1/6. Infantile infection and diabetes insipidus in children with optic nerve hypoplasia.BACKGROUND: Bilateral optic nerve hypoplasia (BONH) is often associated with other central nervous system midline abnormalities (septo-optic dysplasia). Hormonal dysfunction, caused by anterior (cortisol) and posterior (ADH) pituitary involvement, can be sudden, severe, and life threatening. methods: Case series. Three cases of septo-optic dysplasia (SOD) presenting as infantile infection with associated diabetes insipidus are reported. The diagnosis of SOD was suspected only after ophthalmological evaluation; further evaluation led to the diagnosis of panhypopituitarism. CONCLUSIONS: A high index of suspicion is required to diagnose SOD in children when the disorder presents with infantile infection and hypernatraemia. Early warning signs of neonatal jaundice and hypoglycaemia should prompt ophthalmological evaluation.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/6. Ocular pathologic features of arteriohepatic dysplasia (Alagille's syndrome).Arteriohepatic dysplasia (Alagille's syndrome), an autosomal dominant condition involving jaundice caused by a developmental scarcity of intrahepatic bile ducts, has characteristic cardiovascular, skeletal, facial, and ocular features that distinguish it from extrahepatic biliary atresia and an array of other neonatal intrahepatic cholestatic disorders. Two children who died of this syndrome had prominent Schwalbe's rings with attached iris strands characteristic of Axenfeld's syndrome. Additional histologic findings of iris atrophy and stromal nodules, however, made the designation Axenfeld-Reiger's syndrome more appropriate. Pigmentary retinopathy, degeneration of Bruch's membrane, and prominent lipofuscin deposition in the ciliary muscle noted in one of the patients were not regarded as primary changes of Alagille's syndrome, but were believed to be secondary to acquired deficiency of the fat-soluble vitamins A and E. Early recognition of the ocular changes in arteriohepatic dysplasia is helpful in establishing the proper diagnosis to avoid unnecessary abdominal surgery and institute vitamin therapy.- - - - - - - - - - ranking = 231533.45250189keywords = arteriohepatic, arteriohepatic dysplasia, dysplasia (Clic here for more details about this article) |
3/6. Arteriohepatic dysplasia (alagille syndrome): extreme variability among affected family members.We describe a three-generation family in which five individuals have arteriohepatic dysplasia (alagille syndrome) with striking differences in the degree of severity. Two sisters presented with neonatal jaundice, peripheral pulmonic stenosis, and characteristic facial appearance including a broad forehead, deep-set eyes, prominent nose, and pointed chin. One died at 5 years of cirrhosis with portal hypertension and the other at 18 months of congestive heart failure. Their asymptomatic 32-year-old mother and 35-year-old maternal aunt have a similar facial appearance, pulmonic stenosis, skeletal anomalies, and bilateral posterior embryotoxon. Neither has evidence of clinical liver disease. The maternal grandfather, who refused evaluation, has a similar appearance, a history of liver disease, and a heart murmur. Extreme intrafamilial variability has not been reported previously and most affected individuals described in the past have followed a benign course. The pattern of severity in this family suggests the possibility of a maternal factor augmenting the clinical expression in affected offspring. The skeletal anomalies and posterior embryotoxon are valuable signs in detecting asymptomatic but affected individuals who are at risk for having offspring with this potentially lethal condition.- - - - - - - - - - ranking = 46308.590500378keywords = arteriohepatic, arteriohepatic dysplasia, dysplasia (Clic here for more details about this article) |
4/6. Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).The ocular findings in a father and two offspring with arteriohepatic dysplasia are reported in this paper. All three people had bilateral posterior embryotoxon, Axenfeld's anomaly and a pigmentary retinopathy. Other ocular findings were exotropia, an ectopic pupil, band keratopathy, choroidal folds, anomalous optic discs and infantile myopia. persons with arteriohepatic dysplasia typically present with prolonged neonatal jaundice. Cognizance of the associated eye findings helps distinguish this syndrome from other types of familial intrahepatic cholestasis.- - - - - - - - - - ranking = 277839.54300227keywords = arteriohepatic, arteriohepatic dysplasia, dysplasia (Clic here for more details about this article) |
5/6. Probable graft-vs-graft reaction in an infant after exchange transfusion and marrow transplantation.A newborn with graft-vs-host (GVH) disease following an exchange transfusion was treated by attempting to eradicate the incompatible graft and to reconstitute the child hematologically and immunologically with a bone marrow transplant. The patient was a female term infant (blood group B, Rh coombs test positive) who received a one-unit group O, Rh- exchange transfusion from an unrelated female donor for hyperbilirubinemia due to ABO incompatibility on day 2. Signs of acute GVH disease began on day 8 and the clinical diagnosis was supported by skin biopsy. With antithymocyte globulin and high dose dexamethasone, the GVH reaction improved somewhat. cyclophosphamide, 200 mg/kg total dose, was given over four days followed by a marrow graft from a brother who was HLA-A, B identical, and probably also D locus compatible in mixed lymphocyte culture. All signs of GVH resolved with cyclophosphamide treatment and hematologic reconstitution was evident by 14 days after transplant. Two weeks later the GVH reaction and aplastic anemia recurred and Y chromatin was detected in only 6% of marrow cells. The infant died on day 80. autopsy showed disseminated candidiasis, disseminated cytomegalovirus infection, thymic dysplasia, hypoplastic marrow, and other histopathologic changes consistent with GVH disease. The persistence of female cells in blood and bone marrow and the destruction of the reconstituted marrow suggest that the original incompatible transfusion-derived graft was not eliminated and that it ultimately rejected the histocompatible marrow graft.- - - - - - - - - - ranking = 0.5keywords = dysplasia (Clic here for more details about this article) |
6/6. New variant of congenital dyserythropoietic anemia with trilineage myelodysplasia.We report the case of a male infant with a variant of congenital dyserythropoietic anemia (CDA), who developed severe hyperbilirubinemia on the day of birth, subsequent severe anemia, and hyperferritinemia. bone marrow and laboratory examinations revealed features of CDA including trilineage myelodysplasia and erythroblasts with a binucleated nuclear morphology and ineffective erythropoiesis. The CDA in this patient was assumed to be a new variant type because of: the lack of internuclear chromatin bridges in the erythroblasts with abnormal nuclear morphology; a negative acid serum test; the presence of erythrocyte antigen I, and the effect of splenectomy. Trilineage myelodysplasia in CDA is not known. An abnormality in the stem cells was suggested to be the cause of CDA in this case.- - - - - - - - - - ranking = 3keywords = dysplasia (Clic here for more details about this article) |