ABSTRACT
A case of ectrodactyly characterized by simple absence of the third finger of the right hand is reported. Clinical and genetic aspects are considered.
Subject(s)
Fingers/abnormalities , Hand Deformities, Congenital/genetics , Child , Child, Preschool , Fingers/diagnostic imaging , Hand Deformities, Congenital/diagnostic imaging , Humans , Infant, Newborn , Male , RadiographyABSTRACT
A case of primary congenital lymphedema is reported. Asymmetrical involvement of the low limbs and unremarkable family history for lymphedema (indicating of de novo mutation) was the main findings.
Subject(s)
Lymphedema/congenital , Diagnosis, Differential , Female , Humans , Infant , Lymphedema/geneticsSubject(s)
Hip Joint , Synovitis , Age Factors , Child , Child, Preschool , Diagnosis, Differential , Female , Hip Joint/diagnostic imaging , Humans , Magnetic Resonance Imaging , Male , Radiography , Synovitis/diagnostic imaging , Time Factors , UltrasonographyABSTRACT
The authors report a case of Kawasaki disease observed in a 3-years and 6-months-old girl, with pericardial effusion and premature cardiac beats. The pericardial effusion disappeared after gamma-globulin i.v. treatment (2 gr/kg); the premature cardiac beats, although progressively reducing, completely disappeared only after 6 months.
Subject(s)
Cardiac Complexes, Premature/diagnosis , Mucocutaneous Lymph Node Syndrome/diagnosis , Pericardial Effusion/diagnosis , Aspirin/administration & dosage , Cardiac Complexes, Premature/etiology , Cardiac Complexes, Premature/therapy , Child, Preschool , Female , Humans , Immunoglobulins, Intravenous/administration & dosage , Mucocutaneous Lymph Node Syndrome/complications , Mucocutaneous Lymph Node Syndrome/therapy , Pericardial Effusion/etiology , Pericardial Effusion/therapy , Remission Induction , Time FactorsABSTRACT
The Authors report one case of suppurative thyroiditis in a 21-months-old girl and debate the principal aspects.
Subject(s)
Thyroiditis, Suppurative/diagnosis , Thyroiditis/diagnosis , Acute Disease , Diagnosis, Differential , Female , Humans , Infant , UltrasonographySubject(s)
Arrhythmias, Cardiac/therapy , Age Factors , Anti-Arrhythmia Agents/therapeutic use , Arrhythmias, Cardiac/diagnosis , Cardiac Complexes, Premature/diagnosis , Cardiac Complexes, Premature/therapy , Child , Child, Preschool , Heart Block/congenital , Heart Block/therapy , Humans , Infant , Infant, Newborn , Tachycardia, Paroxysmal/diagnosis , Tachycardia, Paroxysmal/therapy , Tachycardia, Supraventricular/diagnosis , Tachycardia, Supraventricular/therapyABSTRACT
The value of serum thyroglobulin (Tg) determination in the differential diagnosis of congenital hypothyroidism was assessed by serum Tg measurements in 14 patients with proven congenital hypothyroidism, in 3 subjects with transient perinatal hypothyroidism, in 3 newborns with congenital thyroxine binding globulin (TBG) deficiency and in 34 normal controls. Serum Tg was undetectable in all 6 cases with thyroid agenesis, normal or moderately elevated in the 4 cases with ectopic thyroid, markedly increased in the 4 cases with dyshormonogenic goiter and normal in the 3 cases with transient hypothyroidism and in the 3 with TBG deficiency. The present data indicate that serum Tg measurements may be useful in the differentiation of athyreotic hypothyroidism from other conditions of congenital hypothyroidism.
