ABSTRACT
The authors report a case of a 3-month-old infant with a very rare association: cystic fibrosis and Kawasaki disease. The clinical picture is atypical but cardiovascular signs consist of cardiomegaly, sick sinus syndrome and Q waves in D II, D III and AVF. The diagnosis is confirmed by the pathological changes found at the postmortem examination. The patient is the first case of Kawasaki disease reported in Romania.
Subject(s)
Cystic Fibrosis/complications , Mucocutaneous Lymph Node Syndrome/complications , Anti-Bacterial Agents/therapeutic use , Cystic Fibrosis/diagnosis , Cystic Fibrosis/pathology , Female , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/pathology , Humans , Immunoglobulin G/therapeutic use , Infant , Mucocutaneous Lymph Node Syndrome/diagnosis , Mucocutaneous Lymph Node Syndrome/pathology , Pancreas/pathology , Sick Sinus Syndrome/diagnosis , Sick Sinus Syndrome/drug therapyABSTRACT
A 45,XX,-13, der(22), rcp(13;22)(q12;q13)mat karyotype was observed in a 7-month-old female with multiple congenital anomalies. Her mother is a balanced t(13;22)(q12;q13) carrier.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 13/ultrastructure , Monosomy , Chromosome Disorders , Female , Humans , Infant , Intellectual Disability/genetics , Translocation, GeneticABSTRACT
After reviewing recent data concerning the pathologic physiology of cystic fibrosis the authors present an anatomoclinical study of 30 infants, of which 13 neonates, with a diagnosis of mucoviscidosiss, emphasizing the clinical and pathohistologic polymorphism of this affection, and, particularly involvement of the liver and intestines. Specific hepatic lesions were encountered in only 10% of the group studied (Bodian biliary cirrhosis and mucus stoppers in the bile ducts). Unspecific hepatic lesions were dominant, common with those of neonatal hepatitis, and hepatic steatosis. Stress is laid on the presence of atrophy of the villi in children with hepatic steatosis, proof of a lesional substrate of malabsorption in this disease. The authors note the early onset of hepatic lesions, the gravity of the cases with an early clinical expression and hepatic biopsy puncture as the only method revealing hepatic affection in cystic fibrosis. In the first semester of life there exists purely digestive forms, hepatic steatosis and oedematous dystrophy in infants at this age being highly suspect of the etiology.
Subject(s)
Cystic Fibrosis/diagnosis , Cystic Fibrosis/pathology , Diagnosis, Differential , Fatty Liver/diagnosis , Fatty Liver/pathology , Humans , Infant , Infant, Newborn , Intestinal Obstruction/diagnosis , Intestinal Obstruction/pathology , Intestine, Small/pathology , Liver/pathology , Lung/pathology , Meconium , Pancreas/pathology , Respiratory Tract Diseases/diagnosis , Respiratory Tract Diseases/pathologySubject(s)
Acquired Immunodeficiency Syndrome/physiopathology , Pneumonia, Pneumocystis/physiopathology , Acquired Immunodeficiency Syndrome/diagnosis , Humans , Infant , Infant, Newborn , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/physiopathology , Pneumonia, Pneumocystis/pathology , Retrospective Studies , Thymus Gland/pathologySubject(s)
Cystic Fibrosis/diagnosis , Animals , Child , Child Nutritional Physiological Phenomena , Child, Preschool , Cystic Fibrosis/complications , Cystic Fibrosis/immunology , Cystic Fibrosis/metabolism , Diagnosis, Differential , Diet Therapy , Digestive System Diseases/diagnosis , Digestive System Diseases/etiology , Feeding and Eating Disorders/diagnosis , Feeding and Eating Disorders/etiology , Female , Humans , Immune System Diseases/diagnosis , Immune System Diseases/etiology , Infant , Infant, Newborn , Liver/pathology , Lung Diseases/diagnosis , Lung Diseases/etiology , Metabolism, Inborn Errors/metabolism , Pancreas/pathology , Pregnancy , Prenatal Diagnosis/methods , SweatingSubject(s)
Neonatology/trends , Adaptation, Physiological , Diagnosis, Differential , Humans , Infant Nutritional Physiological Phenomena , Infant, Newborn , Infant, Newborn, Diseases/diagnosis , Infant, Newborn, Diseases/drug therapy , Infant, Newborn, Diseases/prevention & control , Infant, Premature , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/drug therapy , Infant, Premature, Diseases/prevention & control , PrognosisABSTRACT
Nine cases of congenital hemihypertrophy of an entire half of the body ("true" hemihypertrophy) were investigated in relation to literature data. The left side was more often affected (7:2) and the abnormality was more frequent in females (5:4). Associated abnormalities were present in all cases: a single abnormality in 3 cases (mental retardation, iris heterochromia and, respectively, left foot gigantism) and 3 to 13 abnormalities in the other 6 cases. Prominent hemiface, asymmetric macroglossia on the affected side, unequally developed breasts, unilateral gigantism of the foot, iris heterochromia, duplication of the renal pelvis, were considered important signs which easily draw attention. Out of nine cases investigated, three presented associated tumors: two tumors, one cerebral (malignant ependymoma) and the other hepatic (cavernous hemangioma) in one case, hepatoblastoma in another case, and multiple skin angiomas in the affected side of the third one. The case presenting two tumors had also the greatest number (twelve) of associated abnormalities.
Subject(s)
Abnormalities, Multiple , Adolescent , Adult , Brain Neoplasms/complications , Child, Preschool , Eye Abnormalities , Face/pathology , Facial Hemiatrophy/complications , Female , Humans , Hypertrophy , Infant , Iris , Liver Neoplasms/complications , Macroglossia/complications , Male , Scoliosis/complications , Skin Neoplasms/complicationsSubject(s)
Emergencies , Hematologic Diseases/therapy , Hemorrhage/therapy , Anemia/complications , Blood Coagulation Disorders/complications , Child , Child, Preschool , Disseminated Intravascular Coagulation/complications , Hematologic Diseases/complications , Hematologic Diseases/diagnosis , Hemophilia A/complications , Hemorrhage/complications , Hemorrhage/etiology , Humans , Infant , Purpura/complications , Reye Syndrome/complicationsABSTRACT
184 cases of acute poststreptococcal glomerulonephritis were investigated and six of these were associated with a peculiar, uncommon pneumonia, and another one had a lethal course. The clinicoradiological and especially pathological data summarized in this study attempt to demonstrate the individuality of this type of pneumonia. Pneumonia associated with acute poststreptococcal glomerulonephritis is similar or identical to rheumatic pneumonia. In both entities, pneumonia and pulmonary edema may and do coexist, and the differentiation of pneumonia from congestive heart failure is difficult and often impossible without pathological evidence. The most attractive pathogenic interpretation is the hypothesis of an immune mechanism in the induction of pneumonia. Authors attributed the lung changes, consecutive to a vascular damage, to a hypersensitivity phenomenon, with accumulation of fibrinogen in alveoli where it is converted to fibrin. Then, the hyaline membrane lining the alveoli, an important feature of pneumonia associated with glomerulonephritis is built up. It is, however, plausible that the effect of the immune reaction is associated with those of hydrosaline retention, arterial hypertension and congestive heart failure. Analogous to rheumatic pneumonia, the "peculiar pneumonia" associated with acute poststreptococcal glomerulonephritis should be named nephritic pneumonia.
