SEARCH · PubMed Health

Results for “Microcephaly”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,027 records · Page 57Linked to original sources

PubMed1984

The collection of human skulls and postcranial skeletons at the department of human anatomy of the University of Torino (Italy).

The human osteological collection at the Department of Human Anatomy, University of Torino, Italy, has recently been rearranged and recatalogued, and is now available for study. It comprises 1,064 modern skulls of known sex (384 males and 680 females); the age is also recorded in 712 cases. Of these skulls, 162 are from persons aged less than or equal to 20 years of known sex. A few skulls also have the postcranial skeleton (35 males and 39 females). The collection includes microcephali and hydrocephali, and also some prehistoric, Etruscan, Phoenician, Egyptian, Greek, Roman, Ancient Jewish, and Lombard skulls. A brief catalogue is provided.

Adolescent↗

PubMed2002

Imaging the metabolic footprint of Glut1 deficiency on the brain.

Cerebral 18F-fluorodeoxyglucose positron emission tomography in 14 patients with microcephaly, developmental delay, seizures, and mutations of the glucose transporter Glut1 (Glut1 deficiency syndrome) showed distinct abnormalities. Within a global context of diminished cortical uptake, more severe hypometabolism was found in the mesial temporal regions and thalami, accentuating a relative signal increase in the basal ganglia. In contrast, the structure of the brain appeared preserved in patients additionally investigated by magnetic resonance imaging. This metabolic footprint was relatively constant in all patients regardless of age, seizure history, or therapies and therefore constitutes a radiological signature of the disease. The full expression of the signature in the youngest patient (aged 19 months) indicates that the state of haploinsufficiency caused by Glut1 mutation leaves a permanent footprint on the nervous system from its earlier postnatal stages of development. The potential benefit of prompt diagnosis, aided by 18F-fluorodeoxyglucose positron emission tomography, and early initiation of available therapies is underscored by our results.

Adolescent↗

PubMed2003

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

Polymicrogyria is a common malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination. Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to a locus on chromosome 16q12-21. Here, we extend our observations to include 19 patients from 10 kindreds, all linked to the chromosome 16q locus, allowing us to define the clinical and radiological features of BFPP in detail. The syndrome is characterized by global developmental delay of at least moderate severity, seizures, dysconjugate gaze, and bilateral pyramidal and cerebellar signs. Magnetic resonance imaging demonstrated symmetric polymicrogyria affecting the frontoparietal regions most severely, as well as ventriculomegaly, bilateral white matter signal changes, and small brainstem and cerebellar structures. We have refined our genetic mapping and describe two apparent founder haplotypes, one of which is present in two families with BFPP and associated microcephaly. Because 11 of our patients initially were classified as having other malformations, the syndrome of BFPP appears to be more common than previously recognized and may be frequently misdiagnosed.

Adolescent↗

PubMed1979

Cockayne syndrome: unusual neuropathological findings and review of the literature.

Two siblings with Cockayne syndrome (CS) are described and the literature on the subject is briefly reviewed. Of particular interest were the unusual neuropathological findings in 1 of the patients. These included microcephaly, white matter atrophy with patchy loss of myelinated fibers, calcifications of the basal ganglia, occasional ferrugination of cerebral and cerebellar neurons, and severe cerebellar degeneration. Findings not previously reported in CS were proliferation of extremely bizarre astrocytes, neurofibrillary tnagles, and pigmentation of the globus pallidus. We conclude that brain involvement in CS is a result of primary degeneration in the central nervous system rather than being secondary to angiopathy or normal pressure hydrocephalus, as previously suggested.

Adolescent↗

PubMed1983

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

Thirty-five patients, exclusively girls, from three countries had a uniform and striking progressive encephalopathy. After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. Within one-and-a-half years this deterioration led to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and acquired microcephaly. The destructive stage was followed by apparent stability lasting through decades. Additional insidious neurological abnormalities supervened, mainly spastic parapareses, vasomotor disturbances of the lower limbs, and epilepsy. Prior extensive laboratory investigations have not revealed the cause. The condition is similar to a virtually overlooked syndrome described by Rett in the German literature. The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses.

Adolescent↗

PubMed1986

Neurological manifestations in xeroderma pigmentosum.

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.

Adolescent↗

PubMed1992

Lethal cytomegalovirus infection in preterm infants: clinical, radiological, and neuropathological findings.

Fifteen premature infants with lethal congenital cytomegalovirus infection were studied to determine the clinical, neuroradiological, and neuropathological characteristics of the disease in this population. Nine infants were liveborn but died at a postnatal age of 18 +/- 21 days; 6 infants were stillborn. Clinical findings in liveborn infants included microcephaly (77%), seizures (55%), hypotonia (33%), and multiple contractures (18%). Ophthalmological findings included chorioretinitis, optic atrophy, and corneal opacities. Neuroradiological findings included the postnatal evolution of periventricular calcification in 1 infant, and cerebellar hypoplasia diagnosed by magnetic resonance imaging in 1 infant. Neuropathological findings included periventricular necrosis and calcification (12), associated diffuse calcification frequently involving the convexity of the gyri (6), cerebellar hypoplasia (5), periventricular leukomalacia (2), intraventricular hemorrhage (2), hydrocephalus (2), and porencephalic cyst (1). Intranuclear inclusion bodies within the brain were observed in 4 infants, whereas systemic inclusion bodies were present in all infants. These data indicate several atypical findings in preterm infants rarely reported in term infants, including hypotonia, multiple contractures, periventricular leukomalacia, and optic atrophy.

Atrophy↗

PubMed1993

Short-term response to dietary therapy in molybdenum cofactor deficiency.

Molybdenum cofactor deficiency was diagnosed in a 3-month-old girl who presented with microcephaly, developmental delay, severe irritability, and lactic acidosis. Dietary methionine restriction, with cysteine supplementation, was associated with moderate short-term clinical improvement, including a resumption in predicted head growth, modest developmental progress, and a reduction in irritability. Clinical relapse was associated with noncompliance of dietary therapy 2 months later. Urinary sulfite levels measured by commercial dipsticks were useful in following therapy. Molybdenum cofactor deficiency is probably frequently underdiagnosed due to the lack of specific clinical or laboratory features. Screening of infants at risk for the presence of urinary sulfites or serum hypouricemia, or both, is both rapid and inexpensive.

Acidosis, Lactic↗

PubMed1998

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is an inborn error of serine biosynthesis. Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures. The effects of oral treatment with amino acids were investigated in 2 siblings. L-Serine up to 500 mg/kg/day was not sufficient for seizure control. Addition of glycine 200 mg/kg/day resulted in complete disappearance of seizures. Electroencephalographic abnormalities gradually resolved after 6 months. We conclude that 3-PGDH can be treated effectively by a combination of L-serine and glycine.

Carbohydrate Dehydrogenases↗

PubMed2005

Impaired development of mitochondria plays a role in the central nervous system defects of fetal alcohol syndrome.

BACKGROUND: Alcohol consumption during pregnancy can induce a wide spectrum of adverse effects in offspring. Microcephaly and mental retardation are two major defects of central nervous system (CNS). Most mechanism studies of alcohol-related CNS defects have been focused on the morphologically abnormal tissues, and more attention has been paid to nuclear alteration as opposed to organelle development. METHODS: A mouse model of fetal alcohol syndrome (FAS) was used to investigate the effect of alcohol on fetal cerebral mitochondria development. Pregnant mice were given different doses of ethanol intragastrically from GD6 to GD15. Fetal cerebral mitochondria were isolated and analyzed on GD18. RESULTS: Excessive cell apoptosis was found in the cerebra of prenatal alcohol exposure fetuses. Proliferation and differentiation of fetal cerebral mitochondria were inhibited by alcohol. Affected mitochondrial volume constriction and adenosine triphosphate (ATP) accumulation, reduced activities of respiratory chain complex I and IV and ATP synthase were detected in the cerebral tissue without obvious malformed appearance. CONCLUSIONS: Impaired mitochondria development plays a role in the CNS defects induced by prenatal alcohol exposure.

Animals↗

PubMed2005

Combined chemotherapy and teratogenicity.

BACKGROUND: The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and absence of distal finger phalanges associated with maternal exposure to chemotherapeutic agents during the first trimester of pregnancy. These associations have not been previously described. CASE: The patient was born by normal delivery after 38 weeks of pregnancy. His mother became pregnant while receiving chemotherapy (cyclophosphamide, 5-fluorouracil, and adriamycin) for breast cancer, and the fetus was exposed to these drugs from conception to the 16th week of pregnancy. At birth, anomalies were observed, including a high-arched palate, microcephaly, a flat nasal bridge, bilateral syndactyly in the first and second fingers with a hand cleft between the second and third fingers and hypoplasia of the fifth fingers, and dystrophic nail of the fourth finger of the left hand. The patient's growth and development were deficient. CONCLUSIONS: The malformations associated with in utero exposure to these chemotherapeutic agents are highly variable, but growth deficiency and anomalies of the craniofacial region and limbs are the most common. The pattern of malformations in children who were congenitally exposed to chemotherapeutic agents appears to be directly related to the age at and duration of exposure, rather than to the specific drug itself. Effective contraception is essential for the safe use of a potential teratogen in nonpregnant women of reproductive age.

Abnormalities, Drug-Induced↗

PubMed1990

Numbers of neurons and glia in mature rat somatosensory cortex: effects of prenatal exposure to ethanol.

Stereological methods were used to examine the consequences of prenatal exposure to ethanol on the structure of area 3, primary somatosensory cortex, of the mature hooded rat. Pregnant rats were fed a liquid diet containing 6.7% (v/v) ethanol (Et), pair-fed an isocaloric liquid control diet (Ct), or fed a diet of chow and water (Ch). Cresyl violet-stained sections of 3-month-old pups were examined. The corrected mean size of the cell bodies of neurons in layers other than layer V was significantly smaller in the Et-treated rats; conversely, the mean somatic size of glia in each layer was significantly larger in the Et-treated rats. The laminar cell packing density for neurons and glia, however, was similar in rats from both treatment groups. The overall volume of area 3 and the volume of individual layers were about 33% smaller in Et-treated rats than in the pair-fed controls. Thus, the estimated total number of neurons in Et-treated rats (1.79 X 10(6] was significantly fewer than in Ch-treated rats (2.77 X 10(6] and in Ct-treated rats (2.66 X 10(6]. The total number of glia also was about 30% fewer in Et-treated rats than in the controls. Not all layers were affected equivalently. The space occupied by the neuropil was significantly greater in Et-treated rats, but only in layers II/III, IV, and VI; hence, the cell body/neuropil ratio in these layers was less in Et-treated rats than in the controls. Therefore, microcephaly caused by prenatal exposure to ethanol results not only from a miniaturization of the brain, but also from a permanent abnormal organization of cerebral cortex.

Animals↗

PubMedDate not supplied

Prenatal sonographic diagnosis of Neu-Laxova syndrome.

We report the sonographic diagnosis of Neu-Laxova syndrome in a fetus at 27 weeks' menstrual age. The parents were first cousins. Sonography revealed microcephaly, a sloping forehead, exophthalmos, a small thorax and abdomen, hypoplastic lungs, syndactyly, hyperextended knees, polyhydramnios, a small placenta, and intrauterine growth restriction. The long bones were normal. The calvaria was hyperechoic and associated with shadowing, obscuring any intracranial abnormalities. This sonographic finding was presumed to represent calvarial calcification, not previously described with this syndrome. We believe that Neu-Laxova syndrome can be reliably diagnosed prenatally by demonstrating the sonographic features described, although other conditions with similar sonographic features need to be considered in the differential diagnosis.

Abnormalities, Multiple↗

PubMed2006

Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.

Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10-year-old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders.

Athetosis↗

PubMed2005

Late-onset growth restriction in Galloway-Mowat syndrome: a case report.

Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder and is characterized by marked intrauterine growth retardation, central nervous system anomalies, and early onset nephrotic syndrome. Of the reported cases in the literature, all were diagnosed postnatally. We describe a case of GMS in which only late-onset intrauterine growth restriction was detected by prenatal ultrasound. In her fourth pregnancy, the mother had delivered a male baby with clinical features of GMS who died at seven months of age due to early onset of nephrotic syndrome. In her fifth pregnancy, serial ultrasound examinations were normal during the first and second trimester of pregnancy. Growth restriction and microcephaly were not detectable until 28 to 32 weeks' gestation. At 40 weeks' gestation, a female baby was born with dysmorphic features of GMS. Nephrotic syndrome developed after birth and renal biopsy revealed minimal change nephrotic syndrome. The prenatal course of this case suggests GMS may not be diagnosed in early pregnancy and the only abnormality detected before birth was intrauterine growth restriction.

Abnormalities, Multiple↗

PubMed2005

Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI.

We report two cases in the same family of progressive neuronal degeneration of childhood--Alpers syndrome--with prenatal MRI findings in one case. The first infant presented at birth with severe microcephaly, then rapidly evolved to progressive encephalopathy with refractory epilepsy, leading to death at 10 months. Biochemical investigations including liver function tests were normal. CT and MRI showed severe diffuse brain atrophy. The diagnosis of progressive neuronal degeneration of childhood was made on the clinical and imaging data. The second pregnancy was marked by gradual decrease of fetal cerebral biometry and a prenatal MRI performed at 32 weeks showed diffuse cortical atrophy, as observed in the sibling. The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome.

Abnormalities, Multiple↗

PubMed2001

Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.

Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analysis on cord blood revealed only a normal 46,XX karyotype. Microsatellite analysis of 27 chromosome 20 loci confirmed maternal UPD for all 11 informative markers. Maternal heterodisomy was detected in two and maternal isodisomy in three loci. In the remaining six loci, a non-informative maternal UPD pattern was displayed, as mother and proband are homozygous for the same allele. To our knowledge this is the first reported case of maternal disomy 20 with normal karyotype ascertained by a mosaic trisomy 20 pregnancy.

Adult↗

PubMed1982

Selective feticide of the affected twin by fetoscopic air embolism.

Three twin pregnancies, each with one affected fetus (by microcephaly, haemophilia A and spina bifida respectively) were encountered. Selective feticide was performed at the patient's request by injection of filtered air into an umbilical vessel by fetoscopy. The method was successful in all three pregnancies two of which resulted in a live, healthy baby.

Abortion, Induced↗