1/133. 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.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/133. Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.Impaired glucose transport across brain tissue barriers causes infantile seizures, developmental delay and acquired microcephaly. Since the first report in 1991 (De Vivo et al, NEJM, 1991) 17 patients have been identified with the glucose transporter protein syndrome (GTPS). The diagnostic feature of the syndrome is an unexplained hypoglycorrhachia in the clinical setting of an infantile epileptic encephalopathy. We review our clinical experience by highlighting one illustrative case: a 6-year old girl who presented at age 2 months with infantile seizures and hypoglycorrhachia. The CSF/blood glucose ratio was 0.33. dna sequencing identified a missense mutation in exon 7 (C1108T). Erythrocyte GLUT1 immunoreactivity was normal. The time course of 3-O-methyl-glucose (3OMG) uptake by erythrocytes of the patient was 46% that of mother and father. The apparent Km was similar in all cases (2-4 mmol/L), but the apparent Vmax in the patient was only 28% that of the parents (500 versus 1,766 fmol/s/10(6)RBC; p < 0.004). In addition, a 3-month trial of oral thioctic acid also benefited the patient and increased the Vmax to 935 fmol/s/10(6) RBC (p < 3 x 10(-7)). Uptake of dehydroascorbic acid by erythrocytes of the patient was impaired to the same degree as that of 3OMG (Vmax was 38% of that of the mother's), which supports previous observations of GLUT1 being multifunctional. These studies confirm the molecular basis of the GTPS and the multifunctional role of GLUT1. The need for more effective treatment is compelling.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
3/133. Syndrome of microcephaly, Dandy-Walker malformation, and wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition, he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the cerebral hemisphere and pons. cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes, fibroblasts, and bone marrow cells, together with premature centromere division (PCD). Peripheral blood chromosome analysis from his parents also showed PCD, but no aneuploid cells. The clinical phenotype and multiple aneuploidies of the patient may be a consequence of the homozygous PCD trait inherited from his parents. Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with PCD may be a clinically recognizable syndrome with major phenotypes being mental retardation, microcephaly, structural brain anomalies (including Dandy-Walker malformation), and possible cancer predisposition.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
4/133. Radial microbrain form of micrencephaly: possible association with carbamazepine.A premature infant exposed to carbamazepine in utero had a markedly undersized brain on cranial ultrasonogram. Postmortem examination of the brain revealed no evidence of hypoxic-ischemic injury, hemorrhage, infarction, congenital infection, or calcification. The normal cortical gyral pattern, normal residual germinal matrix, and normal cortical lamination suggested the diagnosis of a radial microbrain form of micrencephaly.- - - - - - - - - - ranking = 7keywords = brain (Clic here for more details about this article) |
5/133. Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome?We report on a 3.5-year-old girl with microcephaly, microphthalmia, coloboma of the iris, mild developmental delay, and other minor anomalies. neuroimaging showed marked cerebellar and vermian hypoplasia. This condition has not been described previously and is discussed in the context of the "micro syndrome," together with other similar syndromes. Our case highlights the heterogeneity of the "microphthalmia plus brain malformations" group of patients.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
6/133. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
7/133. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.We describe four Italian patients (aged 3, 4, 12, and 13 years ) affected by a novel autosomal form of recessive congenital muscular dystrophy. These patients were from three non-consanguineous families and presented an almost identical phenotype. This was characterized by hypotonia at birth, joint contractures associated with severe psychomotor retardation, absent speech, inability to walk and almost no interest in their surroundings. In addition, all patients had a striking enlargement of the calf and quadriceps muscles. Ophthalmologic examination revealed no structural ocular abnormalities in any of the children; one patient had severe myopia. In all cases a magnetic resonance imaging of the brain showed an abnormal posterior cranial fossa with enlargement of the cisterna magna and variable hypoplasia of the vermis of the cerebellum. Abnormality of the white matter was also present in all patients, in the form of patchy signal most evident in the periventricular areas. serum CK was grossly elevated in all. The muscle biopsy from all cases showed dystrophic changes compatible with congenital muscular dystrophy. Immunofluorescence studies showed mild to moderate partial deficiency of laminin alpha 2 chain. Linkage analysis in the only informative family excluded the known loci for congenital muscular dystrophy, including laminin alpha 2 chain on chromosome 6q2, the Fukuyama congenital muscular dystrophy locus on 9q3 and the muscle-eye-brain disease on chromosome 1p3. We propose that this represent a novel severe variant of congenital muscular dystrophy, with associated central nervous system involvement.- - - - - - - - - - ranking = 2.7023701007571keywords = brain, central nervous system, nervous system (Clic here for more details about this article) |
8/133. Periodic alternating nystagmus in two children with a similar, unusual phenotype.The report describes two unrelated male children, aged 6 and 8 years, respectively, with congenital periodic alternating nystagmus, congenital strabismus, microcephaly with cortical and cerebellar hypoplasia, mental retardation, low stature, and bat ears. Karyotypes were normal. Neuropediatric and ophthalmologic examinations, radiologic imaging of the brain, and laboratory analyses were performed to exclude other causes of periodic alternating nystagmus, such as ataxia-telangiectasia, acquired disease of the caudal brainstem or the cerebellum, albinism, or loss of vision resulting from cataract or vitreous hemorrhage. The similar morphologic and clinical features of both patients raise the possibility that they have an identical syndrome.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
9/133. Fetal brain disruption sequence in a newborn infant with a history of cordocentesis at 21 weeks gestation.The case is reported of a full term infant with severe microcephaly, overlapping sutures, prominence of the occipital bone, and scalp rugae. No other associated malformations were observed. The only obstetric history of interest was the performance of cordocentesis at 21 weeks gestational age because of low maternal alpha fetoprotein levels. Ultrasound scans performed until then were normal. Cranial growth retardation was detected on ultrasound scanning at 25 weeks and intrauterine growth retardation as well as severe microcephaly at 34 weeks. neuroimaging studies performed on the newborn infant showed intense cerebral atrophy in both hemispheres. Other complementary investigations gave negative results. A relation is proposed between the cordocentesis and the development of vascular disruption, which could have caused the fetal brain disruption sequence in this case.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
10/133. Micro syndrome in Muslim pakistan children.OBJECTIVE: To date, Micro syndrome has been reported in only three children from one family. We describe an additional 14 children from 11 families. DESIGN: Retrospective case series. PARTICIPANTS: Fourteen children from 11 families attending one of five British hospitals. MAIN OUTCOME MEASURES: The following features were documented: pre- and postoperative eye findings, electrophysiologic analysis, systemic abnormalities, development, neuroimaging, genealogy, geographic origin of family. RESULTS: We expand and modify the description of ocular and electrophysiologic findings in Micro syndrome. The eye findings of microphakia, microphthalmos, characteristic lens opacity, and atonic pupils were the presenting feature in all infants and were the most reliable diagnostic signs in the immediate postnatal period. Cortical visual impairment, microcephaly, and developmental delay were not always detectable initially; they developed in all children by 6 months of age. Microgenitalia were a useful diagnostic clue in affected males only. Therefore, eye features were more consistently useful in determining diagnosis than dysmorphology or brain imaging. The families of all the children originate from the Muslim population of Northern pakistan. Inheritance is likely to be autosomal recessive. CONCLUSIONS: Micro syndrome usually presents to the ophthalmologist, who may be able to make the diagnosis on the basis of characteristic eye findings combined with ethnic origin. Initially, the nature and severity of nonophthalmic features are not apparent. early diagnosis of the underlying condition is important to guide management of the cataracts, glaucoma, and developmental delay. It is helpful for the family and medical staff to be aware of the low level of vision that develops despite optimal ophthalmic intervention. genetic counseling extending into the wider family is particularly important in view of the high rate of consanguinity.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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