RESUMEN
Hyphema is rarely seen in neonates. Although most cases are secondary to instrument-assisted delivery, neonatal hyphema can occur spontaneously or result from an underlying coagulopathy. We report the case of an infant who was born with unilateral hyphema and was subsequently found to have gestational alloimmune liver disease-a condition where maternal antibodies attack the infant's liver, leading to a hypocoagulable state. Our patient was treated with topical prednisolone and cyclopentolate/phenylephrine, with subsequent resolution of the hyphema.
Asunto(s)
Glucocorticoides , Hipema , Humanos , Hipema/etiología , Hipema/diagnóstico , Hipema/tratamiento farmacológico , Recién Nacido , Femenino , Glucocorticoides/uso terapéutico , Embarazo , Prednisolona/uso terapéutico , Ciclopentolato/uso terapéutico , Ciclopentolato/administración & dosificación , Hepatopatías/diagnóstico , Hepatopatías/etiología , Hepatopatías/inmunología , Midriáticos/uso terapéutico , Midriáticos/administración & dosificación , Masculino , Quimioterapia CombinadaRESUMEN
Herpes simplex virus involvement of the orbit is rare. We report the case of an immunocompetent patient who presented with preseptal edema, erythema, decreased vision, and dacryoadenitis prior to the appearance of vesicular skin lesions and in the absence of corneal dendrites. The patient's clinical picture failed to improve on empiric therapy with intravenous antibiotics. The patient subsequently developed skin vesicles and a nucleic acid amplification swab of the ocular surface was positive for herpes simplex virus-1. The patient demonstrated rapid clinical improvement after initiation of oral antivirals. This is an unusual case of presumed herpes simplex virus dacryoadenitis preceding skin vesicles in an immunocompetent patient.
RESUMEN
PURPOSE: To report an unusual case of incomplete Vogt-Koyanagi-Harada (VKH) in a 14-Year-Old African American female. OBSERVATIONS: Here we present a 14-Year-Old African American Female with incomplete VKH who presented to the emergency department with a one-month history of malaise, fever, bilateral decreased vision and temporal headaches. At the time of presentation, she was found to have bilateral anterior uveitis and disc edema. The brain and orbit MRI were unremarkable, CSF analysis showed lymphocytic pleocytosis with negative cultures and gram stain. An extensive lab workup was unrevealing. CONCLUSION: This is an unusual case of incomplete VKH in a young African American female presenting with anterior uveitis and disc edema without serous retinal detachments. Initiation of high dose oral prednisone promptly after diagnosis resulted in rapid improvement of symptoms and improvement in visual acuity with the resolution of the disc edema. This case highlights the importance of considering VKH in the differential diagnosis of disc edema associated with uveitis, even in the absence of serous retinal detachment.
RESUMEN
Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG trinucleotide expansion in the huntingtin gene (HTT), which codes for the pathologic mutant HTT (mHTT) protein. Since normal HTT is thought to be important for brain function, we engineered zinc finger protein transcription factors (ZFP-TFs) to target the pathogenic CAG repeat and selectively lower mHTT as a therapeutic strategy. Using patient-derived fibroblasts and neurons, we demonstrate that ZFP-TFs selectively repress >99% of HD-causing alleles over a wide dose range while preserving expression of >86% of normal alleles. Other CAG-containing genes are minimally affected, and virally delivered ZFP-TFs are active and well tolerated in HD neurons beyond 100 days in culture and for at least nine months in the mouse brain. Using three HD mouse models, we demonstrate improvements in a range of molecular, histopathological, electrophysiological and functional endpoints. Our findings support the continued development of an allele-selective ZFP-TF for the treatment of HD.