ABSTRACT
Propionic acidemia is a disorder of branch-chain amino acids, the side chain of cholesterol and odd-chain fatty acid metabolism that leads to the accumulation of toxic acid metabolites. The clinical features typically begin shortly after birth, although they can also appear in young adulthood. We report the case of a 3-year-old boy with atypical onset, who at 6 months presented bursts of infantile spasms and a hypsarrhythmic electroencephalogram. He was treated with vigabatrin. At 8 months magnetic resonance imaging showed a wider than normal subarachnoidal space, and hyperintense thalamus, globus pallidus and subthalamic nucleus. Biochemical and genetic analysis confirmed propionic acidemia. Specific therapy was started and the patient is not currently under anti-epileptic treatment and his electroencephalogram is normal. This onset of propionic acidemia is unusual, and we believe that treatment with vigabatrin protected the basal ganglia from irreversible excitotoxic damage.
Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Propionic Acidemia , Spasm/etiology , Age of Onset , Child, Preschool , Humans , Infant , MaleABSTRACT
Yersinia enterocolitica infection presents a wide clinical spectrum; in infants and young children it usually presents as uncomplicated acute diarrhea, while in older children and adolescents it more frequently presents as terminal ileitis and/or mesenteric adenitis. We describe two infants who developed terminal ileitis complicating Y. enterocolitica infection, which is exceptionally rare. The clinical, laboratory and radiologic findings are described and ultrasound study is emphasized as a simple and reliable tool for investigation of terminal ileitis.
Subject(s)
Crohn Disease/microbiology , Yersinia Infections/diagnosis , Yersinia enterocolitica , Crohn Disease/diagnosis , Humans , Infant , MaleABSTRACT
Dentro del amplio espectro clínico de la infección por Yersinia enterocolitica, en los lactantes y niños pequeños la manifestación más frecuente es la diarrea aguda que cursa sin complicaciones. En los niños mayores y adolescentes suele presentarse con más frecuencia como una ileítis terminal y/o adenitis mesentérica. Se presentan dos casos de ileítis terminal durante una infección por Y. enterocolitica en lactantes, hecho excepcional en la literatura médica, y se describen los datos clínicos y exámenes complementarios más relevantes, entre los que destaca la ecografía, prueba fiable y sencilla, que nos documenta dicha afectación
Yersinia enterocolitica infection presents a wide clinical spectrum; in infants and young children it usually presents as uncomplicated acute diarrhea, while in older children and adolescents it more frequently presents as terminal ileitis and/or mesenteric adenitis. We describe two infants who developed terminal ileitis complicating Y. enterocolitica infection, which is exceptionally rare. The clinical, laboratory and radiologic findings are described and ultrasound study is emphasized as a simple and reliable tool for investigation of terminal ileitis
