Agenesis Of Cerebellar Vermis Research Articles

Rhombencephalosynapsis: Association with single umbilical artery

A 6-year-old girl who presented with developmental delay and non-progressive ataxia is described. MRI of brain showed agenesis of cerebellar vermis with fusion of cerebellar hemispheres and dentate nuclei. MRI findings were characteristic of rhombencephalosynapsis. Partial agenesis of corpus callosum and absent septum pellucidum were also seen. The child had also been noted to have a single umbilical artery at birth: a hitherto undescribed association.

The role of 99mTc DMSA renal scintigraphy in Joubert syndrome

Joubert syndrome is a severe autosomal recessive disorder, which is characterized by hypotonia, impaired psychomotor development, retinal dystrophy with abnormal ocular movements and cerebellar vermis agenesis with dilatation of the fourth ventricle. Joubert syndrome type B is a developmental disorder of the nephronophtisis complex with multiple organ involvement. Although this syndrome is rare, since first described by Joubert et al in 1969, there have been several cases about the components and the chromosomal abnormalities related with it. Here we report 2 patients with Joubert syndrome in whom renal involvement was demonstrated by ultrasonography as renal cystic disorders which represented nephronophtisis. For each patient we performed renal cortical scintigraphy with 99mTc-DMSA ( 99mtechnetium-dimercaptosuccinic acid) which showed bilaterally decreased radiopharmaceutical uptake in kidneys due to tubulointerstitial nephropathy. Scintigraphy may have a great value in the diagnosis and evaluation of the presence and severity of renal involvement in Joubert syndrome since it can evaluate kidney parenchyma and functioning renal tissue.

A LARGE ASYMPTOMATIC DANDY WALKER CYST IN AN INFANTRY SOLDIER.

A LARGE ASYMPTOMATIC DANDY WALKER CYST IN AN INFANTRY SOLDIER.

Evidence for the ?midline? hypothesis in associated defects of laterality formation and multiple midline anomalies

A male infant was liveborn at 38 weeks of gestation to a G4P1AB2, 22-year-old, mother. Polyhydramnios and multiple congenital anomalies were noted by ultrasonography; the infant died 5 min after birth. At autopsy, the infant had multiple defects of blastogenesis including midline anomalies with asplenia and abnormalities of laterality formation. The laterality defects were unusual in that they combined asplenia with hypoplastic, symmetrically unilobate lungs and bilateral hyparterial bronchi more consistent with polysplenia, abdominal situs inversus with midline stomach, symmetric liver, and left gallbladder. No intracardiac abnormalities were present, but there was azygous continuation of the inferior vena cava. Additional multiple midline defects included bronchoesophageal fistula, duodenal atresia, absence of posterior leaf of diaphragm; horseshoe adrenal gland; microcephaly; Dandy-Walker anomaly with agenesis of cerebellar vermis and occipital encephalocele; holoprosencephaly with orbital encephalocele, midline defect of the orbital plate of the skull, bilateral anophthalmia, double proboscis with bilateral choanal atresia, midline upper lip and palatal cleft; single-lobed thyroid; hypoplastic external genitalia with midline cleft of scrotum, long tapering fingers, and defects of the cranium at the sites of orbital and occipital encephaloceles. Defects of laterality frequently are associated with other complex midline anomalies, which both result from a disturbance of pattern formation during blastogenesis, i.e., the induction of the progenitor fields. The latter are the result of the establishment of upstream expression domains of growth and transcription factors and other morphogens. Many of these and other genetic systems, expressed asymmetrically around the midline, are responsible for laterality formation and are the result of upstream and subsequent downstream gene expression cascades through the expression of genes such as HOX genes; bFGF; transforming growth factor beta/activins/BMP4; WNT-1,8; and SHH.

F78Three‐dimensional sonographic features of fetal central nervous system anomaly

BackgroundOur aim was to visualize an intracranial structure of the fetal central nervous system (CNS) anomaly using transabdominal three‐dimensional (3D) sonography.MethodsA total of 18 cases with fetal cns anomalies (one unilateral ventriculomegaly; 6 hydrocephalus; 3 anencephaly; 4 holoprosencephaly; one Dandy‐Walker cyst; and 3 enlarged cisterna magna) from 17 to 37 weeks of gestation were studied with transabdominal 3D sonography (3.5 MHZ).ResultsIn unilateral ventriculomegaly, insight view of dilated lateral ventricle, especially dilated atrium was depicted. In hydrocephalus, severely dilated bilateral ventricles and thin brain mantle were beautifully shown. In anencephalus, an absence of the brain and defect of the vault of the skull was clearly noted. In holoprosencephaly, absent interhemispheric fissure, common ventricle, and the extent of thalamic fusion were evident. In Dandy‐Walker cyst, cerebellar hemisphere was clearly depicted due to the agenesis of cerebellar vermis. In enlarged cisterna magna, posterior intracranial view of the fetus showed a large space of cisterna magna. Although the diagnosis of each CNS anomaly was made using conventional two‐dimensional sonography, 3D sonography proved most helpful delineating the exact nature and anatomic level of the anomaly.ConclusionOur results suggest that 3D sonography provides a novel means of visualizing fetal CNS anomalies in utero.

Three‐dimensional sonographic features of fetal central nervous system anomaly

To visualize an intracranial structure of the fetal central nervous system (CNS) anomaly using transabdominal three-dimensional (3D) sonography. A total of 12 cases with fetal CNS anomalies (one unilateral ventriculomegaly; three hydrocephalus; three anencephaly; three holoprosencephaly; one Dandy-Walker cyst; and one enlarged cisterna magna) from 17 to 37 weeks of gestation were studied with transabdominal 3D sonography (3.5 MHz). In unilateral ventriculomegaly, insight view of dilated lateral ventricle, especially dilated atrium was depicted. In hydrocephalus, severely dilated bilateral ventricles and thin brain mantle were very clearly shown. In anencephalus, an absence of the brain and defect of the vault of the skull was clearly noted. In holoprosencephaly, absent interhemispheric fissure, common ventricle, and the extent of thalamic fusion were evident. In Dandy-Walker cyst, cerebellar hemisphere was clearly depicted due to the agenesis of cerebellar vermis. In enlarged cisterna magna, posterior intracranial view of the fetus showed a large space of cisterna magna. Although the diagnosis of each CNS anomaly was made using conventional two-dimensional sonography, 3D sonography proved most helpful delineating the exact nature and anatomic level of the anomaly. These results suggest that 3D sonography provides a novel means of visualizing fetal CNS anomalies in utero. However, it should be noted that our 3D sonography cannot depict intracranial brain structures in normal fetuses or some CNS anomaly such as intracranial tumor.

Coexistence of Gaucher disease type 1 and Joubert syndrome.

Editor—Van Royen-Kerkhof et al 1 reported two boys with Gaucher disease type 1 and Joubert syndrome (JS). Their case 1 had, in addition to mental retardation, choreoretinal colobomas, cerebellar vermis...

Microcephaly with chorioretinal degeneration

PURPOSE : To describe the ophthalmologic findings and electroretinograms in patients with microcephaly and chorioretinal degeneration. METHODS : We reviewed the hospital records of 20 patients with microcephaly that was not part of a recognizable syndrome prior to initial referral to the institutional consultative practice of one of the authors (RGW). Twelve patients, all from separate families, were diagnosed as having microcephaly with chorioretinopathy. Ten of these patients had ISCEV-standard electroretinograms (ERG). RESULTS : No family history of microcephaly or retinal degeneration was found in any of our patients. Three patients had another family member with mental retardation. Three of the 12 were compatible with the autosomal dominant form of microcephaly with chorioretinopathy (MIM 156590), possibly as a new mutation. Eight patients, who had fundus findings of retinitis pigmentosa, were similar to the autosomal recessive form of microcephaly with chorioretinal degeneration (MIM 251270). The ERGs were moderately to severely subnormal for responses of both rods and cones. The retinal findings varied from no pigmentary changes, pigment clumping and bone spicules, pigmentary granularity, bull's eye maculopathy, choroidal and retinal atrophy, to lacunar depigmentation. Mental retardation was mild to profound. The abnormal findings from MRI/CT brain scans (8 patients) were cerebellar atrophy (2), agenesis of cerebellar vermis (1), cortical atrophy (1), and pachygyria (1). Dysmorphic features were present in most patients. Chromosome studies were normal, except for one patient with ring chromosome 14. CONCLUSIONS : Although the patients reviewed in this study represent a heterogeneous group of disorders, ocular abnormalities, especially retinal degeneration, are frequent among patients with microcephaly.

Cerebro‐reno‐digital syndrome in two sibs

We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro-reno-digital syndromes. Autosomal recessive inheritance is suggested.

先天盲・腎硬化症・小脳虫部欠損を示した1剖検例

先天盲・腎硬化症・小脳虫部欠損を示した1剖検例