ABSTRACT
El síndrome periódico asociado a la criopirina es una enfermedad rara y probablemente infradiagnosticada. Se presenta con manifestaciones sistémicas, entre ellas oftalmológicas, muy diversas, por lo que su diagnóstico supone un reto para el clínico. Presentamos el caso de una niña de 4 años en la que la identificación de papiledema en el examen oftalmológico constituyó el signo guía para el diagnóstico de síndrome periódico asociado a la criopirina. Pretendemos así concienciar sobre esta enfermedad de graves implicaciones y cuyo diagnóstico precoz resulta esencial para los afectados, para que sea tenido en cuenta con mayor frecuencia como diagnóstico diferencial (AU)
Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis (AU)
Subject(s)
Humans , Female , Child, Preschool , Cryopyrin-Associated Periodic Syndromes/complications , Cryopyrin-Associated Periodic Syndromes/diagnosis , Papilledema/diagnostic imaging , Papilledema/etiology , Diagnosis, DifferentialABSTRACT
Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis.
Subject(s)
Cryopyrin-Associated Periodic Syndromes , Papilledema , Female , Humans , Child, Preschool , Cryopyrin-Associated Periodic Syndromes/complications , Cryopyrin-Associated Periodic Syndromes/diagnosis , Papilledema/etiology , Papilledema/complications , Diagnosis, DifferentialSubject(s)
Linear IgA Bullous Dermatosis/complications , Linear IgA Bullous Dermatosis/diagnosis , Anti-Infective Agents/therapeutic use , Anti-Inflammatory Agents/therapeutic use , Child, Preschool , Dapsone/therapeutic use , Fathers , Female , Humans , Linear IgA Bullous Dermatosis/drug therapy , Male , Middle Aged , Prednisone/therapeutic use , Pregnenediones/therapeutic useABSTRACT
No disponible
Subject(s)
Humans , Male , Middle Aged , Knee Injuries/complications , Leg Ulcer/etiology , Staphylococcal Skin Infections/diagnosis , Staphylococcal Skin Infections/microbiology , Wound Infection/microbiology , Black People , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Anti-Bacterial Agents/therapeutic use , Biopsy , Granulation Tissue/microbiology , Granulation Tissue/pathology , Leg Ulcer/drug therapy , Senegal/ethnology , Spain , Wound Infection/drug therapySubject(s)
Knee Injuries/complications , Leg Ulcer/etiology , Staphylococcal Skin Infections/diagnosis , Wound Infection/microbiology , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Anti-Bacterial Agents/therapeutic use , Biopsy , Black People , Granulation Tissue/microbiology , Granulation Tissue/pathology , Humans , Leg Ulcer/drug therapy , Male , Middle Aged , Senegal/ethnology , Spain , Staphylococcal Skin Infections/drug therapy , Staphylococcal Skin Infections/etiology , Staphylococcal Skin Infections/microbiology , Wound Infection/drug therapyABSTRACT
No disponible
