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Severe lower limbs lymphedema of late onset revealing polysplenia syndrome--a case report.

Polysplenia syndrome includes a group of congenital abnormalities involving the spleen, gastrointestinal tract, liver, and cardiovascular system. A case of severe lower limbs lymphedema occurring in a young woman with polysplenia, azygous continuation of the inferior vena cava, short pancreas, and preduodenal portal vein is reported. Lower limb lymphedema could represent a new clinical manifestation associated with polysplenia syndrome. Lymphedema could be the result of a primary anomaly of the lymphatic system or be induced by high pressure in the venous system or by compression of the lymphatic circulation by the hypertrophic azygous vessels in the posterior mediastinum.

Abnormalities, Multiple↗

Spontaneous malformations in JW-NIBS rabbits.

The frequency of spontaneous anomalies among JW-NIBS rabbits in our laboratory is reported. The study was based on 1217 live fetuses obtained from 185 of an origin sample of 195 pregnant females; the remaining 10 (5.1%) aborted. Seven (0.57%) of the fetuses had the following external anomalies: multiple anomalies with craniofacial anomalies and thoraco-, gastroschisis (3 cases), microcephaly with open eyelids and microstomia (1), microphthalmia (1), anury (1) and brachyury (1). Among 1213 fetuses, 2 (0.16%) had abdominal visceral anomalies: agenesis of gall bladder and hypoplasia of the ovary were each found in one animal. Head and thoracic visceral anomalies were found in 6 (1.73%) of 347 fetuses, and skeletal anomalies in 6 (0.69%) of 867 fetuses. 4.03% of fetuses had 13 ribs.

Abnormalities, Multiple↗

Cocaine exposure in utero: perinatal development and neonatal manifestations--review.

The question of whether cocaine exposure in utero increases the risk of major structural malformations remains controversial. Most animal studies have demonstrated that cocaine can have a teratogenic effect. The ultimate association between cocaine exposure and fetal development must be inferred from human data. The relative effects of cocaine exposure, exposure to other illicit drugs and alcohol and deficient prenatal care are difficult to assess. Little specific information is available about the amount, duration, and timing of cocaine use during the nine months of pregnancy. Unlike the case with many other teratogens, cocaine exposure at any point in pregnancy can result in some abnormality. The extent of damage and the organ involved depend on the particular stage of morphogenesis. A large scale prospective human study is needed to confirm the suggested teratogenic effects. Since it involves an illicit drug such a study is obviously difficult to perform.

Abnormalities, Drug-Induced↗

Developmental anomalies in monozygous twins resembling the human homologue of the mouse mutant disorganization.

Human monozygous (Mz) twins are described with a pattern of abnormalities similar to those reported in heterozygous expression of the mouse mutant disorganisation gene (Ds). These include anomalies of the skeletal, gastrointestinal, genito-urinary and central nervous system. Concordance in Mz twins is suggestive of a genetic aetiology and lends further credence to the putative existence of a human homologue for Ds.

Abnormalities, Multiple↗

Disseminated mixed intestinal dysmotility (DMID): a new intestinal ganglion cell disorder?

We experienced two cases with disseminated HP and IND occurring with normal bowel in between (disseminated mixed intestinal dysmotility--DMID) and postulate whether it could be classified as a new intestinal motility disorder. Our cases, both boys, died at 3 and 7 months, respectively. Both had irregular stool passage, and abdominal distention with bilious vomiting since birth. On barium enema, both had rigid distal ileum and colon with narrow lumens, with dilated and atonic proximal ileum and jejunum. An ileostomy was created on days 3 and 2 of life, respectively, however, they did not function and jejunostomies were created, which also did not function well. Both boys died after repeated episodes of severe enterocolitis. In each case, three 10 cm specimens were obtained randomly from the jejunum and ileum, and two 5 cm specimens were obtained randomly from each of the ascending colon, transverse colon, descending colon, and rectum and treated with hematoxylin and eosin (H & E) staining, acetylcholine esterase (AchE) histochemistry, and protein gene product 9.5 (PGP9.5) and neural cell adhesion molecule (NCAM) immunohistochemistry for histopathologic assessment. All specimens showed a mixture of disseminated IND and HP, with normal intestine in between. There was abnormal expression of NCAM activity in the intestinal smooth muscle layers in small and large intestine. This is the first report about disseminated IND and HP occurring with normal bowel in between (DMID) and we suggest it should be classified as a new intestinal motility disorder. The present findings demonstrate that patients with DMID have a complicated abnormality of NMJ that may directly influence bowel motility and prognosis according to the severity of the abnormality.

Digestive System Abnormalities↗