1/22. 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 = 1keywords = tube (Clic here for more details about this article) |
2/22. spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial dna nucleotide 3271.We describe a case of mitochondrial encephalopathy, lactacidosis, and stroke-like episode (melas syndrome) associated with ventricular septal defect and meningocele at the L3 level in a 5-year-old girl. Mitochondrial dna analysis showed point mutation at nucleotide 3271--> TC. The occurrence of heart and neural tube defects in association with usual features of the melas syndrome might be explained by either defective high-energy metabolism during early embryogenesis or a common genetic cause.- - - - - - - - - - ranking = 1keywords = tube (Clic here for more details about this article) |
3/22. Embryonic hydromyelia: cystic dilatation of the lumbosacral neural tube in human embryos.In a large collection of human embryos (the Kyoto Collection of Human Embryos, Kyoto University), we encountered five cases with abnormal dilatation of the neural tube at the lumbosacral level. In these examples, the central canal was enlarged, and the roof plate of the neural tube was extremely thin and expanded. The mesenchymal tissue was scarce or lacking between the roof plate and the surface ectoderm. This type of anomaly was assumed to be formed after neural tube closure and may be an early form of spina bifida. In two of the cases, some abnormal cells were found ectopically between the thin roof plate and the surface ectoderm. Morphologically, these cells resembled those forming spinal ganglia and could be of the neural crest origin. Since neural crest cells are pluripotent and can differentiate into a variety of tissues, such ectopic cells might undergo abnormal differentiation into teratomatous tumors and/or lipomas, which are frequently associated with spina bifida. We also discuss the definition of spina bifida and the classification of neural tube defects from the embryological and pathogenic viewpoints and propose a new classification of neural tube defects.- - - - - - - - - - ranking = 9keywords = tube (Clic here for more details about this article) |
4/22. Chiari II malformation and occult spinal dysraphism. case reports and a review of the literature.We report two cases of children with occult spinal dysraphism who were also found to have many associated brain anomalies seen in the Chiari II malformation. No previous report has commented on the possible association between the Chiari II malformation and the 'closed' form of neural tube defect. One child had symptoms referable to pathology at the craniocervical junction. Neither child had cutaneous stigmata associated with occult spinal dysraphism over the caudal midline spine. These cases, although seemingly rare, lend support to the theories that the association between the Chiari II malformation and patients with myelomeningoceles is due to dysgenesis of the rostral and caudal neural tube. These cases are also important as refutation of earlier theories that link these two entities by proposing that the Chiari II malformation is due to overdrainage of cerebrospinal fluid at the site of myelomeningocele.- - - - - - - - - - ranking = 2keywords = tube (Clic here for more details about this article) |
5/22. Split spinal cord malformation in an elderly patient: case report.Split spinal cord malformations (SCM) typically present in childhood and rarely in adulthood. Very little is known about the SCMs in the elderly, and the diagnosis can be easily missed. A 73-year-old woman with a childhood history of scoliosis and late ambulation milestones presented with a 2-year history of worsening low back pain and progressive difficulty walking. She had a mild gait disturbance with 4/5 weakness in left ankle dorsiflexion. magnetic resonance imaging revealed a bifid spinal cord contained in a single thecal sac and a tethered cord with low-lying conus at L3. The patient was taken to the operating room and a soft-tissue median septum, as well as all other adhesions, was removed. The filum terminale was identified, coagulated, and divided. Six weeks later, the patient reported decreased back pain, improvement in ambulation, and markedly decreased used of narcotics for her back and leg pain. Her left ankle dorsiflexion strength improved to 4 /5. This patient had two hemicords encased in a single dural tube separated by a nonrigid, fibrous median septum and an associated tethered cord. adult presentation of SCM is extremely rare. This case highlights the need to consider split cord malformation and tethered cord in the differential diagnosis not only for adults but also the elderly presenting with back pain, scoliosis, and difficulty walking.- - - - - - - - - - ranking = 1keywords = tube (Clic here for more details about this article) |
6/22. A trisomy 2 fetus with severe neural tube defects and other abnormalities.Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, 2.- - - - - - - - - - ranking = 4keywords = tube (Clic here for more details about this article) |
7/22. Spinal congenital dermal sinus associated with upper thoracic meningocele. Case Report.The congenital dermal sinus is an abnormal epithelium-lined sinus tract between the skin surface and deeper tissues. It occurs during neurulation when the neural groove closes to form the neural tube on Day 26 of gestation and results from a failure of neuroectoderm to separate from the cutaneous ectoderm. The most frequent location is the lumbosacral area; an upper thoracic location is quite rare. This 37-year-old man presented with headache and numbness in both arms. No specific neurological findings were observed. physical examination revealed a dimple at T-2. radiography and magnetic resonance imaging of the thoracic spine revealed spina bifida at T1-3, a meningocele, and a dermal sinus tract complex. The treatment approach and outcome in this unusual case are presented.- - - - - - - - - - ranking = 1keywords = tube (Clic here for more details about this article) |
8/22. The NAT1 C1095A polymorphism, maternal multivitamin use and smoking, and the risk of spina bifida.BACKGROUND: The risk of having a child with a neural tube defect (NTD) can be reduced by maternal, periconceptional supplementation with folic acid, but the underlying folate-dependent protective mechanism remains unclear. N-acetyltransferase 1 is involved in acetylation of aromatic and heterocyclic amines and the catabolism of folates. Hence, functional polymorphisms in NAT1, the gene encoding N-acetyltransferase 1, are plausible risk factors for NTDs. Such variants could exert an influence on the risk of NTDs via their role in acetylation or folate catabolism and could act through the maternal or the embryonic genotype. methods: NAT1 C1095A genotypes and information on maternal, periconceptional multivitamin use and smoking were obtained as part of a family-based study of spina bifida. Associations between spina bifida and the embryonic and maternal NAT1 C1095A genotypes, and potential NAT1 C1095A genotype-exposure interactions were evaluated using log-linear modeling. RESULTS: The analyses provided no evidence that the embryonic or maternal NAT1 C1095 genotypes influence the risk of spina bifida independently, or through interactions with maternal use of multivitamins. There was evidence that the embryonic, and possibly the maternal, NAT1 C1095A genotype influence the risk of spina bifida via interactions with maternal smoking status. CONCLUSIONS: The genotype for the NAT1 C1095A polymorphism does not appear to be an independent risk factor for spina bifida. However, the results of these analyses provide preliminary evidence that this polymorphism may be associated with the risk of spina bifida in the offspring of women who smoke during early pregnancy.- - - - - - - - - - ranking = 1keywords = tube (Clic here for more details about this article) |
9/22. CT demonstration of complex dorsal spinal dysraphism.An unusual case of dorsal spinal dysraphism in a four year old child is presented. Various abnormalities including diastematomyelia, an extradural arachnoid cyst arising from one of the two dural tubes, and lipomeningomyelocele with a related rib-like bony structure were demonstrated with iohexol CT and subsequently confirmed at surgery.- - - - - - - - - - ranking = 1keywords = tube (Clic here for more details about this article) |
10/22. teratoma or enterogenous cyst? The histopathological and clinical dilemma in co-existing occult neural tube dysraphism.BACKGROUND: Better understanding of embryology, histopathology and genetics of dysraphic conditions have lead to an expansion of this concept to entities with a similar microscopic appearance (e.g. enterogenous cysts, colloid cyst of the III-rd ventricle) or rated among neoplasms (e.g. mature teratoma), creating a certain conceptual confusion. Currently the diagnosis of "teratoma" is being substituted by "enterogenous cyst" or "teratomatous cyst". AIM OF paper: Clarification of concepts in this field and presentation of the experience of the Department of neurosurgery of the Children's Memorial health Institute associated therewith. MATERIAL AND METHOD: Since January 1990 through April 2005 we had treated 7 children with the final diagnosis of "an enterogenous cyst". The mean age of the children was 10.5 years and the mean follow-up time was 4.1 years. The study was performed by a retrospective analysis of medical records, imaging studies and histological preparations. RESULTS: the study group included: 3 cases of type I enterogenous cyst, 1 case of type II cyst and 3 cases of type III cyst (in 2 cases a former diagnosis of "mature teratoma" has been revised). Within this follow-up time, a good outcome was obtained in 3 cases, moderate disability - in 3 cases and severe disability - in 1 case. CONCLUSIONS: (1) Enterogenous cyst often co-exists with other dysraphic features; (2) Clinical signs of an enterogenous cyst are non-typical and depend on location of the lesion. The presence of secreting gastric mucosa may lead to chemical myelitis; (3) Severity of the postoperative neurological deficit is due to the developmental nature of the lesion and common vascular supply; (4) Late results of treatment are satisfactory, provided the lesion is excised radically; (5) Enterogenous cyst may be diagnosed in the case of a tumor composed of tissues originating from 1, 2 or 3 embryonic layers coexisting with dysraphic stigmata, congenital vertebral abnormalities or a mediastinal tumor of the same type. Types II and III of enterogenous cyst were historically diagnosed as "adult teratoma".- - - - - - - - - - ranking = 4keywords = tube (Clic here for more details about this article) |
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