1/8. A case of Joubert's syndrome with extensive cerebral malformations.Joubert's syndrome is a relatively rare, autosomal-recessive syndrome defined by vermis hypoplasia, hypotonia, developmental delay and at least one of two additional manifestations: abnormal breathing pattern or abnormal eye movements. Detailed descriptions of the neuropathological findings in this syndrome are scarce. We present a radiological and pathological correlation of a case of Joubert's syndrome in which, apart from the classic vermis aplasia and some malformations of the brain stem and the spinal cord, extensive malformations of the cerebrum were found. The dentate nuclei were broken into islands and showed a few heterotopias within the superior cerebellar pedunculi, the inferior olives were plump and dysplastic, and an almost complete absence of the pyramidal decussation was found. In the spinal cord, the dorsal columns were located in a dorsal position within the spinal grey matter. In the cerebrum, absence of the corpus callosum was found. Many nodular heterotopias of the cerebral cortex and of the basal ganglia, the amygdala and the diencephalon were observed. The present case is compared to previous pathological descriptions of the Joubert syndrome and to other syndromes with comparable malformations of the posterior fossa.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |
2/8. Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.Oto-palato-digital syndrome type II (OPD II) is a lethal X-linked skeletal dysplasia with pleiotropic manifestations. The basic defect is not known. There has been only one detailed report of the chondro-osseous abnormalities in this condition describing abnormal periosteal ossification in a single case [1990: Am J Med Genet 36:226-231]. We report on three cases of OPD II emphasizing the chondro-osseous morphology. Although endochondral ossification was normal, periosteal ossification was defective with islands of cortical bone aplasia and hyperplasia of the periosteum. The trabecular bone was also extremely poorly formed and markedly hypercellular. Both membranous ossification and bone remodeling appear to be defective in OPD II and should account for part of the observed phenotype. The biglycan gene maps to Xq28 and is involved in bone formation, but was excluded as a candidate by direct sequencing of cDNA in one case.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |
3/8. Morphologic studies of the placenta and autopsy findings in neonatal-onset glutaric acidemia type II.A case of neonatal-onset glutaric acidemia type II with electron-transfer flavoprotein (ETF) deficiency is presented. The morphological pattern of disease in the male infant included hypospadias, cryptorchidism, bilateral 13 ribs, nuclear cataract, cystic dysplasia of kidneys, lipid accumulation in the liver and renal tubular epithelium, and immature brain with white matter gliosis. The morphologic examination of the placenta revealed features of delayed maturation, including large-for-gestational-age size and abundant immature intermediate villi with cellular syncytiotrophoblast, persistent villous cytotrophoblast, and decreased syncytial knots. In addition, immature intermediate villi showed exaggeration of lacunar interstitial spaces consistent with non-hydropic villous edema. Marked lipid accumulation was seen within extravillous trophoblasts of placental septa and cell islands. light lipid accumulation was also noted within fibroblasts of stem villi. These findings suggest that in glutaric acidemia type II, fatty acid oxidation could also be affected in the placenta.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |
4/8. Heterotopic nephrogenic rests in the colon and multiple congenital anomalies: possibly related association.Heterotopic renal tissue (HRT) in the wall of the colon is a very rare occurrence, with only five cases published. Our patient is only the second patient reported to have this abnormality in the absence of sirenomelia. We describe colonic HRT in a child, associated with multiple congenital anomalies. The congenital abnormalities were of the VACTERL type, accompanied by valvular cardiac anomalies that were clinically diagnosed as Shone syndrome. The HRT was not apparent clinically or grossly. Microscopically, multifocal islands of renal tissue consisting of glomeruli, cystically dilated tubules, and blastema were seen in all layers of the bowel, and simulated "cystic partially differentiated nephroblastoma." Our case provides further support to the belief that VACTERL association and sirenomelia represent related entities.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |
5/8. Successful salvage of a long-standing collapsed lung by bronchoplasty in three children.BACKGROUND: The authors report successful salvage of the ipsilateral lung by a bronchoplastic procedure in 3 patients with a long-standing, totally collapsed lung. methods: The 3 patients were 1, 5, and 6 years of age, and the left lung had been collapsed totally for periods of 13 months to 5 years. The origin of atelectasis was congenital in 2 patients and traumatic in one patient. bronchoscopy showed complete obstruction of the left main bronchus. In each patient, the left lung was small and appeared as a liverlike organ. Entire length of the main bronchus was resected. The left lung was not aerated in spite of aggressive bagging through an endotracheal tube inserted into the distal bronchial stump. The bifurcation of the upper and lower segmental bronchi was anastomosed to the trachea by interrupted sutures. histology of the resected bronchus in the cases of congenital origin showed bronchial rings represented by islands of immature cartilage. RESULTS: Chest x-ray showed complete aeration of the left lung at 3, 4, and 5 months, respectively, after surgery in the 3 children. bronchoscopy disclosed a well-reconstructed airway in all patients. Two of the 3 patients have been free from respiratory distress during a 3- to 4-year follow-up. The latest patient to have this surgery is undergoing home ventilation because of chronic lung disease. CONCLUSIONS: A long-standing collapsed lung in children may reexpand if bronchial continuity is restored. Insufficient inflation of the lung at surgery is not an indication for pneumonectomy. When at all possible, a child's lung should be preserved.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |
6/8. Currarino syndrome associated with penoscrotal inversion and perineal fissure.We present an unusual case of Currarino syndrome with a mucosa-lined deep perineal fissure extending to the sacrum, penoscrotal transposition, perineal hypospadias, and a penile ventral skin defect. The child had a sigmoid diverting colostomy because of high anal atresia. magnetic resonance imaging illustrated absence of the levator ani and muscle complex in the pelvis. At 15 months, perianal examination pointed out a fistula orifice and a sac related to the fistula at the left side of the perineal fissure. The fistula, a fluid-filled sac extending to the sacrum, and mucosa overlying the perineal fissure were removed en bloc. The neck of the sac was ligated and divided at the level of the distal sacrum. In the same session, a Glenn-Anderson procedure was performed for penoscrotal transposition, and the penile chordee was released. X-ray showed a bony deformity of the sacrococcygeal region in the shape of a scimitar. Histopathological examination demonstrated that the sac contained glial neuronal islands and nerve fibers. The boy has no neurologic deficits and seems to be well. To our knowledge, these associated malformations are extremely rare.- - - - - - - - - - ranking = 1keywords = island (Clic here for more details about this article) |
7/8. Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues.An unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the indian ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other genetic ectodermal dysplasias and independent syndromic status is probable.- - - - - - - - - - ranking = 5keywords = island (Clic here for more details about this article) |
8/8. St. Helena familial genu valgum.A kindred on the mid-Atlantic island of St. Helena has severe "knock knees" and variable lesser malalignment at the elbows and wrists. The disorder is the consequence of hypoplasia of the corresponding bony condyles, with subsequent progressive degenerative osteoarthrophy. Inheritance is autosomal dominant and the condition seems to be a private syndrome which has arisen on the island by recent mutation. In view of the geographical localisation of the disorder and the anatomical distribution of the abnormalities, we propose the title "St. Helena Familial genu valgum".- - - - - - - - - - ranking = 2keywords = island (Clic here for more details about this article) |