Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.

Knobloch syndrome is a rare collagenopathy characterized by severe early onset myopia, retinal detachment, and occipital encephalocele with various additional manifestations due to biallelic changes in the COL18A1 gene. Here we reported a Chinese family with two affected siblings presented with antenatal occipital encephalocele, infantile onset retinal detachment, and pronounced high myopia at early childhood. Quartet whole exome sequencing was performed in this family and identified that both siblings carried novel compound heterozygous variants in the COL18A1 gene (NM_001379500.1): the maternally inherited variant c.1222-1G>A at the consensus acceptor splice site of intron 8, and the paternally inherited frameshift variant c.3931_3932delinsT p.(Gly1311Serfs*25) in the last exon. Both patients had successful surgical treatment for the occipital encephalocele soon after birth. They had normal neurocognitive outcome and good general conditions examined at the age of 7 years old for the elder sister and 4 years old for the younger brother. The younger brother developed infantile onset retinal detachment at 7 months of age while the sister had high myopia without signs of retinal detachment until 7 years old. This report expands the phenotype and genotype spectrum of Knobloch syndrome with antenatal and postnatal findings.

Gods and monsters: Greek mythology and Christian references in the neurosurgical lexicon.

BACKGROUND: Myths and religion are belief systems centered around supernatural entities that attempt to explain the observed world and are of high importance to certain communities. The former is a collection of stories that belong to a cultural tradition and the latter are organized faiths that determine codes of ethics, rituals and philosophy. Deities or monstrous creatures in particular act as archetypes instructing an individual's conduct. References to them in Greek mythology and Christianity are frequently manifested in the modern neurosurgical vernacular. METHODS: A review of the medical literature was performed using the PubMed and MEDLINE bibliographic databases. Publications from 1875 to 2021 related to neurosurgery or neuroanatomy with the medical subject headings (MeSH) terms mythology, religion, Christianity and Catholicism were reviewed. References pertaining to supernatural beings were classified to either a deity or a monstrosity according to their conventional cultural context. RESULTS: Twelve narratives associated with neurosurgery were identified, nine relating to Greek mythology and three associated with the Christian-Catholic faith. Eight accounts concerned deities and the remaining with monstrous creatures. CONCLUSION: This article explores the etymology of commonly utilized terms in daily neurosurgical practice in the context of mythology and religion. They reveal the ingenuity and creativity of early pioneers who strived to understand the brain.