Medicine
-
McLeod syndrome (MLS) is a rare X-linked neurohematologic disorder caused by loss-of-function mutations in the XK gene. However, variations in the XK gene remain to be elucidated. Here, we report the clinical phenotype and genetic features of a patient with MLS caused by a novel frameshift mutation in the XK gene. ⋯ We describe a family with MLS caused by a novel frameshift mutation in the XK gene. The causes of the mild clinical presentation in the proband's mother require further investigation.
-
Case Reports
Unilateral branch retinal artery occlusion in a patient with systemic lupus erythematosus: A case report.
Ocular involvements in systemic lupus erythematosus (SLE) are not rare but extremely varied. Here we present a very meaningful case with unilateral branch retinal artery occlusion (BRAO) secondary to undetected SLE, for which immunotherapy showed significant effect, which led to complete resolution of macular edema. ⋯ This is a rare monocular vaso-occlusive retinopathy in SLE with mainly diffuse nonperfusion and small arterial and arteriolar occlusion in the retina, as distinct from more common vasculitis. Even without intravitreal injection of anti-VEGF, systemic immunotherapy can be effective for the treatment of macular edema.
-
Colonic lipomas are benign tumors of adipose tissue that are often asymptomatic, but they may present with rectal bleeding or obstructive symptoms. These tumors are unique in that they are rarely encountered within the gastrointestinal system and can mimic malignant tumors in appearance. Surgical resection and endoscopic removal of tumors have been shown to be successful in their management. ⋯ Colonic lipomas are benign mesenchymal tumors of the gastrointestinal system with a male predominance and are observed within the fourth to sixth decades of life. Various genetic abnormalities have been reported and they have been linked to the formation of intussusception. The squeeze sign on radiological imaging, cushion sign and tenting sign in colonoscopy, and naked fat sign during pathologic examination is helpful towards reaching a diagnosis. Surgical resection is the treatment of choice but minimally invasive endoscopic approaches have also been shown to be successful.
-
Septic cavernous sinus thrombosis (SCST) is a rare but life-threatening condition that commonly arises from infections, including paranasal sinusitis, otitis media, and skin infection. Meanwhile, head trauma as a predisposing factor of SCST has been scarcely reported. We report a case of SCST complicated by meningitis after minor head trauma, even in the absence of identifiable fractures. ⋯ Minor head trauma is a rare but possible cause of SCST. Early recognition and prompt treatment are essential for improving outcomes. Moreover, close observation is warranted, even if apparent serious complications were absent during initial evaluations in minor head trauma.
-
X-linked chronic granulomatous disease (X-CGD) is an X-linked recessive disorder of the Nicotinamide adenine dinucleotide phosphate oxidase system that can cause primary immunodeficiency. Mutations in the CYBB gene located in Xp21.1 were accounting for X-CGD disease. More than 600 mutations have been identified as the cause of X-CGD in various populations worldwide. ⋯ The identification of these mutations in this study further expands the spectrum of known CYBB gene mutations and contributes to the genetic counseling and prenatal molecular diagnosis of X-CGD.