RESUMO
The Vogt-Koyanagi-Harada syndrome (VKHS) is a unique form of granulomatous autoimmune disease that mostly impacts the pigmented tissues of the body. The main feature is bilateral granulomatous panuveitis, which is detected on ophthalmologic examination, along with additional systemic signs such as vitiligo, white hair, neurological involvement, or hearing loss. This study aims to report two cases of Vogt-Koyanagi-Harada syndrome presented in the children age group, which is unusual and very rare, to improve recognition of this disease to avoid complications and delay referral.
RESUMO
Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual disability, and distinctive facial features. Biallelic pathogenic variants of the LARP7, encoding a chaperone of 7SK noncoding RNA, is implicated in this disease. There are <35 reported cases in the literature. All reported cases share the same three cardinal features of the syndrome. Herein, we report on 12 patients with a confirmed diagnosis of AS from eight unrelated families. The cohort shares the same key feature of the syndrome. Moreover, we report additional phenotypic features, including genito-renal anomalies, ophthalmological abnormalities, and congenital heart disease. Whole-exome sequencing was used in all reported cases, implicating a clinical under-recognition of the syndrome. This report further expands the clinical and molecular characteristics of Alazami syndrome.
Assuntos
Nanismo , Deficiência Intelectual , Microcefalia , Nanismo/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Microcefalia/genética , Mutação , Fenótipo , RNA Nuclear Pequeno , Ribonucleoproteínas/genética , SíndromeRESUMO
Measles is a highly contagious infectious disease. Despite aggressive national initiatives to eradicate measles, outbreaks have occurred in recent years. We report three infants who presented to a tertiary care hospital in Muscat, Oman, in 2019 with measles and then developed pneumonitis, received intensive care treatment and made full recoveries. Infants can have an atypical presentation and develop severe symptoms. Pneumonitis is a serious complication and the management strategies are controversial. The early detection of measles and isolation of affected individuals play major roles in the elimination of measles outbreaks.
