Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome

McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication. We review the case of a child with MAS whose initial presentation was characterized by severe neonatal cholestasis. The case demonstrates a severe phenotype of persistent cholestasis in MAS requiring liver transplantation. This phenotype has been previously considered to be a more benign feature. This case highlights the importance of consideration of MAS as an uncommon but important cause of neonatal cholestasis. Early diagnosis may allow for prompt recognition and treatment of other endocrinopathies.

Rates and Technique for Oophoropexy in Pediatric Ovarian Torsion: A Single-Institution Case Series.

STUDY OBJECTIVE: Ovarian torsion (OT) is uncommon, but can result in loss of reproductive function. Traditionally managed using adnexectomy, torsed adnexae are now being conserved, increasing the potential for recurrent OT. As a result, some experts suggest oophoropexy (OP) to prevent recurrence. We report on a series of 11 patients who underwent OP. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: A retrospective case series was conducted from 2004 to 2013 to identify patients younger than the age of 18 years with OT. From this, data for patients with OP were extracted for detailed review. RESULTS: We identified 97 patients with OT; 6 of 97 (6.2%) had recurrent OT. The rate of recurrence was higher (14.8%, 4/27) in the group with torsion without an adnexal mass. Eleven of 97 patients (11.3%) underwent OP. The mean age of patients with OP was 8.8 years. Nine patients had normal adnexae at initial torsion. Five of 11 had OP during their initial procedure. OP was most commonly performed for long utero-ovarian ligaments (n = 6), recurrence (n = 4), or bilateral OT (n = 2). Eight of 8 patients with follow-up ultrasound imaging after torsion showed at least 1 marker of normal ovarian function. One of 11 patients (9%) had a recurrence of OT of an oophoropexied ovary. There were no complications due to the OP portion of the procedure. CONCLUSION: In our series of OT, a small percentage of patients underwent prophylactic OP. Recurrence might still occur after OP. It seems reasonable to offer OP to patients at higher risk of recurrent OT although level 1 evidence is lacking. Future research should focus on techniques and long-term outcomes of OP.