1/40. An unusual case of dorsally situated bony spur in a lumbar split cord malformation.A case of lumbar split cord malformation (SCM) with a bony spur situated dorsally is presented. This was associated with a hypertrophied posterior arch. The ventral dura was totally intact, and there was no fibrous septum connecting the bony arch to the dura. To our knowledge, such a case has not been reported earlier. In view of this unique finding, we propose a slight modification in Pang's unified theory of embryogenesis in the development of SCM.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/40. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.A large Filipino-American family with progressive matrilineal hearing loss, premature graying, depigmented patches, and digital anomalies was ascertained through a survey of a spina bifida clinic for neural crest disorders. deafness followed a matrilineal pattern of inheritance and was associated with the A1555G mutation in the 12S rRNA gene (MTRNR1) in affected individuals as well as unaffected maternal relatives. Several other malformations were found in carriers of the mutation. The proband had a myelocystocele, Arnold-Chiari type I malformation, cloacal exstrophy, and severe early-onset hearing loss. Several family members had premature graying, white forelock, congenital leukoderma with or without telecanthus, somewhat suggestive of a waardenburg syndrome variant. In addition to the patient with myelocystocele, two individuals had scoliosis and one had segmentation defects of spinal vertebrae. The syndromic characteristics reported here are novel for the mitochondrial A1555G substitution, and may result from dysfunction of mitochondrial genes during early development. However, the mitochondrial A1555G mutation is only rarely associated with neural tube defects as it was not found in a screen of 218 additional individuals with spina bifida, four of whom had congenital hearing loss.- - - - - - - - - - ranking = 0.4keywords = malformation (Clic here for more details about this article) |
3/40. Congenital malformations after intracytoplasmic injection of spermatids.Spermatid microinjection into oocytes was applied in cases of intracytoplasmic sperm injection (ICSI)/testicular sperm extraction (TESE) where no spermatozoa could be found in numerous testicular samples. Although several pregnancies were obtained with this procedure, serious concerns remain regarding its safety. Although the relevance of the injection of spermatids is by no means certain, we wish to report that from four pregnancies obtained after injection of elongated spermatids, two cases of major malformation resulted.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
4/40. Split cord malformation with diastematomyelia presenting as neurogenic claudication in an adult: a case report.STUDY DESIGN: This is a report of a rare presentation of a split cord malformation with diastometamyelia. OBJECTIVES: This report draws attention to the fact that the only manifestation of diastmetamyelia in the adult patient may be neurogenic claudication. SUMMARY OF BACKGROUND DATA: patients with split cord malformations and diastometamyelia rarely have symptomatic onset in adulthood. When present, a traumatic event leading to an acute neurologic change is the usual presentation. methods: An adult patient presented with symptoms of neurogenic claudication in the left leg. magnetic resonance imaging examination showed a split cord malformation and diastometamylia at L3-L4 with spinal stenosis of the left hemicord. Decompressive laminectomy and subtotal resection of the bony spur were performed. RESULTS: Two years after decompression, the patient has complete resolution of his leg symptoms and is back to work. CONCLUSIONS: Neurogenic claudication without any objective neurologic deficit or neurocutaneous stigmas of an underlying spinal cord abnormality may be the only presentation in the adult with diastometamyelia. decompression to relieve both clinical and radiologic evidence of spinal stenosis obtained excellent outcome.- - - - - - - - - - ranking = 1.4keywords = malformation (Clic here for more details about this article) |
5/40. The detection of spina bifida before 10 gestational weeks using two- and three-dimensional ultrasound.We present three cases of spina bifida during the embryonic period detected by ultrasound before 10 weeks' gestational age. The last-menstrual-period-based ages ranged from 9 weeks 1 day to 9 weeks 4 days and the crown rump lengths ranged from 22 mm to 28 mm. The cases were identified prospectively in a program of targeted ultrasound examination of high-risk pregnancies, using a 7.5 MHz annular array transvaginal transducer. The use of 3D ultrasound made additional diagnostic ultrasound tomograms possible, but was not necessary for the definite diagnosis. The scalloping of the frontal bones and the Arnold Chiari malformation did not occur before 12 weeks.- - - - - - - - - - ranking = 0.2keywords = malformation (Clic here for more details about this article) |
6/40. Case report: human neonatus with spina bifida, clubfoot, situs inversus totalis and cerebral deformities: sequence or accident?An unreported coincidence of malformations has been studied by anatomical dissection in a mature male fetus. Auxiliary, this fetus was examined by computed tomography and the skeletal malformations were three-dimensionally reconstructed. The organs of the thorax as well as of the abdomen showed a visceral inversion. In the lumbar region, a hyperkyphosis was detected in addition to a split-notochord. A hydrocephalus internus with enlarged lateral ventricles and an agenesis of the corpus callosum were apparent. The lower extremities were dystrophic with both showing a talipes equinovarus-deformation. Following the case report, we discuss if this is coincidental or manifestations in consequence of one defect.- - - - - - - - - - ranking = 0.4keywords = malformation (Clic here for more details about this article) |
7/40. spinal dysraphism in an elderly patient.Spinal dysraphisms are diagnosed more frequently at birth or in infancy. We report a spinal malformation compatible with lipomyeloschisis in an elderly patient presenting with symptoms and signs of myelopathy. magnetic resonance imaging revealed an intraspinal mass continuous with a subcutaneous lipoma. Three-dimensional computed tomography reconstructions better showed the spinal dysraphism; dermal sinus was also evident. neuroimaging can define the precise diagnosis also in elderly patients presenting with myelopathy and can provide valuable structural details.- - - - - - - - - - ranking = 0.2keywords = malformation (Clic here for more details about this article) |
8/40. First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association.Congenital megalourethra is a rare disorder. We present an early case diagnosed in the first trimester. Prenatal ultrasound showed a megalourethra with a normal fetal bladder, hyperechogenic cystic right kidney and single umbilical artery. After termination of pregnancy, necropsy confirmed all sonographic findings and revealed other malformations (spina bifida occulta, anal atresia, tracheo-oesophageal fistula, brachydactylia) resulting in the diagnosis of VACTERL association. The prenatal diagnostician should seek histological examination firstly to confirm his findings and secondly to avoid missing associations and inherited malformations.- - - - - - - - - - ranking = 0.4keywords = malformation (Clic here for more details about this article) |
9/40. Dorsal bony septum: a split cord malformation variant.Split cord malformations (SCMs) are rare spinal anomalies and their classification is still a matter of debate. There is no widespread consensus on the embryological basis of this entity. The unified theory, proposed by Pang et al. [neurosurgery 1992;31:451-480], was an attempt to explain the embryogenetic mechanism as a basic error occurring around the time when the primitive neuroenteric canal closes. We report two unusual cases of SCMs with a dorsally situated bony spur. We analyzed the radiological, clinical and surgical features of the lesions and were not able to classify these cases according to the unified theory. Further embryological studies should be conducted to elucidate the mechanisms of occurrence of these lesions, and the dorsal bony septum variant should be considered in SCM surgery.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
10/40. Split-cord malformation in a girl with angelman syndrome: a mere coincidence?We present a case of a girl with both angelman syndrome and split-cord malformation. The child was initially referred at the age of 2.5 years, for developmental delay and a possible diagnosis of spina bifida occulta, based on the presence of a hair tuft located on the midline of the lumbar area. magnetic resonance imaging of the spine showed split-cord malformation below L1, whereas a cytogenetically detected deletion of chromosome bands 15q11-q13 (SNRPN) confirmed the clinical diagnosis of angelman syndrome. Split-cord malformation or diastematomyelia is a rare form of spina bifida occulta that occurs sporadically and is not particularly related to specific syndromes. hair patches or other distinctive cutaneous stigmata such as those seen in the present case have not, to our knowledge, been reported in other patients with angelman syndrome; therefore, the association of angelman syndrome and split-cord malformation in this child is probably coincidental. spinal cord abnormalities have not been consistently reported in patients with angelman syndrome; only one adult patient with angelman syndrome and spina bifida occulta has been reported, and this association was probably considered fortuitous. However, some relatively uncommon clinical features such as deterioration of gait, lower limb malformations, and bladder dysfunction, particularly as the patients age, although nonspecific, are reminiscent of such a cause. We therefore urge clinicians to look for cutaneous stigmata along the spine and consider the evaluation of the spinal cord in children with apparent paraparesis, out of proportion to that usually seen in angelman syndrome, should our case report not just be a coincidental observation.- - - - - - - - - - ranking = 1.8keywords = malformation (Clic here for more details about this article) |
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