ABSTRACT
No disponible
Subject(s)
Humans , Infant, Newborn , Male , Lactase/deficiency , Mutation/genetics , Malabsorption Syndromes/congenital , Diarrhea, Infantile/etiology , Dehydration/therapySubject(s)
Carbohydrate Metabolism, Inborn Errors/genetics , Lactase/deficiency , Mutation , Humans , Infant, Newborn , Lactase/genetics , MaleSubject(s)
Humans , Female , Infant , Anisocoria/complications , Bronchiolitis/complications , Miosis/physiopathology , Mydriasis/physiopathologySubject(s)
Anisocoria/complications , Bronchiolitis/complications , Female , Humans , Infant , Severity of Illness IndexABSTRACT
Se exponen dos casos de tirosinemia tipo I con presentación atípica. El primero se inicia con crisis convulsivas secundarias a hipoglucemias graves. En el estudio metabólico para el diagnóstico de las hipoglucemias se detecta un perfil típico de tirosinemia tipo I en sangre y orina. El segundo caso fue un hallazgo casual en el contexto de un ingreso por bronquitis. Ambos casos siguen tratamiento con 2-(2-nitro-4-trifluorometilbenzoil}-1-3-ciclohexanediona( NTBC) en combinación con dieta con bajo contenido en proteínas naturales suplementas con fórmula especial sin tirosina ni fenilalanina. En la actua.lidad no presentan alteraciones clínico-analíticas ni complicaciones
The authors describe two cases of tyrosinemia type 1 with atypical clinical presentation. The first patient presented with refractory seizure secondary to hypoglycemic episodes. The metabolic study for the differential diagnosis of hypoglycemi, revealed a pattern suggestive of tyrosinemia type I. In the second patient the presence of tyrosinemia was detected during a hospital stayowing to bronchitis. In both cases, treatment with 2-(2-nitro-4, trifluoromethylbenzoyl)-1,3-cyclohexane(NTBC) combine (with a low protein diet supplemented with a tyrosine-and phenylalanine-free formula was prescribed. There have beenn no complications during the follow-up period in either case and, at the present time, the clinical and analytical findings are normal
Subject(s)
Male , Female , Infant , Humans , Tyrosinemias/diagnosis , Bronchitis/complications , Hypoglycemia/complicationsABSTRACT
No disponible
Subject(s)
Child , Female , Humans , Pain , Periosteum , Chondroma , Diagnosis, Differential , Edema , Bone NeoplasmsABSTRACT
No disponible