ABSTRACT
We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.
Subject(s)
Abnormalities, Multiple/pathology , Brain Stem/pathology , Glaucoma/pathology , Neurodegenerative Diseases/pathology , Atrophy , Brain Stem/diagnostic imaging , Fatal Outcome , Female , Humans , Infant , Male , Tomography, X-Ray ComputedABSTRACT
PURPOSE: To report a case of necrotising fasciitis which was managed successfully with timely intervention. CASE REPORT: A 77-year-old lady diagnosed as having narcotizing fasciitis of the orbit based on the clinical picture and microbiology report is presented. Early recognition of the condition followed by timely surgical intervention in the form of surgical debridement and subsequent exenteration led to a favorable prognosis. DISCUSSION: Necrotising fasciitis is a fulminant synergistic infection. It spreads along facial planes causing necrosis of the overlying skin. Management of this condition includes both medical treatment and surgical debridement. Early intervention is of vital importance to save the patient's life as septicemia often leads to death within 24-96 hours. CONCLUSIONS: Early recognition and treatment are the key to successful management of cases with necrotising fasciitis of the orbit.
Subject(s)
Eye Infections, Bacterial/diagnosis , Fasciitis, Necrotizing/diagnosis , Orbital Diseases/diagnosis , Staphylococcal Infections/diagnosis , Streptococcal Infections/diagnosis , Aged , Debridement , Eye Enucleation , Eye Infections, Bacterial/microbiology , Eye Infections, Bacterial/therapy , Fasciitis, Necrotizing/microbiology , Fasciitis, Necrotizing/therapy , Female , Humans , Orbital Diseases/microbiology , Orbital Diseases/therapy , Staphylococcal Infections/microbiology , Staphylococcal Infections/therapy , Staphylococcus aureus/isolation & purification , Streptococcal Infections/microbiology , Streptococcal Infections/therapy , Streptococcus/isolation & purificationSubject(s)
Lupus Coagulation Inhibitor/blood , Retinal Artery Occlusion/immunology , Adult , Biomarkers/blood , Female , Follow-Up Studies , Humans , RecurrenceSubject(s)
Central Nervous System Neoplasms/pathology , Neoplasms, Nerve Tissue/pathology , Peripheral Nervous System Neoplasms/pathology , Animals , Central Nervous System Neoplasms/etiology , Central Nervous System Neoplasms/veterinary , Mice , Neoplasms, Nerve Tissue/etiology , Neoplasms, Nerve Tissue/veterinary , Peripheral Nervous System Neoplasms/etiology , Peripheral Nervous System Neoplasms/veterinary , Precancerous Conditions/pathology , Rodent Diseases/pathologyABSTRACT
A patient is presented who had unrecognised Wilson's disease. He had developed a clinically obvious Kayser-Fleischer ring in only one eye. The eye without the corneal ring had been injured in childhood and had a low intraocular pressure. Possible mechanisms for formation of a Kayser-Fleischer ring are reviewed and the lack of Kayser-Fleischer ring in this case is discussed.
