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PubMed1998

Prenatal diagnosis of microcephaly assisted by vaginal sonography and power Doppler.

In two mid-trimester fetuses with microcephaly, transvaginal sonography revealed aberrant findings, including large subarachnoid spaces and a rudimentary shape of the lateral ventricles. In one of these fetuses, power Doppler ultrasound demonstrated a discrepancy in the size of the signals generated by the intracranial arteries branching from the internal carotids and those branching from the vertebral arteries, and this was interpreted as the consequence of a reduced blood supply to the undersized cerebral hemispheres. We suggest that evaluation of intracranial anatomy by transvaginal sonography and power Doppler examination of the cerebral vessels may be of value in the diagnosis of fetal microcephaly.

Abortion, Legal↗

PubMed1991

Contribution of magnetic resonance imaging in the evaluation of microcephaly.

Magnetic resonance imaging (MRI) was performed in 33 children using a 2,35 T MR system. The intention was to determine the various types of morphological abnormalities seen in primary microcephaly and the frequency with which they occur. MRI findings were typical for cytomegalovirus infection in six patients. Cerebral malformations were found in 14 cases and patchy white matter lesions in both hemispheres in two subjects. MRI appeared to be abnormal in eight of the remaining 11 children. However, we were unable to provide an exact interpretation of the findings. All the children with MRI abnormalities with the exception of two were neurodevelopmentally deviant. Thus, MRI revealed abnormalities in the majority of infants with primary microcephaly and neurodevelopmental disturbances. It appears to be more sensitive than cranial ultrasound and computed tomography.

Brain↗

PubMed1993

MRI of the head in the evaluation of microcephaly.

Fifty-five patients with microcephaly (head circumference < -2SD) were identified. The 55 patients were divided into two groups, consisting of group 1 (34 cases) in which genetic causes were considered primary, and group 2 (21 cases) in which intrauterine and/or postnatal acquired factors were thought to be responsible. MRI abnormalities were present in 80% of the total series: 68 and 100% in groups 1 and 2, respectively. In group 1, migration abnormalities were the most prominent and mental retardation was the major neurological handicap, while in group 2, hydranencephaly and infarction secondary to brain circulatory derangements were the most frequently observed abnormalities, with severe multiple handicaps such as cerebral palsy, epilepsy and mental retardation seen. Head MRI was considered indispensable in the investigation of the causes of microcephaly and in determining the neurological prognosis of affected patients.

Agenesis of Corpus Callosum↗

PubMed1999

Microcephaly with normal intelligence, and chorioretinopathy.

An 18-year-old girl had microcephaly without mental or neurological disabilities. She had hypoplastic mandible, long cup-shaped ears, bilateral incurved little fingers, bilateral retinal pigmentation, and scattered areas of depigmentation as well as a history of osteochondroma. However, genetic test for mutation analysis of exon 15 of the APC gene showed negative results. To the best of our knowledge, this is the third case to be reported with microcephaly, normal intelligence, and bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE).

Adenomatous Polyposis Coli Protein↗

PubMed2000

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Primary autosomal recessive microcephaly is a clinical diagnosis of exclusion in an individual with a head circumference >/=4 SDs below the expected age-and-sex mean. There is associated moderate mental retardation, and neuroimaging shows a small but structurally normal cerebral cortex. The inheritance pattern in the majority of cases is considered to be autosomal recessive. Although genetic heterogeneity for this clinical phenotype had been expected, this has only recently been demonstrated, with the mapping of two loci for autosomal recessive primary microcephaly: MCPH1 at 8p and MCPH2 at 19q. We have studied a large multiaffected consanguineous pedigree, using a whole-genome search, and have identified a third locus, MCPH3 at 9q34. The minimal critical region is approximately 12 cM, being defined by the markers cen-D9S1872-D9S159-tel, with a maximum two-point LOD score of 3.76 (recombination fraction 0) observed for the marker D9S290.

Chromosome Mapping↗

PubMed2000

Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.

Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with a maximum multipoint LOD score of 3.51 at marker D1S1723, in a family of Turkish origin. The minimal critical region spans 11.4 cM between markers D1S384 and D1S2655, at 1q25-q32, and encompasses the cytogenetic breakpoints of chromosomal aberrations previously reported in unrelated patients with microcephaly.

Adult↗

PubMed1998

The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family.

We describe a Bedouin family with the rare autosomal recessive infection-like syndrome of microcephaly, intracranial calcification and CNS disease that has so far been documented in only eight families including one from Kuwait. In the present family, the female proband had congenital microbrachycephaly, hypertonia, early-onset tonic-clonic seizures, a palpable liver and mild pulmonary stenosis. Follow-up examination of the girl identified delayed developmental milestones while head CT scan revealed partial agenesis of the corpus callosum, brain atrophy, dilated ventricles and scattered calcific foci in the caudate nuclei, the thalami, and the periventricular white matter. The possibility of intrauterine TORCH infection was excluded by the negative results of repeated immunovirology study and by the failure to recover viral inclusions in urine cultures. The proband had three apparently affected cousins with spasticity and CT findings of microcephaly and intracranial calcification. Other previously documented cases with the congenital intrauterine infection-like syndrome are reviewed.

Abnormalities, Multiple↗

PubMed2000

Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, but much less severe microcephaly and a different type of movement disorder with later onset [Tomiwa K et al. (1987). Neuropediatrics 18:231-234]. An extensive literature search did not reveal any other reports of patients with a similar condition. We discuss the differential diagnosis.

Abnormalities, Multiple↗

PubMed2001

Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.

We present four cases with nephrotic syndrome, microcephaly and severe developmental delay. In the differential diagnosis the Galloway-Mowat syndrome, PEHO syndrome, ARC syndrome and the carbohydrate-deficient glycoprotein (CDG) syndrome are considered and discussed. One case may fall into the Galloway-Mowat spectrum and another case was diagnosed with the CDG syndrome. This case is the third report of a nephrotic syndrome as a part of the CDG syndrome. Two remaining cases with cerebellar and brain stem atrophy, and without major histopathological changes in the kidney were left without a definite unifying diagnosis and may well represent a different unknown condition. Although microcephaly and nephrotic syndrome with or without hiatus hernia has been equated with Galloway-Mowat syndrome in the literature, the brain and renal pathology in these reported cases has been very variable. It is likely that this group as a whole is aetiologically heterogeneous.

Congenital Disorders of Glycosylation↗

PubMed1981

Dominant inheritance of microcephaly with short stature.

A family is reported in which microcephaly has been observed in at least three generations. The pedigree is most consistent with autosomal dominant inheritance. In addition to microcephaly, affected individuals exhibit significantly short stature, ocular anomalies and simple, protruding ears. Intellectual function is in the normal or borderline range.

Female↗

PubMed1983

Silent microcephaly: a distinct autosomal dominant trait.

Thirteen patients from three unrelated families were found to have microcephaly, without any neurological or dysmorphic manifestations. Autosomal dominant inheritance is concluded since the trait was transmitted directly in all three families, including one male-to-male instance. The recognition of this uncomplicated form of microcephaly as a Mendelian trait further extends its etiological heterogeneity.

Adult↗

PubMed1987

Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son.

We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low-set, cup-shaped ears, thick, protruding lower lip, micrognathia, and mental retardation. We conclude that these patients have a previously undescribed type of genetic microcephaly. The mother has become normocephalic and we would not have been able to diagnose her condition without her childhood photographs. Such photographs are essential in the recognition of familial syndromes.

Abnormalities, Multiple↗

PubMed1991

Dominantly inherited microcephaly, hypotelorism and normal intelligence.

A family with dominantly inherited microcephaly, hypotelorism and normal intelligence is described. Their facial appearance is very similar, with malar hypoplasia. Psychometric testing in two generations revealed normal intelligence. Cranial CT scans showed no evidence of abnormality. This reports emphasises the need for family and psychometric studies in uncomplicated microcephaly.

Adult↗

PubMed1992

Autosomal recessive microcephaly with early onset seizures and spasticity.

We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of congenital microcephaly. The clinical syndrome is characterized by early onset myoclonic seizures, spasticity, and profound psychomotor retardation without detectable brain malformations. To date, only two kindreds and one sporadic case with a similar clinical picture have been observed and reported (Tolmie et al. 1987, Bundey & Griffiths 1977). The severity of the neurological features and their perinatal onset differentiate the syndrome from the more common autosomal recessive microcephaly with spasticity/seizures.

Child, Preschool↗

PubMed1996

Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome.

We report on a 4-year-old boy with short stature, microcephaly, BNS (Blitz-Nick-Salaam) seizures, and global developmental delay. In addition, small and fleshy hands and feet as well as hypoplastic scrotum and testes were observed. The clinical features of the patient are compared with the patients previously described by Wiedemann et al. and Nevin et al. They reported three patients with a syndrome characterized by short stature, microcephaly, global developmental delay, abnormalities of hands and feet, seizures, large anterior fontanelle, scrotal hypoplasia, micropenis, cryptorchism, urinary tract abnormalities, and inguinal hernia (Wiedemann syndrome).

Abnormalities, Multiple↗

PubMed2004

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.

Patients with primary microcephaly, an autosomal recessive trait, have mild to severe mental retardation without any other neurological deficits. It is a genetically heterogeneous disorder with six known loci: MCPH1 to MCPH6. Only the genes for MCPH1 and MCPH5 have been identified so far. We have ascertained nine consanguineous families with primary microcephaly from India. To establish linkage of these nine families to known MCPH loci, microsatellite markers were selected from the candidate regions of each of the six known MCPH loci and used to genotype the families. The results were suggestive of linkage of three families to the MCPH5 locus and one family to the MCPH2 locus. The remaining five families were not linked to any of the known loci. DNA-sequence analysis identified one known (Arg117X) and two novel (Trp1326X and Gln3060X) mutations in the three MCPH5-linked families in a homozygous state. Three novel normal population variants (i.e., c.7605G > A, c.4449G > A, and c.5961 A > G) were also detected in the ASPM gene.

DNA Mutational Analysis↗

PubMed1987

The dilemma in prenatal diagnosis of idiopathic microcephaly.

It is estimated that 20 to 35 per cent of idiopathic microcephaly is hereditary. Common practice dictates that after the birth of such a case, subsequent pregnancies should be monitored ultrasonographically in order to facilitate early antenatal diagnosis, and thus genetic counselling. Two cases are reported to indicate the difficulties encountered. In case 1 head growth appeared to be normal until the 20th week of gestation and then slowed down to 31 cm at birth. In case 2 head growth proceeded normally until the 28th week of gestation; at birth it was 32 cm and over the succeeding months became markedly microcephalic. The accuracy of various ultrasonographic techniques is reviewed, and the limitations are discussed. In the light of these findings it is concluded that reliable prenatal diagnosis of hereditary microcephaly is not available as yet.

Cephalometry↗

PubMed1991

Severe microcephaly associated with congenital varicella infection.

A case of second-trimester congenital varicella infection, in association with isolated microcephaly and severe brain damage, is reported, and cases of classical congenital varicella syndrome are compared on a clinical and immunological basis. This case, together with others cited in the literature, suggests that congenital varicella infection may lead to microcephaly and neurological abnormalities, without the presence of skin lesions. Although first-trimester infection has been considered the most likely to produce congenital abnormalities, the second trimester may be more commonly implicated; indeed there may not be a critical period if varicella causes secondary disruption of differentiated tissues.

Atrophy↗