ongoing health surveillance registry that utilizes multiple sources of ascertainment were used to study the incidence rates of congenital malformations of the central nervous system in children born in British Columbia during the period 1952-72. No overall increase in incidence rate of these anomalies was detected over the study period and the total frequency ascertained was three per thousand births. For anencephaly, spina bifida, hydrocephaly, and other CNS anomalies, the estimated incidence rates per 1,000 births are 0.6, 0.8, 1.0 and 0.5 respectively. A greater incidence rate or neural tube closure defects was found in females than in males and this difference was most marked amongst the stillbirths. The data indicate that multiple sources of ascertainment and follow-up of children beyond one year after birth are necessary for adequate reporting even for these sorts of defects which have generally been though to be readily recognized at or shortly after birth.
In a group of 556 patients with ruptured intracranial aneurysms in 80 (14%) prodromal manifestations were present before haemorrhage. They included most frequently headaches vomiting, disturbances of eye movements and transient disturbances of consciousness. Prodromal symptoms were most frequent in cases of vertebral-basilar aneurysms.
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A case of severe lethal neonatal dwarfism is reported. It appears to be a new variety of short rib-polydactyly dwarfism. It is characterized by severe lack of ossification of all bones except the clavicle and the presence of cleft palate, as well as genitourinary, central nervous system and cardiovascular anomalies. Electronmicroscopy revealed accumulations of granular material in the chondrocytes.
Venous angioma is a rare vascular anomaly of the central nervous system. Pathologically, it resembles arteriovenous malformation, but the vascular changes are seen only in the veins. In the present case, the lesion was seen better with dynamic rather than static radionuclide examination. In a computerized dynamic study, the circulation time in the lesion was significantly prolonged compared with the circulation time in the symmetrical area of the contralateral hemisphere. The peak of the time-activity curve also appeared later in the lesion area than in the symmetrical contralateral area. Thus the use of the computerized gamma camera is useful in the diagnosis of venous angioma and the method seems to have some differential diagnostic possibilities.
A variety of anomalies of the central nervous system are observed in trisomy 18. The present case describes an infant having a type II Arnold-Chiari malformation without spina bifida. One previous case of an Arnold-Chiari malformation was reported in trisomy 18 but that infant also had a lumbar meningomyelocoele. Abnormalities of cerebral gyration, hydrocephalus, and agenesis of the corpus callosum were also found in the present case.
A full-term, 2,828-g male infant who lived five weeks had histologically proven, bilateral, congenital anophthalmos. The infant had multiple congenital anomalies including esophageal atresia, choanal stenosis, tetralogy of Fallot, persistent left superior vena cava, arhinencephaly, retardation of myelination in the brain, cerebellar sclerosis, and dysplasias, as well as other developmental anomalies of the central nervous system. There was no family history of anophthalmos, and, in view of the arhinencephaly, we diagnosed sporadic secondary anophthalmos.
Ito's syndrome is a distinct entity characterized by bilateral systematized linear depigmentations denominated by Ito as "incontinentia pigmentiachromians". The syndrome includes a variety of anomalies predominantly affecting the central nervous system, the eyes, and the muscular-skeletal-system. The patient described in this paper was a 26 year old man suffering from a sever scoliosis. This anomaly had not been mentioned in previous case reports.
Cavernous hemangioma of the retina is an unusual vascular hamartoma whose coexistence with vascular anomalies of the skin and central nervous system has been recognized recently. A 39-year-old woman, who had an acute palsy of the right third cranial nerve, had a history of seizures, cutaneous vascular anomalies, and a cavernous hemangioma of the retina of the right eye. One of her daughters demonstrated bilateral retinal cavernous hemangiomas, and another daughter, who developed seizures when febrile, displayed cutaneous vascular anomalies. A four-generation pedigree showed a number of cutaneous vascular anomalies, seizures, and stroke-related deaths. The pedigree suggests further support for considering this disorder an authentic oculoneurocutaneous triad.
A survey of all anaesthetists in the West Midlands region--that is, 10% of all the anaesthetists in England and Wales--showed that one in 10 of their children had been referred to a consultant because of a congenital or nonacquired anomaly. Abortions among anaesthetists' families were also common but more so when the mother was an anaesthetist. The anomalies were concentrated particularly in the central nervous system and musculoskeletal system, and girls were worst affected. The mean birth weights were below normal, more so when the mothers were anaesthetists. Girls with anomalies were particularly underweight. Other effects observed were unexpected infertility, cancer both in the adults and in the children, and, possibly, impaired intellectual development in the children. Many anaesthetising areas were inadequately ventilated, and scavenging devices despite their inefficiency are recommended as a stopgap measure. The results of the study closely resemble those of other studies with similar high response rates to requests for information.
Ribavirin, when given to pregnant hamsters in relatively small single doses, induces congenital anomalies of limbs, ribs, eyes, and central nervous system, as well as fetal deaths. On the basis of these findings, caution should be used in giving ribavrin to women of child-bearing age.