ABSTRACT
Mauriac syndrome consists of a triad of poorly controlled diabetes, profound growth retardation and hepatomegaly. We experienced a case of Mauriac syndrome in an 18-year-old girl who had poorly controlled diabetes mellitus, short stature, hepatomegaly and central obesity. Also at the time of examination, she had complications of diabetic cataract and nephropathy. Fourteen years prior to admission, she was diagnosed as diabetes mellitus at a hospital. Thereafter, she had been managed with irregular insulin injection. On physical examination at admission, her height was 135cm(<3 percentile) and her weight was 39kg(<3 percetile). She was short and obese. The liver was 5 cm palpable below the right subcostal margin. Her sexual maturation was Tanner stage I. On ophthalmologic examination, the cataracts were observed on both eyes and diabetic retinopathy was absent. Diabetic nephropathy could not be confirrned by kidney biopsy due to her mother's refusal. We studied the hormonal, radiographic and histological abnormalities. The hormonal study was normal and the bone age was by delayed as much as 10 years. The liver biopsy revealed glycogen accumulation in hepatocyte. She was consistent with Mauriac syndrome. She was managed by strict diabetic control with insulin therapy, diabetic diet and intensive education. She was discharged with well controlled blood glucose. Five months later, growth acceleration and sexual maturation have not been observed, but hepatomegaly subsided. (J Korean Pediatr Soc 2000;43-837-841)
Subject(s)
Adolescent , Female , Humans , Acceleration , Biopsy , Blood Glucose , Cataract , Diabetes Mellitus , Diet, Diabetic , Diabetic Nephropathies , Diabetic Retinopathy , Disulfiram , Education , Glycogen , Hepatocytes , Hepatomegaly , Insulin , Kidney , Liver , Obesity, Abdominal , Physical Examination , Sexual MaturationABSTRACT
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosornal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital anomalies of the skull and extremities. Molecular biologically, he was found to have Ser252Try mutation in the FGFR2 exonIIIa. A brief review of literature was made.
Subject(s)
Humans , Infant , Male , Acrocephalosyndactylia , Congenital, Hereditary, and Neonatal Diseases and Abnormalities , Extremities , Fibroblast Growth Factors , Fibroblasts , Foot , Hand , Receptor, Fibroblast Growth Factor, Type 2 , Receptors, Fibroblast Growth Factor , Skull , SyndactylyABSTRACT
When dysfunction of two or more endocrine glands occurs in association with circulating organ specific antibodies directed against the involved glands, the term polyglandular autoimmune (PGA) syndrome is applied. This syndrome is usually classified into three groups. The autoimmune nature of this disease has been based on the presence of lymphocytic infiltration of the affected glands, organ specific autoantibody in serum, cellular immune defects and association with HLA DR/DQ genes. A 12-year-old girl developed PGA syndrome, type III manifesting Grave's disease and insulin-dependent diabetes mellitus. The thyroid microsomal Ab, TSH receptor Ab and pancreatic islet cell Ab were positive. She should be observed for the possible development of adrenal insufficiency and/or other autoimmune disease.
Subject(s)
Child , Female , Humans , Adrenal Insufficiency , Antibodies , Autoimmune Diseases , Diabetes Mellitus, Type 1 , Endocrine Glands , Islets of Langerhans , Receptors, Thyrotropin , Thyroid GlandABSTRACT
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a 18-month-old male infant. He showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Bone marrow aspirates showed characteristic foam cells. Autopsy finding revealed that liver, spleen, lung, lymph node and brain were involved. Reticular infiltration was shown on chest X-ray. We reported a case of type A Niemann-Pick disease with a brief review of the related literature.
Subject(s)
Humans , Infant , Male , Autopsy , Bone Marrow , Brain , Dyspnea , Foam Cells , Liver , Lung , Lymph Nodes , Mononuclear Phagocyte System , Niemann-Pick Disease, Type A , Niemann-Pick Diseases , Prunus , Spleen , ThoraxABSTRACT
No abstract available.
ABSTRACT
No abstract available.