Case report on laurence moon biedyl syndrome

Hemalatha, P.; Deepthi, R Chaitanya; Udayalakshmi, K; Nirmala, G; Lakshmi, P V M

doi:10.18203/2319-2003.ijbcp20171120

Cited by 1 publication

(1 citation statement)

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“…The main characteristics are retinitis pigmentosa with impairment mainly of the night and peripheral vision, nystagmus, polydactyly, marked central type obesity, mental retardation, hypogonadism, and renal dysfunction. Other signs that can be met are hepatic fibrosis, diabetes mellitus, neurological and speech deficiency, progressive weakness leading to paraplegia, behavior disorders, brachycephalia, facial dysmorphism, dental anomalies, and congenital heart block [2, 3]. The full range of features occurs in only 40-45% of cases [4].…”

Section: Discussionmentioning

confidence: 99%

Bardet-Biedl Syndrome with a Kidney Transplant, Esophageal Adenocarcinoma, and Postoperative Complications

Yankov

Mihalova

Petkov

et al. 2019

Case Reports in Surgery

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The authors present a rare clinical case of a patient with Bardet-Biedl syndrome and chronic kidney disease, who reached end-stage renal disease (ESRD) and underwent a long-term hemodialysis treatment, during which infections with Hepatitis C Virus (HCV) infection and Cytomegalovirus (CMV) infection were established. Kidney transplantation from an alive unrelated donor was performed. Later, an adenocarcinoma of the esophagus was diagnosed at an early stage, treated surgically with resection of the esophagus and gastroesophagoplasty afterward. Seven months later, a rare complication of the immunosuppressive therapy with Cyclosporin A occurred, which consisted of spontaneous bilateral pleural hemorrhage. The same, as well as the postoperative ventral hernia, was successfully resolved. Concomitant HCV was also treated. Rare autosomal recessive syndrome with severe complications, adenocarcinoma of the esophagus, spontaneous bilateral pleural hemorrhage after the operation, and successful treatment were discussed.

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Section: Discussionmentioning

confidence: 99%