Imaging findings in pulmonary lymphangiectasia

We present the imaging findings of 4 newborns and 1 child affected by pulmonary lymphangiectasis (PL). Congenital PL is a rare developmental disorder involving the lung. Pulmonary lymphangiectasis is characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. Both frequency and etiology are unknown. At birth, PL presents with severe respiratory distress, tachypnea, and cyanosis, with a very high mortality rate at or within a few hours of birth. Bilateral lung reticular appearance, peribronchial cuffing, and bilateral pleural effusions on radiographic chest evaluation are very suggestive of PL. Bilateral septal and peribronchial interstitial thickening are well evidentiated by high-resolution CT. Radiological studies, together with history and clinical data may lead to a diagnosis of PL in most cases. Lymphoscintigraphy, bronchoscopic and pleural effusion evaluation, and if necessary, lung biopsy are useful tools for confirming PL diagnosis

Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia

Six newborns that presented at birth with nonimmune hydrops fetalis and for whom no cause could be found were investigated for the presence of lymphatic dysplasia. Careful analysis led to findings of some degree of lymphatic dysplasia in all patients. This suggests that lymphatic dysplasia may represent at least part of the causes that are responsible for the "idiopathic" form of nonimmune hydrops fetalis. Carefully searching for lymphatic dysplasia in these patients, and if indicated in their relatives, as well as establishing the exact nature of the lymphatic dysplasia must be carried out so as to provide proper genetic counseling to families with nonimmune hydrop

Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia

We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal lymphangiectasia. The association of intestinal lymphangiectasia and aplasia cutis, and the association of intestinal lymphangiectasia with brain heterotopia in the lymphedema-lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene. (C) 2004 Wiley-Liss, In

Immunohistochemistry in Non-Immune Hydrops Fetalis: A Single Center Experience in 79 Fetuses

The objective of our study was to evaluate the usefulness of immunohistochemical (IHC) staining techniques in the etiological diagnosis of non-immune hydrops fetalis (NIHF). The records of all 1,098 autopsies performed between January 1987 and May 2008, by the Division of Fetal Pathology of the University of Genoa, were reviewed and all 79 fetuses diagnosed with NIHF were re-evaluated. Additional IHC staining using antibodies that specifically stain blood and lymph vessels (CD31, CD34, smooth muscle actin antibody, D2-40) were performed. Results were compared to results from the literature. Our results showed that in 67/79 cases, evaluation by standard autopsy protocol led to an etiologic diagnosis. Furthermore, we were able to identify the pathogenetic mechanisms that eventually caused NIHF in 42/79 cases. Adding IHC staining to all evaluations identified the pathogenetic mechanism in a further 17 cases (total 59/79 cases). Lymphatic dysplasia was diagnosed by standard autopsy protocol in 1/79(1.3%), while adding IHC staining resulted in 18/79 (22.8%) cases being diagnosed (P=0.0001). The present rate of 22.8% of lymphatic dysplasia in non-immune hydrops fetalis is significantly higher than reported in the literature (36/818 or 4.4%; P=0.01). In conclusion, specific IHC staining techniques aimed at detecting lymphatic dysplasia are needed and should be mandatory in autopsies of fetuses with non-immune hydrops fetalis. (C) 2010 Wiley-Liss, In

Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome.

International audienceWe describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity