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Neurology India 2020
Topics: Child; Child, Preschool; Encephalocele; Failure to Thrive; Humans; Infant; Infant, Newborn; Intellectual Disability; Meningocele; Neurosurgical Procedures; Scalp; Skull
PubMed: 32129233
DOI: 10.4103/0028-3886.279713 -
The Pan African Medical Journal 2022
Topics: Anal Canal; Digestive System Abnormalities; Humans; Magnetic Resonance Imaging; Meningocele; Rectum; Sacrum; Syringomyelia
PubMed: 35519164
DOI: 10.11604/pamj.2022.41.143.33419 -
SAGE Open Medical Case Reports 2022The occipital bone is an uncommon location for meningoceles protrusion. This condition occurs generally after a severe traumatism or surgical procedure. However, in some...
The occipital bone is an uncommon location for meningoceles protrusion. This condition occurs generally after a severe traumatism or surgical procedure. However, in some rare cases, the herniation can happen spontaneously. Nontraumatic clival meningoceles present an extremely rare entity and correspond to a herniating pachymeningeal collection containing cerebrospinal fluid through a zone of fragility in the clivus. Clinical presentation ranges from simple headache or rhinorrhea to severe complications such as recurrent bacterial meningitis or nerve compression. Computed tomography provides an analysis of the bone and magnetic resonance imaging provides a superior contrast resolution, helping to distinguish among the various types of clival lesions. We report the case of a young woman with a long history of idiopathic intracranial hypertension, who presented with a worsening headache. Magnetic resonance imaging confirmed a clival meningocele without other complications and the patient was put under medical surveillance.
PubMed: 35966125
DOI: 10.1177/2050313X221117334 -
Journal of Medical Ultrasound 2024Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum... (Review)
Review
Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome. In this report, a comprehensive review of fetal cervical myelomeningocele with its prenatal diagnosis and long-term outcomes is presented.
PubMed: 38665341
DOI: 10.4103/jmu.jmu_51_23 -
Children (Basel, Switzerland) Nov 2020Caudal Regression Syndrome (CRS) or Caudal dysgenesis syndrome (CDS) is characterized by maldevelopment of the caudal half of the body with variable involvement of the...
Caudal Regression Syndrome (CRS) or Caudal dysgenesis syndrome (CDS) is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. CRS affects 1-3 newborn infants per 100,000 live births. The prevalence in infants of diabetic mothers is reported at 1 in 350 live births which includes all the variants. A related condition is sirenomelia sequence or mermaid syndrome or symmelia and is characterized by fusion of the legs and a variable combination of the other abnormalities. The Currarino triad is a related anomaly that includes anorectal atresia, coccygeal and partial sacral agenesis, and a pre-sacral lesion such as anterior meningocele, lipoma or dermoid cyst. A multidisciplinary management approach is needed that includes rehabilitative services, and patients need a staged surgical approach.
PubMed: 33158301
DOI: 10.3390/children7110211 -
Edinburgh Medical Journal Mar 1881
PubMed: 29647261
DOI: No ID Found -
Frontiers in Genetics 2020Notch (Notch1 through 4) are transmembrane receptors that determine cell differentiation and function, and are activated following interactions with ligands of the... (Review)
Review
Notch (Notch1 through 4) are transmembrane receptors that determine cell differentiation and function, and are activated following interactions with ligands of the Jagged and Delta-like families. Notch has been established as a signaling pathway that plays a critical role in the differentiation and function of cells of the osteoblast and osteoclast lineages as well as in skeletal development and bone remodeling. Pathogenic variants of Notch receptors and their ligands are associated with a variety of genetic disorders presenting with significant craniofacial and skeletal manifestations. Lateral Meningocele Syndrome (LMS) is a rare genetic disorder characterized by neurological manifestations, meningoceles, skeletal developmental abnormalities and bone loss. LMS is associated with NOTCH3 gain-of-function pathogenic variants. Experimental mouse models of LMS revealed that the bone loss is secondary to increased osteoclastogenesis due to enhanced expression of receptor activator of nuclear factor kappa B ligand by cells of the osteoblast lineage. There are no effective therapies for LMS. Antisense oligonucleotides targeting and antibodies that prevent the activation of NOTCH3 are being tested in preclinical models of the disease. In conclusion, LMS is a serious genetic disorder associated with NOTCH3 pathogenic variants. Novel experimental models have offered insight on mechanisms responsible and ways to correct the disease.
PubMed: 33519922
DOI: 10.3389/fgene.2020.620334