Meningocele
Sacrum
Encephalocele
Neurofibromatoses
Dandy-Walker Syndrome
Dermoid Cyst
Meningitis
Laminectomy
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (1/98)
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. (2/98)
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. (3/98)
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. (4/98)
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. (5/98)
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. (6/98)
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. (7/98)
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. (8/98)
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)A meningocele is a type of neural tube defect that results in the herniation of the meninges (the protective membranes covering the brain and spinal cord) through a defect in the vertebral column. The meninges protrude as a sac-like structure, which may be covered by skin or a thin layer of tissue. Meningoceles usually do not contain neural tissue, but cerebrospinal fluid is present within the sac. They are typically asymptomatic unless there is compression of surrounding structures or infection. Treatment generally involves surgical repair to prevent potential complications such as meningitis or neurological damage.
The sacrum is a triangular-shaped bone in the lower portion of the human vertebral column, located between the lumbar spine and the coccyx (tailbone). It forms through the fusion of several vertebrae during fetal development. The sacrum's base articulates with the fifth lumbar vertebra, while its apex connects with the coccyx.
The sacrum plays an essential role in supporting the spine and transmitting weight from the upper body to the pelvis and lower limbs. It also serves as an attachment site for various muscles and ligaments. The sacral region is often a focus in medical and chiropractic treatments due to its importance in spinal stability, posture, and overall health.
An Encephalocele is a type of neural tube defect that occurs when the bones of the skull do not close completely during fetal development. This results in a sac-like protrusion of the brain and the membranes that cover it through an opening in the skull. The sac may be visible on the scalp, forehead, or back of the head, and can vary in size. Encephaloceles can cause a range of symptoms, including developmental delays, intellectual disabilities, vision problems, and seizures, depending on the severity and location of the defect. Treatment typically involves surgical repair of the encephalocele soon after birth to prevent further damage to the brain and improve outcomes.
The occipital bone is the single, posterior cranial bone that forms the base of the skull and encloses the brain. It articulates with the parietal bones anteriorly and the temporal bones laterally. The occipital bone also contains several important structures such as the foramen magnum, through which the spinal cord connects to the brain, and the external and internal occipital protuberances, which serve as attachment points for neck muscles.
Neurofibromatoses are a group of genetic disorders that primarily affect the nervous system. The term "neurofibromatosis" is often used to refer to two specific conditions: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). These conditions are characterized by the growth of tumors on the nerves, called neurofibromas.
Neurofibromatosis type 1 (NF1): This is the most common form of neurofibromatosis, affecting about 1 in every 3,000 people worldwide. NF1 is caused by mutations in the NF1 gene and is characterized by the development of benign tumors on the nerves called neurofibromas. These tumors can develop anywhere on the body, including the skin, spinal cord, and brain. Other common features of NF1 include:
* Freckles in the underarms and groin area
* Lisch nodules (small, noncancerous growths) on the iris of the eye
* Bone abnormalities, such as scoliosis or bowing of the legs
* Learning disabilities or cognitive impairment
Neurofibromatosis type 2 (NF2): This form of neurofibromatosis is much rarer than NF1, affecting about 1 in every 30,000 people worldwide. NF2 is caused by mutations in the NF2 gene and is characterized by the development of benign tumors on the nerves that transmit sound from the inner ear to the brain (acoustic neuromas). These tumors can cause hearing loss, ringing in the ears, and balance problems. Other common features of NF2 include:
* Multiple schwannomas (tumors that develop on the protective covering of the nerves)
* Meningiomas (tumors that develop in the membranes surrounding the brain and spinal cord)
* Skin tumors called neurofibromas, although these are less common than in NF1
It is important to note that while neurofibromatoses can cause a range of symptoms and complications, most people with these conditions have a normal lifespan. With proper medical care and monitoring, it is possible to manage the symptoms and reduce the risk of complications.
Hydrocolpos is a medical condition that affects female fetuses and newborn girls. It refers to the accumulation of fluid in the vagina, often due to an obstruction in the reproductive tract. This can occur when the vaginal opening (introitus) is blocked by a membrane or mass, preventing the normal flow of fluids.
The fluid accumulation can lead to distention and enlargement of the vagina, which may be noticeable at birth or detected through prenatal ultrasound examinations. Hydrocolpos can sometimes be associated with other congenital anomalies, such as imperforate hymen, vaginal septum, or cloacal malformations.
If left untreated, hydrocolpos may cause complications such as infection, urinary tract problems, and difficulty with menstruation later in life. Treatment typically involves surgical correction of the underlying obstruction to restore normal drainage of fluids from the reproductive tract.
Dandy-Walker Syndrome is a congenital brain malformation characterized by the absence or underdevelopment of the cerebellar vermis (the part of the brain that helps coordinate movement) and an enlarged fluid-filled space (fourth ventricle) surrounding it. This condition can also be associated with an upward bulging of the back of the skull (occipital bone), and in some cases, hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The syndrome can vary in severity, and symptoms may include problems with balance, coordination, developmental delays, and increased intracranial pressure. It is usually diagnosed through imaging tests such as ultrasound, CT scan, or MRI. Treatment typically involves managing symptoms and addressing complications, which may include surgical procedures to relieve hydrocephalus if present.
The sacrococcygeal region is the lower part of the back where the spine ends, specifically referring to the area where the sacrum (a triangular bone at the base of the spine formed by the fusion of several vertebrae) meets the coccyx (also known as the tailbone). This region is located at the very bottom of the spine and is susceptible to injury or trauma due to its position and role in supporting the body's weight. It is also a common site for birth defects, particularly in newborns.
A dermoid cyst is a type of benign (non-cancerous) growth that typically develops during embryonic development. It is a congenital condition, which means it is present at birth, although it may not become apparent until later in life. Dermoid cysts are most commonly found in the skin or the ovaries of women, but they can also occur in other areas of the body, such as the spine or the brain.
Dermoid cysts form when cells that are destined to develop into skin and its associated structures, such as hair follicles and sweat glands, become trapped during fetal development. These cells continue to grow and multiply, forming a sac-like structure that contains various types of tissue, including skin, fat, hair, and sometimes even teeth or bone.
Dermoid cysts are usually slow-growing and may not cause any symptoms unless they become infected or rupture. In some cases, they may cause pain or discomfort if they press on nearby structures. Treatment typically involves surgical removal of the cyst to prevent complications and alleviate symptoms.
Meningitis is a medical condition characterized by the inflammation of the meninges, which are the membranes that cover the brain and spinal cord. This inflammation can be caused by various infectious agents, such as bacteria, viruses, fungi, or parasites, or by non-infectious causes like autoimmune diseases, cancer, or certain medications.
The symptoms of meningitis may include fever, headache, stiff neck, nausea, vomiting, confusion, and sensitivity to light. In severe cases, it can lead to seizures, coma, or even death if not treated promptly and effectively. Bacterial meningitis is usually more severe and requires immediate medical attention, while viral meningitis is often less severe and may resolve on its own without specific treatment.
It's important to note that meningitis can be a serious and life-threatening condition, so if you suspect that you or someone else has symptoms of meningitis, you should seek medical attention immediately.
A laminectomy is a surgical procedure that involves the removal of the lamina, which is the back part of the vertebra that covers the spinal canal. This procedure is often performed to relieve pressure on the spinal cord or nerves caused by conditions such as herniated discs, spinal stenosis, or tumors. By removing the lamina, the surgeon can access the affected area and alleviate the compression on the spinal cord or nerves, thereby reducing pain, numbness, or weakness in the back, legs, or arms.
Laminectomy may be performed as a standalone procedure or in combination with other surgical techniques such as discectomy, foraminotomy, or spinal fusion. The specific approach and extent of the surgery will depend on the patient's individual condition and symptoms.