ABSTRACT
Syphilis is a re-emerging infectious disease in Western Europe. Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. This disease is easily curable by a simple antibiotic treatment. Because of systematic antenatal screening it should no longer exist in industrialized countries. Nevertheless, we report a case of a six-week-old infant with a delayed diagnosis of congenital syphilis. Physicians, especially gynaecologists, obstetricians and paediatricians, have to be vigilant in order to allow for early diagnosis and appropriate treatment of congenital syphilis.
Subject(s)
Syphilis, Congenital/diagnosis , Anti-Bacterial Agents/therapeutic use , Delayed Diagnosis , Female , Humans , Infant , Male , Penicillin G Benzathine/therapeutic use , Pregnancy , Pregnancy Complications, Infectious/diagnosis , Pregnancy Complications, Infectious/prevention & control , Syphilis/diagnosis , Syphilis/transmission , Syphilis, Congenital/drug therapy , Syphilis, Congenital/prevention & control , Syphilis, Congenital/transmissionABSTRACT
UNLABELLED: We report 1 case of Kawasaki disease in young infant, featuring atypical presentation and severe outcome. CASE REPORT: A 3-month-old patient was admitted with initial cervical lymphadenitis, and lasting fever. He subsequently developed the classical manifestations of Kawasaki disease. Treatment with intravenous gamma globulins was successful only after a second perfusion. The early echocardiography revealed a coronary vasculitis, which progressed rapidly and was followed by complications as right coronary thrombosis, several aneurysms, and some others as exsudative enteropathy, aseptic meningitis and hepatitis. CONCLUSION: Patients less than 6 months with Kawasaki disease are at increased risk of atypical presentation, severe prognosis and are often predicted to be non-responsive to the first administration of IVIG.
Subject(s)
Mucocutaneous Lymph Node Syndrome/diagnosis , C-Reactive Protein/metabolism , Fever/etiology , Humans , Infant , Male , Mucocutaneous Lymph Node Syndrome/complications , Mucocutaneous Lymph Node Syndrome/diagnostic imaging , UltrasonographyABSTRACT
An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described. Molecular analysis detected a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P).
Subject(s)
Codon, Nonsense , Mucopolysaccharidosis III/diagnosis , Mucopolysaccharidosis III/genetics , Mutation, Missense , Sulfatases/deficiency , Sulfatases/genetics , Echocardiography , Female , Hepatomegaly/diagnosis , Hepatomegaly/genetics , Humans , Infant , Piperazines/pharmacology , Purines , Sildenafil Citrate , Splenomegaly/diagnosis , Splenomegaly/genetics , Sulfones , Time Factors , Vasodilator Agents/pharmacologyABSTRACT
The authors report on a case of cardiomyopathy with congestive heart failure in an infant with severe hypocalcemia related to vitamin D deficient rickets. The heart failure was successfully treated with calcium gluconate and vitamin D, associated with dobutamide.
