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.

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.