Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder. Perinatal and early infantile onset NPC are the most severe types of the disease. Early infantile type is characterized by a rapidly progressive neurodegenerative course, which entails significant morbidity and usually results in death within 5 years. Miglustat, an iminosugar that selectively inhibits the glycosylceramide synthase enzyme, is known to stabilize or delay neurological progression in individuals with NPC, but its impact on affected infants is yet to be elucidated. We present two siblings with early infantile NPC due to the previously reported devastating homozygous mutation c.2279_2281delTCT in NPC1 . Their considerably discrepant neurological disease courses were dependent on the timing of initiation of miglustat treatment. The outcomes support the significant role of early treatment with miglustat in the disease course of early infantile NPC and suggest that therapy should be considered even before the occurrence of neurological involvement. Moreover, this report emphasizes the importance of early diagnosis, in light of the availability of a potential disease-modifying medication.

No abstract

INTRODUCTION: To compare the mode of delivery of nulliparous women with vaginismus at term to those without vaginismus. METHODS: This was a retrospective case-control study. Nulliparous women ≥37 weeks presenting in labor with a diagnosis of vaginismus, defined as chronic recurring difficulty for a woman to allow vaginal penetration, were included. The control group consisted of the next two nulliparous women delivering at term. Delivery data were compared between the groups. RESULTS: 26 women with vaginismus were compared to 52 controls. Demographics were similar between the groups. The cesarean delivery rate was significantly higher in the vaginismus group (38% vs. 13%, p=0.019). Maternal request was the major contributing factor (19% vs. 0%, p=0.002). Four women in the vaginismus group required perineal suturing using IV sedation or general anesthesia compared to none in the control group. CONCLUSION: Nulliparous women with vaginismus have a significantly higher cesarean delivery rate. Maternal request is a major contributing factor rather than standard obstetrical indications. Perineal repair following vaginal delivery often requires iv sedation in the operating room.