[Diaphragmatic eventration or hernia].
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UNLABELLED: Neonatal Marfan syndrome, the most severe presentation of Marfan syndrome phenotypes (MIM 154700), is characterised mainly by joint contractures, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema. Death usually occurs within the first 2 years of life from congestive heart failure. We describe here a newborn male with many typical characteristics of neonatal Marfan syndrome associated with a diaphragmatic eventration and a bilateral uretero-hydronephrosis with bladder dilatation. He died from cardiac failure due to severe tricuspid and mitral regurgitation at 62 h of age. CONCLUSION: Molecular analysis showed a heterozygous missense mutation at nucleotide 3165 (3165T>G) in exon 25 of the FBN1 gene, resulting in the substitution of cysteine for tryptophan (C1055W).
The Authors report the case of a fifty-nine-year-old patient, affected by complete eventration of the left diaphragm and cranial stomach dislocation with axial volvulus, associated with an upward movement of part of the left colon and some jejunal loops. The subclinical condition had been occasionally discovered during a routine chest X-ray at the age of eighteen and the patient remained without symptoms up to five years ago, when he began to show significant digestive and cardiorespiratory symptoms. The patient has been successfully treated via thoracotomy with phrenic alloplastic using Gore-Tex patch and has obtained an immediate remission of the symptoms. Left diaphragmatic eventration of the adult is a rare pathology, either congenital or acquired, with few and definite surgical indications such as severe digestive and cardiorespiratory symptoms. Different surgical techniques including the use of patches are herein illustrated.
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Numerous case reports in the literature have suggested a causal link between beta-haemolytic streptococcal infection and delayed-onset right-sided diaphragmatic hernia/eventration in the perinatal age group. We report a child with antenatally documented right diaphragmatic eventration 4 weeks before birth who subsequently developed a beta-haemolytic streptococcal infection in the neonatal period.
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A 1-yr-old male leopard (Panthera pardus) presented for intermittent anorexia, emaciation, and generalized muscle wasting. Plain radiographs, ultrasonography, and esophageal endoscopy led to a diagnosis of diaphragmatic eventration with probable concurrent hiatal hernia. An exploratory laparotomy confirmed both diagnoses, and surgical repair and stabilization were performed. After surgery, the leopard was maintained on small liquid meals for 4 days, with a gradual return to normal diet over 2 wk. By 4 wk after surgery, the leopard was eating well and gaining weight, and it showed no recurrence of clinical signs for 2 yr subsequently, becoming mildly obese.
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