RESUMEN
Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley-Salih-Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North America, respectively. Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 HOXA1 pathogenic variants.
Asunto(s)
Tronco Encefálico/anomalías , Pérdida Auditiva Sensorineural/patología , Proteínas de Homeodominio/genética , Homocigoto , Mutación , Malformaciones del Sistema Nervioso/patología , Trastornos de la Motilidad Ocular/patología , Fenotipo , Factores de Transcripción/genética , Adolescente , Adulto , Tronco Encefálico/patología , Femenino , Pérdida Auditiva Sensorineural/genética , Humanos , India , Masculino , Malformaciones del Sistema Nervioso/genética , Trastornos de la Motilidad Ocular/genética , Adulto JovenRESUMEN
BACKGROUND: Anatomy of circle of Willis (CW) shows wide variation in different individuals, population groups, and has vital clinical significance in causation and presentation of clinical disease. This study evaluates the anatomical variations, incidence of various common anomalies of CW in south Indian tertiary hospital set up, using three-dimensional time-of-flight (3D-TOF) magnetic resonance angiography (MRA). MATERIALS AND METHODS: A total of 300 patients referred for neuroimaging study over a period of 2-year were included in the analysis. In this prospective and retrospective study, 198 men and 102 women; mean age, 55 years) underwent 3D-TOF MR angiograms of the CW using a 1.5-tesla MR scanner. Images were reviewed for anatomical configuration of the CW using maximum intensity projection (MIP) and 3D volume rendered images. RESULTS: On analysis, a complete CW was seen in 50 (16.6%) of 300 subjects. An incomplete anterior and posterior CW was found in 66 (22%) The remaining 184 (61.3%) subjects had partially complete CW configuration. The most common type of CW in a single subject was anterior variant type A and posterior type variant E. CONCLUSION: We observed wide variation in CW configuration in our patients. The prevalence of complete configuration of the circle is 16.6%; slightly higher in females and younger subjects. Complete anterior circle was present in 77.3%. Most common anterior variant is type A (normal anterior configuration) with a prevalence of 66%. The most common posterior circle variant is type E (hypoplasia or absence of both PcomA) with 32.6%. Overall, CW variants are slightly more common among the women in comparison to men. Incidence of associated anomalies like aneurysm or arteriovenous malformation (AVM) was comparable to that described in literature.
