Spondylothoracic dysplasia with diaphragmatic defect: a case report with literature review.

Spondylothoracic dysplasia (Jarcho-Levin syndrome) is a syndrome of unknown etiology. We describe a new case with diaphragmatic eventration. Literature review for cases of Jarcho-Levin syndrome with diaphragmatic defects, which were six cases, revealed that renal affection increased when diaphragmatic defects associate the syndrome with pulmonary hypoplasia. Thus, the subgroup of spondylothoracic dysplasia with diaphragmatic defect is a more severe subgroup of the syndrome rather than the other forms of this syndrome. Relating the described anomalies in this case and that of the literature cases to the known embryological basis may point to a pivotal developmental link between lung, kidney and diaphragm, possibly the posterior mesenchyme.

Enhanced expression of vascular endothelial growth factor in lungs of newborn infants with congenital diaphragmatic hernia and pulmonary hypertension.

BACKGROUND: Pulmonary hypoplasia accompanied by pulmonary hypertension resistant to treatment is an important feature of congenital diaphragmatic hernia (CDH). The pathogenesis of the pulmonary vascular abnormalities in CDH remains to be elucidated at the molecular level. Vascular endothelial growth factor (VEGF), an endothelial cell specific mitogen, is known to play a role in pulmonary angiogenesis and vascular remodelling but there are no data on VEGF expression in patients with CDH. METHODS: Necroscopic lung specimens from 21 patients with CDH with lung hypoplasia and from seven age matched control newborn infants without lung hypoplasia were processed for immunohistochemical analysis using affinity purified anti-human VEGF antibodies. All the cases of CDH had pulmonary hypoplasia, indicated by a lung/body weight index of 200 microm) and small (<200 microm) pulmonary arteries, the most intense staining being in the medial smooth muscle cells of the small pulmonary arteries. Endothelial cells were positive for VEGF staining in patients with CDH but not in controls. CONCLUSIONS: This is the first study of VEGF expression in newborn infants with CDH. Increased levels of VEGF, especially in the small, pressure regulating pulmonary arteries, point to a potential role in vascular remodelling. This may reflect an unsuccessful attempt by the developing fetus to increase the pulmonary vascular bed in the hypoplastic lungs to alleviate the associated pulmonary hypertension.

Long-term evaluation of modified lateral anorectal myomectomy for low-segment Hirschsprung disease.

OBJECTIVES: To provide a simple myomectomy technique for low-segment Hirschsprung disease and evaluate the efficacy of the new modification. DESIGN: Case series of 19 patients followed up for 12 to 56 months (mean, 39.1 months). SETTING: Tanta University Hospital, Tanta, Egypt. PARTICIPANTS: Nineteen patients aged 4 months to 10 years complaining of chronic constipation, with radiological and clinical data suggestive of low-segment Hirschsprung disease proven by histological examination. INTERVENTION: Modified lateral anorectal myomectomy. MAIN OUTCOME MEASURES: Clinical and radiological improvement measured by postoperative barium enema, bowel habits, and patient's relief of symptoms. RESULTS: Seventeen of 19 patients improved clinically and 13 showed radiological improvement 3 years postoperatively. There was poor response in 2 patients, who were subjected to further Soave procedures. CONCLUSION: Modified lateral anorectal myomectomy is an effective and technically simple procedure in patients suspected of having low-segment Hirschsprung disease.

Segmental splenectomy and extraperitoneal splenic transposition with gastroesophageal devascularization in treatment of oesophageal varices. A new technique.

We evaluated segmental splenectomy and extraperitoneal splenic transposition with gastroesophageal devascularization (S.S.S.T.) in 30 patients with oesophageal varices (22 bleeders and 8 non-bleeders) and compared their results with those of 30 patients (22 bleeders and 8 non-bleeders) who underwent splenectomy and gastroesophageal devascularization in a randomised study. It was found (by endoscopy) after a follow-up period up to 3 years that after the operation S.S.S.T. the varices disappeared in 6.7%, reduced in 66.7% and did not change in 23.3% while in the compared operation of splenectomy and gastroesophageal devascularization only, oesophageal varices did not change in 90% and increased in grading in 10%. The percent reduction of portal pressure in our new S.S.S.T. technique was 30% after 9 months and 40.7%-60% after 2 years. This decreased portal pressure reading with longer follow-up period suggests that collaterals between the transposed splenic segment and the parieties may increase in number and/or caliber by increasing the blood flow through these collaterals. No recurrence of bleeding, no encephalopathy or mortality during the period of follow-up (3 years). No reenlargement of the transposed splenic segment (clinically and sonographically) up to 3 years of observation. Trans-segmental splenic venography and Digital Vascular Imaging (D.V.I.) had demonstrated collateral vessels between the transposed splenic segment and the parieties and reversed splenic blood flow. Also, D.V.I. showed a collateral vessel anastomosis with the renal parenchymal vessels (Splenorenal collateral or shunt).