1/110. Cutaneomeningospinal angiomatosis (Cobb syndrome) with tethered cord.A newborn presented with a skin-covered lumbar mass with a subcutaneous hemangioma and on a magnetic resonance image (MRI) revealed a tethered spinal cord with a local mass. The mass had signal characteristics compatible with a lipoma. An initial diagnosis of a lipomeningocele with tethered cord was made, and the patient underwent surgical exploration and subtotal resection of the mass. A follow-up MRI revealed that the cord was still tethered, but an additional mass was present. The initial mass with signal characteristics of lipomatous tissue was accompanied by a low-signal mass in the lumbosacral canal, ventral to the cord, and bilateral enlargement of the foramina at the lumbosacral level. Because of a concern for an intraspinal tumor, a second operative intervention was performed. Multiple biopsies of the mass inside the spinal cord, the nerve roots and at the level of the foramina revealed angiomas that had similar pathology in all the specimens. A partial resection of the masses and a release of the tethered cord was performed by sectioning the thickened filum terminale. The diagnosis of Cobb's syndrome was made. The unique association of a tethered cord and the Cobb syndrome is reported here.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
2/110. A case in the spectrum of the oculo-encephalo-hepato-renal syndrome.An 18-year-old male is presented with unprecedented central nervous system findings (cerebral dysplasia and sacral meningocele) possibly in the spectrum of the oculo-encephalo-hepato-renal syndrome. He had severe mental retardation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failure. magnetic resonance imaging demonstrated cerebral dysplasia (left dominant abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brainstem. A sacral meningocele was observed first at 16 years of age. His renal function gradually worsened after 11 years of age. His liver function was normal. The previously reported 72 cases with the oculo-encephalo-hepato-renal syndrome are reviewed.- - - - - - - - - - ranking = 2keywords = meningocele (Clic here for more details about this article) |
3/110. H-type rectovaginal fistula associated with the Currarino triad.We describe a case of H-type rectovaginal fistula associated with the Currarino triad (anorectal stenosis, sacral defect, presacral mass). Presenting symptoms included passage of feces per vaginam, signs of intestinal subocclusion without perianal inflammation, left leg paresis and foul-smelling urine. An anterior sacral meningocele was repaired at the age of three months. At age 18 months the fistula was excised through a perineal approach after creation of a protective colostomy. Diagnostic and therapeutic aspects of this malformation are discussed.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
4/110. neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and ambiguous genitalia. Cytogenetic and fluorescence in situ hybridization analysis showed a de novo 46,XY,del(13)(q33.2-->qter) with no visible translocation. By using microsatellite markers, the deletion breakpoint was mapped to a 350-kb region between D13S274 and D13S1311 and was paternal in origin. An analysis of 13q deletions with NTDs, including the present case, suggests that a deletion in 13q33-34 is sufficient to cause an NTD. The deletions associated with NTDs are distal to and nonoverlapping with the previously defined critical region in 13q32 for the major malformation syndrome [Brown et al., 1999: Am J Hum Genet 57: 859-866]. Our analysis also suggests that one or more genes in 13q33-34 produces NTDs by haploinsufficiency.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
5/110. Posterior sagittal approach for Currarino syndrome with anterior sacral meningocele: a case report.The authors report a case of Currarino syndrome with anterior sacral meningocele, tethered cord, and anorectal stenosis that was treated by posterior sagittal approach. Initially, a diverting colostomy was performed. Two months later, excision of the meningocele, untethering of spinal cord, and anorectoplasty were performed simultaneously without complication. Posterior sagittal approach seems to be very beneficial for excision of the presacral mass and reconstruction of the anus.- - - - - - - - - - ranking = 6keywords = meningocele (Clic here for more details about this article) |
6/110. Oval-shaped cornea, lens duplication, and optic nerve hypoplasia associated with myelomeningocele.Oval-shaped cornea associated with true lens duplication and separate capsules is a rare anomaly. It can occur as an isolated finding(1,2) or be associated with other ocular and facial maldevelopments.(3-5) We report a novel association of an hourglass cornea, lens duplication, and optic nerve hypoplasia with myelomeningocele in a male infant.- - - - - - - - - - ranking = 5keywords = meningocele (Clic here for more details about this article) |
7/110. Complete familial Currarino triad. Report of three cases in one family.The Currarino triad is a unique complex of congenital caudal anomalies including anorectal malformation, sacral bone abnormality, and presacral mass. In this report, the authors describe three cases with the complete Currarino triad in a family. The authors treated a 30-year-old mother with an anterior sacral meningocele, her 1-year-old son with a combination of anterior sacral meningocele and dermoid cyst, and her 4-year-old daughter with an epidermoid cyst. These three patients had associated sacral agenesis and anorectal malformations. To the authors' knowledge, this is the first report describing radiological and operative findings of complete familial Currarino triad in which a mother and her two children were affected.- - - - - - - - - - ranking = 2keywords = meningocele (Clic here for more details about this article) |
8/110. Presacral tumor associated with the Currarino triad in an adolescent.A 17-year-old woman presented with pain over the sacral region. Plain radiographs of the sacrum demonstrated a bony deformity of the sacrococcygeal region in the shape of a scimitar. magnetic resonance imaging showed a cystic mass of the presacral region which appeared to be continuous with the dural sac. An anteroposterior view myelogram revealed caudal elongation of the dural sac, and on the lateral view it was recognized as an anterior meningocele. At surgery, we confirmed a connection between the presacral mass and the rectum. In light of the combination of a sacral bony deformity, presacral mass including meningocele, and mass-rectum connection, we made the diagnosis of the Currarino triad, which is a rare complex of congenital caudal anomalies. The patient underwent excision of the presacral mass. Histologic examination of the resected specimen revealed features of an epidermoid cyst.- - - - - - - - - - ranking = 2keywords = meningocele (Clic here for more details about this article) |
9/110. Hirschsprung's disease, associated rare congenital anomalies.OBJECTIVE: Hirschsprung's disease may be associated with a number of congenital anomalies of which Down's syndrome and intestinal atresias are commonly encountered. The study aimed to assess the impact of rare associated anomalies on the diagnosis and management of Hirschsprung's disease. methods: A retrospective review of the clinical presentation, diagnosis and outcome of thirty five consecutive newly diagnosed cases of Hirschsprung's disease encountered over two years was performed. RESULTS: Besides Down's syndrome (two), intestinal atresia (one) and pigmentary ocular defects (two), three rare anomalies (Occipital meningocele, Calcific meconium cyst with anal stenosis, Malrotation) were encountered in four of thirty five cases. The clinical features, radiologic anatomy and gross morphology of the bowel were unconventional and the diagnosis was supported by intraoperative acetylcholinesterase staining of biopsies. Though the diagnosis was relatively delayed in these cases, the outcome has been comparable to the rest. The dilemma in their diagnosis and management and their possible pathoembryology is discussed. CONCLUSION: awareness of such associations and a specific investigative protocol is imperative for timely diagnosis and minimal morbidity in complex presentations of Hirschsprung's disease.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
10/110. Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia.- - - - - - - - - - ranking = 1keywords = meningocele (Clic here for more details about this article) |
| | Next -> |