High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.
Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an approximately 800-kb region. The MUL locus was refined into an approximately 1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes. (+info)
Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma--case report.
A neonate presented with Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma, manifesting as soft masses on the skull and lumbosacral regions. Magnetic resonance imaging demonstrated a large posterior fossa cyst between the fourth ventricle and occipital meningocele, but the aqueduct was patent and there was no sign of hydrocephalus. A cyst-peritoneal shunt was emplaced at the age of 8 days followed by partial removal of the spinal lipoma and untethering of the cord at the 3 months. Follow-up examination of age 3 years found almost normal development, although the cyst still persisted. (+info)
Aseptic meningitis after posterior fossa surgery treated by pseudomeningocele closure.
Aseptic meningitis is a recognised complication after posterior fossa surgery. It is often self limiting but occasionally runs a protracted course requiring repeated CSF examination to exclude infection, and treatment with systemic steroids. A patient is described with aseptic meningitis after posterior fossa surgery who underwent posterior fossa re-exploration nearly 3 years after the initial operation. This disclosed a pseudomeningocele, which was closed. The patient remains symptom free almost 2 years after closure. In this case of chronic aseptic meningitis after posterior fossa surgery, closure of the pseudomeningocele found at exploratory surgery led to resolution of the symptoms. (+info)
Gluteal neuralgia - unusual presentation in an adult with intrasacral meningocele: a case report and review of literature.
A nineteen year old man with intrasacral meningocele is reported, who presented with long standing episodic gluteal pain and progressive muscle wasting. Magnetic resonance imaging established the diagnosis. Surgical excision relieved the pain but muscle wasting persisted. Pertinent literature is reviewed. (+info)
Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle.
Six genetically related Shorthorn calves were affected with the tibial hemimelia syndrome. The lesions included bilaterally malformed or absent tibia and abdominal hernia in all animals, a long shaggy haircoat, retained testicles in males, and meningocele in three animals. The malformations were similar to those described previously in Galloway calves. Pedigree analysis demonstrated a mechanism by which a recessive allele in a homozygous state could be responsible for the disorder. The condition in these calves was considered the result of a recurrence of a genetic mutation affecting a putative hemimelia locus. (+info)
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. (+info)
Encephalomeningocele cases over 10 years in Thailand: a case series.
BACKGROUND: Encephalomeningocele, especially in the frontoethmoidal region, is a form of neural tube defect which affects patients in Southeast Asia more commonly than in Western countries. Its underlying cause is not known but teratogenic environmental agents are suspected. However, nutritional deficiency, as in spina bifida, cannot be excluded. METHODS: This study reports 21 cases of meningocele (without brain tissue in the lesion) and encephalomeningocele (with brain tissue) that were admitted to our hospital for surgical corrections in the period of ten years, from 1990 to 1999. Clinicopathological findings, as well as occupations of family members and prenatal exposures to infectious agents or chemicals were reviewed and analyzed. RESULTS: The most commonly involved area was the frontoethmoidal region, found in 20 cases. The combined pattern between nasoethmoidal and nasoorbital defects was found most frequently (11 from 21 cases) and had more associated abnormalities. Encephalomeningocele had more related abnormalities than meningocele with proportions of 0.6 and 0.3, respectively. CONCLUSIONS: Here, we confirmed that genetic defects are not likely to be the single primary cause of this malformation. However, we could not draw any conclusions on etiologic agents. We suggest that case control studies and further investigation on the role of nutritional deficiencies, especially folic acid, in the pathogenesis of encephalomeningocele are necessary to clarify the underlying mechanisms. (+info)
Goldenhar's syndrome associated with occipital meningoencephalocele--case report.
A male neonate presented with Goldenhar's syndrome (oculoauriculovertebral dysplasia), a combination of facial microsomia and auricular malformation, associated with occipital meningoencephalocele. Three-dimensional computed tomography images clearly showed a suboccipital cranial cleft extending to the foramen magnum and hypogenesis of the left temporal bone. The patient died of heart failure due to ventricular septal defect at age 5 months. (+info)