A case of Sturge-Weber syndrome in association with phacomatosis pigmentovascularis and developmental glaucoma.

Sturge-Weber syndrome is a rare neurocutaneous disorder characterized by a facial nevus flammeus and extensive angiomatous changes involving the leptomeninges, the dura, and vessels of the gray and white matter. Oculodermal melanocytosis is characterized by hyperpigmentation of the facial skin in the distribution of the ophthalmic, maxillary, and occasionally mandibular division of the trigeminal nerve.     

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations

Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of 54 patients. Among these are 22 individuals with point mutations or in‐frame deletions in the DNA‐binding domain (DBD), and 32 individuals with other types of variants including whole‐gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. We corroborate previously described clinical characteristics including developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. We also confirm a vision phenotype that includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment. Additionally, we expand the vision phenotype to include alacrima and manifest latent nystagmus (fusional maldevelopment), and we broaden the behavioral phenotypic spectrum to include a love of music, an unusually good long‐term memory, sleep difficulties, a high pain tolerance, and touch sensitivity. Furthermore, we provide additional evidence for genotype–phenotype correlations, specifically supporting a more severe phenotype associated with DBD variants.     

A case of colouterine fistula managed laparoscopically

Fistulas between the uterus and bowel are rarely reported. We report successful laparoscopic management of a colouterine fistula caused by a foreign body in the uterus. Fistulas between the gastrointestinal tract and the female genital tract are usually found between the vagina and rectum as a result of complications of childbirth or iatrogenic trauma. Communication between the uterus and bowel is rarely reported. We report successful laparoscopic management of an unusual case of colouterine fistula caused by a foreign body in the uterus.     

Laparoscopic management of a large recurrent benign mucinous cystadenoma of the ovary

Introduction Benign mucinous cystadenomas account for 15% of all ovarian neoplasms and up to 80% of all mucinous tumors. Laparoscopy has become an accepted method of management for ovarian cysts and its role is expanding as large benign adnexal masses more than 10 cm can be managed safely and effectively. Case report We report a 25-year-old nulliparous lady with a huge benign mucinous cystadenoma managed by laparoscopic cystectomy, followed by an early recurrence within 2 months. Left salpingo-oophorectomy was performed on a repeat laparoscopy due to suspicion of malignancy on ultrasound. Pathology revealed a benign cyst. Conclusion Since mucinous tumors are usually benign and multilocular, management of young patients is challenging, especially in the case of recurrence which is very rare.     

Genital tuberculosis: an important cause of Asherman’s syndrome in India

Objective To demonstrate the association between genital endometrial tuberculosis and Asherman's syndrome. Materials and methods A total of 28 women who underwent hysteroscopy with or without laparoscopy for suspected Asherman’s syndrome from symptoms (amenorrhoea or oligomenorrhoea, and or primary or secondary infertility) and who were found to have genital tuberculosis on endometrial biopsy (histopathology or culture) or positive polymerase chain reaction (PCR) on endometrial aspirate or positive findings of tuberculosis on laparoscopy or hysteroscopy were enrolled in this retrospective study. Results The mean age and parity were 26.5 years and 0.3, respectively. There was past history of TB in 67.8% women. All women had menstrual dysfunction, with oligomenorrhoea and hypomenorrhoea in 16 (57%) women and amenorrhoea in 12 (42.8%). All women had primary (n = 19, 67.8%) or secondary (n = 9, 32%) infertility. On hysteroscopy, there were various grades of adhesions in all women, with grade I in 17.8%, grade II in 28.5%, grade III in 28.5% and grade IV in 17.5% women. Only four women (14.3%) had open ostia, while others had bilateral (28.5%) or unilateral (21.3%) blocked ostia or inability to see ostia (28.5%). On laparoscopy performed on 18 women, there were varying grades of adhesions in 16 (88.8%) women, with beading (33.3%), tubercles (33.3%), caseation (11.1%) and tubo-ovarian masses (11.1%). The diagnosis of genital TB was made by histopathology (tuberculous granuloma) on endometrial biopsy in 28.6%, positive culture in 3.6%, positive polymerase chain reaction (PCR) in 46.4% and observation of tubercles, beading or caseation on laparoscopy in 17.8% or shaggy cavity with caseation on hysteroscopy in 3.6% women. Conclusion Genital tuberculosis appears to be an important and common cause of Asherman's syndrome in India, causing oligomenorrhoea or amenorrhoea with infertility.     

Fetal cardiac rhabdomyoma with maternal tuberous sclerosis complicating pregnancy

INTRODUCTION: Tuberous sclerosis is an autosomal dominant disorder of hamartoma formation that can manifest as cardiac or central nervous system lesions and adversely affect maternal and fetal outcome. CASE REPORT: We report a case of maternal tuberous sclerosis with fetal cardiac rhabdomyoma detected in utero at 26 weeks gestation. CONCLUSION: To conclude, a pregnancy complicated by maternal or fetal tuberous sclerosis deserves careful vigilance and the fetus should undergo prenatal fetal Doppler echocardiography and if possible an MRI, so that parents can be counseled regarding its future prognostic implications.     

Non-cirrhotic portal hypertension and pregnancy outcome

OBJECTIVE: Non-cirrhotic portal hypertension (NCPH) is a common cause of portal hypertension in developing countries, especially Asia. Recent data have shown near-normal reproductive function and good pregnancy outcome for NCPH compared with cirrhosis. The aim of the present study was to evaluate complications during pregnancy and pregnancy outcome in women with NCPH. METHODS: Twelve pregnancies in five patients with NCPH were evaluated. RESULTS: In the present study, 20% of patients had hematemesis during pregnancy that was managed successfully. Four patients (80%) had severe anemia (hemoglobin 6-7 g%) and three (60%) had thrombocytopenia. There were no preterm births. Of a total of nine live births, six were vaginal deliveries and three were delivered by Cesarean section (performed for obstetric indications). Four babies (44%) were small for gestational age (SGA). CONCLUSIONS: The results show that patients with NCPH have normal fertility, no apparent increase in the incidence of hematemesis during pregnancy, an increased incidence of SGA babies and no indication for elective Cesarean delivery.     

Mixed epithelial and stromal tumor of the kidney in a puerperal woman

Puerperal pyrexia is still rampant, especially in third world countries, and is usually due to puerperal sepsis, urinary tract infections, upper respiratory infection, and breast infection. Rarely, in third world countries like India, it may be due to tuberculosis, malaria, typhoid, and so on, which are also rampant in the general population. Mixed epithelial and stromal tumor of the kidney (MESTK) is a recently recognized subset of renal tumors composed mainly of smooth muscle cells in which epithelial structures are embedded. It usually occurs in middle aged and older women. In the present case report, a 36-year-old woman presented with puerperal pyrexia, possibly due to tuberculosis and with an incidental mixed epithelial and stromal tumor of the kidney causing complex ascitis and fever, which required nephrectomy that was followed by full recovery. This case report highlights the importance of keeping MESTK in mind even in younger women with asymptomatic renal mass. It also highlights the importance of keeping renal tumors in mind as a possibility and to perform proper investigations for adequate treatment and recovery.