Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome.

Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic disease characterized by mental retardation and multiple congenital anomalies. The main pathology is the lack of the enzyme 3ß-hydroxysterol Δ7-reductase, which is the last enzymatic step in cholesterol synthesis, ending with a low cholesterol level. Cholesterol is vitally important in cell membranes and myelination of the nervous system. The cholesterol level affects many systems of the body, especially the nervous system. The cause of liver involvement in Smith-Lemli-Opitz syndrome is unclear, and many hypotheses have been suggested. Here, we present the early results of a patient with Smith-Lemli-Opitz syndrome who underwent living-donor liver transplant due to cirrhosis. As a result of liver transplant, normal cholesterol levels were shown, as well as improvements in the patient's neurodevelopment and behavior. Early liver transplant may be considered for patients with a defect of cholesterol biosynthesis, even in the absence of cirrhosis, and may be a future treatment option to prevent risks of neurologic deterioration.

Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies, and surgical interventions, as well as directions for future therapies and treatment research.

Surgical implications of the Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome (SLOS) is a syndrome of rare multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. Prior to receiving the diagnosis of SLOS, affected children may present as a neonatal surgical emergency with ambiguous genitalia, Hirschsprung's disease, and pyloric stenosis. We present two fatal cases of SLOS with near-total Hirschsprung's disease; the surgical, anaesthetic, and medical aspects of the cases are discussed, and a literature review is presented.

Smith-Lemli-Opitz syndrome: case report and literature review.

The authors report the case of a 6-week-old boy with the Smith-Lemli-Opitz-syndrome (SLOS) and review the literature on the subject. Intersexuality was suspected and a laparoscopy performed. Abnormalities of the gastrointestinal tract, the lower extremities, and the face prompted DNA analysis, which found a defect of cholesterol biosynthesis in the form of the Smith-Lemli-Opitz-syndrome, a rare congenital defect. The clinical course of this case is compared with similar cases in the literature.

Anesthetic considerations in Smith-Lemli-Opitz syndrome.

PURPOSE: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome characterized by congenital anomalies affecting the airway, cardiorespiratory, gastrointestinal, genitourinary, and central nervous systems. The presence of these anomalies as well as the potential for muscle rigidity with or without hyperthermia present challenges to anesthesia. This report describes our institution's experience with SLOS patients undergoing anesthesia in Canada. CLINICAL FEATURES: Three patients diagnosed with SLOS at McMaster University underwent a total of five anesthetics for diagnostic imaging and surgical procedures. The age of the patients ranged from two months to four years. Four intravenous anesthetics and one balanced general anesthetic were administered. One patient was noted to have a diminished laryngoscopic view but no difficult intubations were encountered. One patient required re-intubation due to upper airway obstruction related to the surgical procedure in the postoperative period. No cardiovascular, respiratory, or temperature complications were experienced. CONCLUSION: This report describes the anesthetic management in three patients with SLOS. Although the syndrome raises a number of potential anesthetic concerns, few complications were seen. This is consistent with other cases reported in the literature, which is reviewed in this report.

[Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome]. / Wady wrodzone ukladu moczowo-plciowego u dzieci z zespolem Smitha-Lemlego-Opitza.

Smith-Lemli-Opitz (SLO) syndrome is an autosomal, recessive condition. The essence of SLO is abnormal metabolism of cholesterol which is characterized by decreased level of cholesterol and increased level of 7-dihydrocholesterol in serum. The main clinical features are mental retardation and congenital malformations of various organs and systems--microcephaly, syndactyly, craniofacial anomalies, cleft palate and genitourinary system, mainly external genitalia. We analyzed the group of 12 children (2 girls and 10 boys) treated due to SLO in The Children's Memorial Health Institute since 1982 to 1997. In boys we diagnosed: penile curvature; hypospadia without hypospadias; glandular, penile and scrotal hypospadia, undescended; hydrocele testis; mild unilateral hydronephrosis and in girls we reported moderate hypertrophy of clitoral preputium and stenosis of external urethral meatus. The surgical treatment was planned.

Opitz syndrome in a Japanese male.

There have been only a few reports on Opitz syndrome in Japan. We report here a case of a Japanese male with canthal hypertelorism, bilateral cleft lip and palate, scrotal hypospadias with scrotal transposition, and cryptorchidism, findings that met the criteria for this syndrome. After repair of the cleft lip and palate, urethroplasty was performed at age 2, and bilateral orchiopexy was performed at age 3. At age 5, the child is of normal weight for his age, voids urine smoothly on standing, and has slight mental retardation.