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PubMed1990

Electroretinograms in microcephaly with chorioretinal degeneration.

We recorded full-field electroretinograms from a family with two daughters with microcephaly and chorioretinal degeneration and a third daughter and mother with microcephaly without chorioretinal degeneration. The two siblings with inferior chorioretinal degeneration showed electroretinographic responses to 0.5-Hz white light that were reduced 60% to 70% below normal, suggesting that the loss of photoreceptor function exceeded the areas of visible atrophy. The mother and third daughter had normal electroretinograms. The two siblings, ages 12 and 21 years, had virtually the same electroretinographic amplitudes. In a second family, a man with microcephaly and inferior chorioretinal degeneration, examined at ages 9 and 23 years, also showed 60% to 70% reduction in electroretinographic responses to 0.5-Hz white light and showed no change in amplitudes over the 14-year interval. These findings suggest that the chorioretinal degeneration sometimes associated with microcephaly is stable in young adult life, although the long-term prognosis remains to be defined.

Adolescent↗

PubMed2000

Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes.

OBJECTIVE: A cohort of women with phenylketonuria (PKU) were selected to explore the impact of phenylalanine (Phe) levels and other factors on congenital heart defects (CHDs), microcephaly, and development of their offspring. STUDY DESIGN: Three hundred fifty-four women with PKU were followed up weekly with diet records, blood Phe levels, and sonograms obtained at 18 to 20 and 32 weeks' gestation. At birth, 413 offspring were examined and followed up at 6 months and annually by means of Bayley Mental Developmental Index and Psychomotor Developmental Index tests at 1 and 2 years. The women had Wechsler Adult Intelligence Scales and DNA testing. RESULTS: Thirty-one offspring had CHDs; of these, 17 also had microcephaly. Mean Phe levels at 4 to 8 weeks' gestation predicted CHDs (P <.0001). An infant with a CHD had a 3-fold risk of having microcephaly when the mother had higher Phe levels (P =.02). The Bayley Mental Developmental Index and Psychomotor Developmental Index scores correlated with both CHDs (P =.037 and.0015, respectively) and microcephaly (P =.0001 for both). No direct relationship to the PKU mutation was found. CONCLUSION: None of the women whose offspring had CHDs had blood Phe levels in control during the first 8 weeks of gestation. Women with PKU need to be well controlled on a low-phenylalanine diet before conception and throughout pregnancy.

Adult↗

PubMed1998

Microcephaly--no small deal.

Anatomic shortening of the fetal frontal lobe seems to precede microcephaly. Brain size determines the size of the calvarium. The report by Pilu and colleagues provides a physiological basis for recent anatomical observations made regarding microcephaly. Biometry of the frontal lobe of the fetal brain may be a valuable tool for the identification of the fetus at risk for microcephaly. A thorough investigation of the subtle brain anatomy of the developing fetus is necessary in suspicious cases. Prenatal studies have suggested that abnormalities of neurocranial architecture occur in approximately two-thirds of cases. Steinlin and colleagues found a much higher incidence in children (90%) affected by microcephaly. Either the progressive nature of the condition or the improved sensitivity of childhood magnetic resonance imaging (used in their study) over prenatal ultrasonography for the detection of subtle brain abnormalities may account for this difference. However, high-resolution ultrasonographic instruments should allow for the detection of many accompanying neuroanatomic abnormalities, possibly before the markedly small calvarium is seen. Finally, Pilu and colleagues have shown that the underlying conditions that may predispose to brain atrophy may be recognizable with Doppler ultrasonography.

Female↗

PubMed1995

On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association.

We describe a male child with prenatal growth retardation, true microcephaly, pedal lymphoedema and characteristic ocular anomalies. Ophthalmological examination revealed remnants of the posterior hyaloidea, more pronounced in the right eye where a retinal fold extended from the papilla into the vitreum, chorioretinal dysplasia with narrow retinal vessels, multiple large round areas of chorioretinal atrophy and atrophic papillae. The associations "Microcephaly-chorioretinal dysplasia", "Microcephaly-retinal folds" and "Microcephaly-lymphoedema" have been reported as separate autosomal dominant conditions. The findings in the present child suggest that these associations could be variable expressions of the same autosomal dominant condition.

Abnormalities, Multiple↗

PubMed1996

Benign external hydrocephalus in a boy with autosomal dominant microcephaly.

In a 3-month-old boy with microcephaly, magnetic resonance imaging (MRI) revealed accumulation of bifrontal extracerebral fluid. Because of the typical MRI findings and the disappearance of these findings later on, he was diagnosed as a case of benign external hydrocephalus. Both his mother and maternal grandmother had microcephaly, without neurological or dysmorphic manifestations. The pedigree is most consistent with an autosomal dominantly inherited microcephaly. This seems to be the first report of benign external hydrocephalus found in a patient with an autosomal dominant microcephaly.

Adult↗

PubMed1988

Autosomal dominant isolated ('uncomplicated') microcephaly.

A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped generation'. There is considerable variation in the phenotypic expression of autosomal dominant microcephaly. This isolated (uncomplicated) type of microcephaly should be distinguished from other well defined, dominantly inherited forms of microcephaly.

Cephalometry↗

PubMed1989

Clinical follow-up of prenatally diagnosed isolated ventriculomegaly, microcephaly and encephalocele.

This retrospective review identified all cases of isolated ventriculomegaly (without spina bifida), encephalocele and microcephaly in approximately 22,000 consecutive patients through the Ultrasound Department at the University of British Columbia, Grace Hospital. 17 cases of isolated ventriculomegaly, 16 cases of microcephaly and 6 cases of encephalocele were identified. Isolated ventriculomegaly and encephalocele were accurately diagnosed prenatally while microcephaly was not consistently identified prenatally. Patients with isolated ventriculomegaly had a positive family history for cranial abnormalities in 24%. The prognosis is difficult to predict for fetuses with ventriculomegaly, but severe ventriculomegaly generally produced a poor outcome while mild or moderate ventriculomegaly resulted in normal development or marginal developmental delay. Chromosome analysis is recommended in all patients with central nervous system lesions and viral studies are recommended with ventriculomegaly and microcephaly.

Brain↗

PubMed2003

Value of electrodiagnostic assessment in nonsyndromic microcephaly.

PURPOSE: To evaluate the value of electroretinogram (ERG) and visual evoked potentials (VEP) in children with nonsyndromic microcephaly. METHODS: In this observational case series, six children with nonsyndromic microcephaly aged 8.5 to 158 months were examined. Main outcome measures included the amplitude of the flash ERG (photopic, flickering, scotopic, and dark-adapted responses), the amplitude and latency of the VEP (flash or pattern-reversal stimulus), visual acuity, slit-lamp biomicroscopy, and indirect ophthalmoscopy. RESULTS: Three children demonstrated normal fundus appearances, ERG, and VEP responses: two in this group demonstrated poor vision and brain computed tomography in the third showed schizencephaly. The remaining three children demonstrated abnormal ERG with predominant reduction in photopic amplitudes. Retinal pigmentary granularities were detected in two children in this group, one of whom has poor vision, generalized brain atrophy, and 40% reduction in VEP amplitudes. CONCLUSIONS: Abnormal ERG is not uncommon among children with nonsyndromic microcephaly. Although cone photoreceptors are affected more than rods, this does not anticipate poor vision. It appears that defects in posterior visual pathway or developmental malformations of the brain should be responsible for poor visual function in nonsyndromic microcephaly.

Atrophy↗

PubMed1999

Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.

We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or may reflect one of at least three syndromes: Galloway-Mowat, a second syndrome of microcephaly, nephrotic syndrome and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental delay, and spondylorhizomelic short stature.

Developmental Disabilities↗

PubMed1976

[Genetic analysis of microcephaly].

A clinical genetic examination of 22 cases of hereditary microcephaly in 11 families was carried out. Parent consanguinity (first and second cousins) was ascertained in 7 families. Genetic analysis of the experimental material performed by Weinberg's method showed significantly recessive course of the genuine microcephaly inheritance. High frequency of low degree mental retardation (30%) among probable recessive genes carriers of microcephaly (of the parents and their siblings) was ascertained and that confirmed the possibility of gene heterozygous state manifestation. The gene frequency fluctuated from 0,0042 to 0,024. About 3500 people might show low forms of mental retardation in connection with probable non-penetration (about 30%) of the microcephaly genes being in heterozygols state.

Consanguinity↗

PubMed1986

Microcephaly and congenital cytomegalovirus infection: a combined prospective and retrospective study of a Swedish infant population.

Microcephaly and its etiology were studied in an unselected Swedish urban infant population. Virtually, all live-born infants (14,724) born between October 1977 and December 1983 in the city of Malmö, Sweden, were included in the study. Special attention was given to the role of congenital infections, particularly to cytomegalovirus infection. The infant population was studied from two points of view. One part of the study was prospective and based on regular cytomegalovirus isolation in urine within the first week of life. About 80% of the newborns were adequately studied by this test. None of 56 infants shown to be cytomegalovirus excreters (congenitally infected) and followed up were born with or developed microcephaly (head circumference smaller than 3 SD below the mean for age and sex) during the first 1 to 7 years of life. However, two of the 56 infants had a head circumference of -2 SD. In the beginning of 1985, an inventory was made of the presence of symptomatic microcephaly in the above mentioned population still living in the city or deceased there. Of about 10,000 such children, 12 were found to have symptomatic microcephaly. By studies of personal, clinical, and laboratory data and by retrospective serologic studies of frozen pre- and postconceptional maternal sera, a possible explanation or a recognized syndrome was obtained in ten of the 12 cases. In one of them, the mother had a primary cytomegalovirus infection, possibly in early pregnancy. Although the infant had symptoms compatible with a congenital infection, no laboratory evidence of transmitted infection was found. In no case were congenital rubella virus or Toxoplasma gondii infections suspected.

Antibodies, Viral↗

PubMed1987

A prospective study of the accuracy of ultrasound in predicting fetal microcephaly.

A prospective study of the diagnostic accuracy of ultrasound in the prediction of fetal microcephaly was performed on a study population of 24 patients. An occipitofrontal diameter larger than the predicted mean -2 standard deviations (SD), a head perimeter larger than the predicted mean -2 SD, and a head perimeter/abdominal perimeter larger than the predicted mean -1 SD were found to exclude fetal microcephaly. An occipitofrontal diameter smaller than the predicted mean -4 SD, a head perimeter smaller than the predicted mean -5 SD, a head perimeter/abdominal perimeter smaller than the predicted mean -3 SD, and a femur length/head perimeter larger than the predicted mean +3 SD were found to cause no errors in the diagnosis of microcephaly. If neither of these two groups of tests is satisfied, fetal microcephaly cannot be reliably diagnosed or excluded on the basis of a single ultrasound examination.

Anthropometry↗

PubMed2024

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

BACKGROUND: Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP binding domain-containing 2 (EFTUD2) gene variants, respectively. The coexistence of two distinct Mendelian disorders in a single individual is uncommon and challenges the traditional paradigm of a single genetic disorder explaining a patient's symptoms, opening new avenues for diagnosis and management. CASE PRESENTATION: We present a case of a female patient initially diagnosed with achondroplasia due to a maternally inherited pathogenic FGFR3 variant. She was referred to our genetic department due to her unusually small head circumference and short stature, which were both significantly below the expected range for achondroplasia. Additional features included distinctive facial characteristics, significant speech delay, conductive hearing loss, and epilepsy. Given the complexity of her phenotype, she was recruited to the DDD (Deciphering Developmental Disorders) study and the 100,000 Genomes project for further investigation. Subsequent identification of a complex EFTUD2 intragenic rearrangement confirmed an additional diagnosis of mandibulofacial dysostosis with microcephaly (MFDM). CONCLUSION: This report presents the first case of a dual molecular diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly in the same patient. This case underscores the complexity of genetic diagnoses and the potential for coexistence of multiple genetic syndromes in a single patient. This case expands our understanding of the molecular basis of dual Mendelian disorders and highlights the importance of considering the possibility of dual molecular diagnoses in patients with phenotypic features that are not fully accounted for by their primary diagnosis.

Humans↗

PubMed1980

A case of adult microcephaly.

A microcephalic woman who walked, spoke a few words, and was capable of some self-care, died at age 20. The brain weighed 260 g--the equivalent of that of an infant of eight months' gestation. The remarkable neuropathological features in our case included very small cerebral hemispheres, normal cerebral cortex, myelinated white matter, and large neuronal heterotopias situated along the ventricular walls and deep in the white matter adjacent to the intact nuclei of the basal ganglia, amygdala, and thalamus. The brainstem and cerebellum were relatively less reduced in size and showed normal structure and no heterotopias. In rats, microcephaly can be induced experimentally by giving carcinogens during sensitive periods of embryogenesis. Here, the microcephaly appears to result from necrosis of the neuroblasts lining the ventricles, and from a concomitant reduction in DNA synthesis. The pathogenesis of the microcephaly in our patient and others remains undefined. Our study shows that a great discrepancy may exist between brain size and level of function.

Adult↗

PubMed1981

Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.

We have observed an apparently new, heritable syndrome consisting of severe microcephaly, microphthalmia, falciform retinal folds, and blindness. Two brothers were affected with these problems. The mother, while she has no ocular malformations, has severe microcephaly and mild mental retardation. The only other offspring of the parents, a boy, is normal. Laboratory evaluation of the affected sibs was uninformative. An environmental cause of this condition has been sought, but none has been identified. Possible modes of inheritance include autosomal dominant inheritance with variable expressivity, X-linked recessive inheritance with partial expression in the mother, or autosomal recessive inheritance that is etiologically unrelated to the mother's microcephaly.

Abnormalities, Multiple↗

PubMed1987

Autosomal dominant microcephaly without mental retardation.

We describe six Italian families affected by microcephaly with an apparently autosomal mode of inheritance (total number of microcephalic children and adults, 21). All microcephalic subjects were of normal height, with the exception of one. The head volume was measured directly in at least one adult microcephalic member from five of the six families, and lower values were obtained in these subjects than in control subjects. Psychometric tests were performed on seven children and five adults among the microcephalic subjects. Normal values were found for all but one of the subjects. In the selected families microcephaly seems to be inherited in an autosomal dominant manner. Because some families showing autosomal dominant microcephaly have normal intelligence, psychometric evaluation of microcephalic children and their microcephalic relatives is important for genetic counseling.

Adult↗

PubMed1999

Microcephaly with simplified gyral pattern in six related children.

We describe clinical and neurophysiological findings in six related children with congenital microcephaly, seizures that began within the first 2-4 months of life, and severe mental retardation (MR). These affected children (five girls and one boy), born to two women who are half-sisters, inherited the disease as an autosomal recessive trait. Physical examination of these children did not show any of the anomalies in the known cortical malformation syndromes such as lissencephaly types I and II. Neuroradiological studies in these children documented microcephaly and a simplified gyral pattern with no pachygyria. Chromosomal analysis showed neither karyotypic abnormalities nor a microdeletion at 17p13.3, site of the lissencephaly type I gene locus (LIS1). Genetic studies failed to show linkage of this family to LIS1, LIS2 (a region on chromosome 2p homologous to LIS1), or MCPH1 (a locus for primary autosomal recessive microcephaly). The unique clinical and genetic findings in this family suggest that these children may be affected by an as-of-yet unmapped neuronal proliferation disorder.

Adolescent↗

PubMed1992

Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

We report on 2 unrelated patients with microcephaly, lymphedema, and chorioretinal changes. They are compared with previously reported patients with microcephaly and lymphedema and microcephaly with chorioretinal changes. The question is raised whether all of these patients represent one entity or are separate syndromes. Until more data are available we propose that our patients represent a single entity.

Child↗