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Results for “Microcephaly”

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PubMed1989

[Computed tomographic study of children with microcephaly].

Computed tomographic (CT) brain scanning was performed on fifty-eight infants and children with microcephaly. CT scans were useful for detecting unsuspected brain lesions and for diagnosing underlying diseases. The head size did not correlate with the CT findings, the degree of mental retardation, or the existence of motor disturbance or epilepsy. On the other hand, the CT findings were correlated with the degree of mental retardation, and the existence of motor disturbance or epilepsy. CT scans were useful for determining the prognosis of the microcephaly.

Brain↗

PubMed1988

A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation.

Chorioretinal and retinal anomalies, among others, have been described in association with true autosomal recessive microcephaly. Accompanying hypertrophy of retinal pigment epithelium has been described in association with Gardner's syndrome. We present the cases of three siblings (two boys and one girl) with true autosomal recessive microcephaly without mental retardation and without associated systemic anomalies who showed hypertrophy of the retinal pigment epithelium similar to that described in Gardner's syndrome. In the boys, these spots were located on a background of fine variations in pigment, with scattered depigmented atrophic areas revealing the sclera in the peripheral and midperipheral fundus. Superadded white spots were located in front of the retinal vessels. The younger boy also had discrete patches of chorioretinal atrophy of 0.5 to 1 disc diameter. The girl, in addition to the hyperpigmented spots, had a diffuse area of chorioretinal atrophy. The anomalies described above suggest that congenital hypertrophy of the retinal pigment epithelium is not unique to Gardner's syndrome.

Abnormalities, Multiple↗

PubMed1986

Computed tomography of the head in the evaluation of microcephaly.

Eighty-five infants and children found to have microcephaly had computed tomographic (CT) brain scans performed. A greater degree of microcephaly correlated with the finding of atrophy or ventricular dilation on CT scan. Patients who had known preceding destructive brain insults had the highest incidence of abnormal findings on scans (20/22). Patients who had CNS dysfunction of unknown etiology had the lowest frequency of abnormal findings (12/33); however, in three of these patients, a previously unsuspected brain malformation was found on CT scan. Patients who had other congenital anomalies had an intermediate proportion of abnormal findings on CT scans (20/30), and in 11 of these scans, a previously unsuspected or only partly suspected brain malformation was diagnosed. Discovering previously unsuspected information or finding supportive data regarding the basis for the underlying disease process, being able to provide a more specific developmental prognosis and accurate genetic counseling, justifies the inclusion of a CT scan of the head in the evaluation of the microcephalic child.

Adolescent↗

PubMed1986

Congenital microcephaly due to vascular disruption: in utero documentation.

Death in utero of one member of a monozygotic twin pair has been associated with vascular disruptive phenomena in the surviving twin. It has been hypothesized that this event initiates clot formation in the surviving twin with consequent necrosis of tissues distal to the occluded vessels. This case report describes onset in utero of multicystic encephalomalacia and microcephaly in a surviving twin whose brain appeared normal on ultrasound scanning before death of the cotwin at 21 weeks' gestation. The case provides further support for the hypothesized pathogenetic sequence and illustrates the importance of reviewing all prenatal ultrasound scans in infants with congenital microcephaly.

Cerebral Infarction↗

PubMedDate not supplied

[Hereditary microcephaly with autosomal dominant chorioretinal dysplasia (author's transl)].

Within the heterogeneous group of microcephalies, a syndrome can be defined characterized by microcephaly, mental retardation, and chorioretinal dysplasia, often also with microphtalmia and embryonic remnants such as persistance of the primitive vitreum. Although this condition is usually considered autosomal recessive, the authors report a family observation consistent with dominant transmission.

Abnormalities, Multiple↗

PubMedDate not supplied

[Association of early-onset nephrotic syndrome and microcephaly. Apropos of 4 cases in 2 families].

The authors report 4 cases in 2 different families of a syndrome characterized by nephrotic syndrome of early onset (during the first 2 years of life) and microcephaly. Such an association was previously reported in 5 cases. In 4 it was familial. The study of families suggests an autosomal recessive transmission. Microcephaly was associated with psychomotor retardation, sometimes dysmorphic facies and various neurologic abnormalities. The nephrotic syndrome was characterized by its early onset and prognostic severity. However, the renal histologic lesions were heterogeneous: either minimal glomerular changes with focal and segmental hyalinosis or mesangial sclerosis, or, so-called "microcystic dysplasia". This heterogeneity does not suggest a single genetically determined disorder.

Age Factors↗

PubMed1980

["True" microcephaly with dominant-inheritance chorioretinal dysplasia].

Adult↗

PubMedDate not supplied

Ethanol induced microcephaly in the neonatal rat: occurrence without withdrawal.

Neonatal rats exposed to ethanol with an artificial rearing technique on postnatal days 4--8 have been found to have up to 20% decrease in brain weight when examined on postnatal day 18. Following the four day ethanol exposure these animals went through a moderate to severe abstinence syndrome. Since the appearance of any detectable brain growth differences were not found until after the withdrawal period, it was possible that the microcephaly was a result of withdrawal and not ethanol exposure. To test this hypothesis, neonatal rats were exposed to ethanol for either the four day exposure period used in the previous work, or until determination of brain growth impairment at day 11. This last group of animals were administered a daily dose of ethanol such that they did not have an observable abstinence syndrome. Examination of brain weights on day 11 revealed no differences in the extent of the observed microcephaly between the ethanol exposure conditions, suggesting that withdrawal per se was not responsible for the production of the brain growth retardation.

Animals↗

PubMed1981

[Antenatal microcephaly. A contribution of ultrasound. Twelve cases (author's transl)].

It is necessary to think about the frequency of mistakes made at term as well as about the rare case of antenatal microcephaly when confronted with an abnormally small biparietal diameter. The authors, when confronted on twelve occasions with the problem of antenatal microcephaly, classified two situations: the discovery from systematic screening of a break in the growth of the cranial diameters. In the case of overall growth retardation of the fetus it becomes necessary to carryout amniocentesis to look for associated chromosome abnormality (two out of twelve cases); ultrasound monitoring of a pregnancy in the woman who has previously delivered a microcephalic infant in order to diagnose a possible recurrence of the condition (three out of the twelve cases). Furthermore the authors point out tha there are limits to the method. Ultrasound is only a complementary examination and the results obtained should be studied critically, confirmed by repeated examinations and integrate into the whole clinical picture. Finally, it is not always possible to differentiate between the normal and the abnormal by ultrasound. In borderline cases ultrasound has the advantage that it can point out the need for extra careful post-natal examination of the infant.

Adult↗

PubMed1994

Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.

A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated mosaicism with: 2 cells with 49, XX, +mar,+mar,+mar; 21 cells with 48, XX, +mar,+mar; 57 cells, with 47, XX,+mar; 20 cells with 46,XX; while parental karyotypes were normal. This syndrome therefore associates optic atrophy, mental retardation and microcephaly and short stature with chromosomal instability in the form of variegated mosaicism.

Abnormalities, Multiple↗

PubMed1995

Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents.

The female proband, from Turkish extraction was the fifth liveborn child of a 24-years-old mother and a 25-years-old father. Her parents as well as her two older sisters and her two older brothers were phenotypically normal. Parents were first cousins. At birth a complex cardiac defect was diagnosed (tricuspid atresia, hypoplasia of the pulmonary artery, dextroposition of the aorta, ventricular septal defect and auricular septal defect) for which she was operated on in 1976, 1983 and 1984. When she was 20 years old, latero aortic pheochromocytoma was diagnosed. At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "café-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.

Abnormalities, Multiple↗

PubMed1995

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?: We present a nine-month-old boy with microcephaly, cataracts, intracerebral calcification, dysmorphic facial signs, and a clinical course resembling a congenital intrauterine infection. The serological screening for connatal infections repeatedly was negative. Patients with congenital infection-like syndrome previously described showed similar clinical features. The recurrence of the disease in sibships suggests autosomal recessive inheritance. We add a possibly new patient with this condition, review the literature, and demonstrate the difficulties in making the diagnosis of an infection-like syndrome in a single patient.

Abnormalities, Multiple↗

PubMed1997

Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.

We report on six new families (12 new patients) with the syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. The most common findings were hand abnormalities, microcephaly, short and/or narrow palpebral fissures, broad nasal bridge, anteverted nostrils, ear abnormalities, and micrognathia. Inheritance is autosomal dominant. There is a significant amount of intrafamilial variability especially as it relates to the gastrointestinal findings. Although the first patients reported, who were very young, did not exhibit any developmental delay, they subsequently did develop learning problems, and 87% of our 12 patients had mental retardation or learning difficulties.

Abnormalities, Multiple↗

PubMed1998

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects.

We describe two female fetuses conceived by a nonconsanguineous couple. The pregnancies were interrupted at 31 and 26 weeks of gestation, respectively, because of severe microcephaly. Postmortem X-ray and autopsy studies showed in both fetuses: 1) severe intrauterine growth retardation; 2) facial anomalies characterized by severe microcephaly, sloping forehead, low set and posteriorly angulated ears, prominent eyes, down-slanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; 3) severe brain hypoplasia that was more pronounced in the second fetus; 4) severe rib hypoplasia with posterior rib-gap defects and in case 2 hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); 5) contracture at large joints. No other visceral malformations were observed, and chromosomes were normal in patient 2 and parents. This phenotype has some similarities with different syndromic entities but an identical malformation syndrome seems not to have been described previously. Autosomal recessive inheritance is the most likely cause of this putative "new syndrome."

Abortion, Induced↗

PubMed1997

Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?

We present four patients-two boys and their mother and an unrelated girl-with microcephaly, normal intelligence, and digital abnormalities. The hand abnormalities are characterized by brachydactyly with radial clinodactyly of the fourth and fifth fingers, ulnar clinodactyly of the second fingers, and an increased space between the second and third fingers associated with an abnormal palmar crease that extends to the ulnar border. The foot abnormalities include short toes with syndactyly of the fourth and fifth toes. The mother has normal intelligence, and her sons and the unrelated girl have normal development. Although similar digital abnormalities, microcephaly, and normal intelligence were described by Feingold in patients with gastrointestinal atresia, we think that our patients' findings represent a different condition. The most likely mode of inheritance is autosomal dominant. The clinical recognition of this syndrome will allow for appropriate genetic counseling as well as provision of information on natural history, i.e., normal intelligence.

Abnormalities, Multiple↗

PubMed2002

Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case.

We report on a 11-year-old girl with bilateral choanal stenosis, hypothelia, hearing loss, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly. Only three individuals with choanal atresia from a consanguineous family have been reported. One of the patients also had hypoplastic nipples, hypotonia, and delay in speech development. Similar clinical features were seen in two children reported by Greenberg [1987: Am J Med Genet 28:931-934] and Wilson et al. [1998: Am J Med Genet 75:220-222]. They were prenatally exposed to methimazole because of maternal Graves disease. Neck fistulas and microcephaly noted in our patient were not previously reported as features of the syndrome or in the patients prenataly exposed to methimazole. Our patient and those reported by Qazi et al. [1982: Am J Med Genet 13:413-416] most probably have a rare syndrome characterized by this distinctive combination of symptoms. Prenatal exposure to methimazole can cause a phenocopy of the syndrome, which was probably the case in the patients reported by Greenberg and Wilson et al.

Abnormalities, Multiple↗

PubMed2005

The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein.

Homozygous mutations in the abnormal spindle-like, microcephaly-associated ASPM gene are the leading cause of autosomal recessive primary microcephaly. ASPM is the putative human ortholog of the Drosophila melanogaster abnormal spindles gene (asp), which is essential for mitotic spindle function. Here, we report that downregulation of endogenous ASPM by siRNA decreases protein levels of endogenous BRCA1. ASPM localizes to the centrosome in interphase and to the spindle poles from prophase through telophase. These findings indicate that ASPM may be involved in mitotic spindle function, possibly, through regulation of BRCA1.

Animals↗

PubMed1977

A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

We describe a syndrome of microcephaly, with extreme failure to thrive, (severe spasticity), kyphoscollosis, cataracts, and hip dysplasia in four siblings. The syndrome could be a new one, although it has several features resembling those described by Lowry et al. It is suggested that this syndrome is inherited as an autosomal-recessive condition.

Adult↗