Robert’s uterus: a rare mullerian anomaly mystery unfolded

Anomalies of female genital tract may not be detected until after menarche when they present a cyclical pain due to outlet obstruction. Mullerian anomalies represent a vast array of structural abnormalities resulting from improper development and fusion of embryological mullerian ducts. 19-year-old girl attained menarche at the age of 14, had progressive dysmenorrhoea and diagnosed as right haemotosalphinx and ovarian endometrioma which were removed in 2008. As pain progressed, she underwent laparoscopic adhesiolysis in 2013. Since, pain persisted, diagnosed as right haematometra, and drainage done by laparotomy. Left adnexa were normal. She was given depot provera till she completed schooling. She developed recurrent dysmenorrhoea after stopping depot provera. USG and MRI revealed recurrent haematometra on right side with normal left horn. The possibility of atypical septum was thought about and hystero laparoscopy was done. It showed right side haemetometra with absent right adnexa. Left adnexa normal. Hysteroscopy showed normal left horn with septum with a bulge towards the left side. Hence, proceeded with hysteroscopic septostomy and haemetometra was drained to the left horn. Later patient was free from dysmenorrhea and repeat hysteroscopy was found to be normal. This case highlighting mullerian anomalies have to be considered when young girls present with severe progressive dysmenorrhoea and diagnosis remains a challenge most of the clinicians. This rare entity has to be kept in mind while evaluating such patients. Prompt diagnosis and early surgical correction are essential to avoid future morbidity in the form of repeated unnecessary surgeries.

An interesting case of Phocomelia

Authors present a very rare case of tetra-phocomelia evaluated by antenatal ultrasonography. It is a condition seen in 0.62 per 100,000 live births. This is a congenital chromosomal abnormality involving the musculoskeletal system. Primi gravida with spontaneous conception after a long period of infertility underwent early anomaly scan. Patient was not aware of the last menstrual period hence; NT scan was missed. Routine early anomaly scan done between 16-18 weeks of pregnancy diagnosed a fetus with Tetra-Phocomelia. Due to the lack of associated symptoms or significant history, our case did not fit into any specific syndrome and appears to be the result of a sporadic, non-hereditary limb deficiency involving all four limb buds.  Second opinion obtained from a fetal medicine consultant who confirmed the diagnosis. Hence, decided for mid trimester termination and fetus was expelled after 8 hours. Fetus was not sent for pathological analysis. Tetra-phocomelia is a rare congenital anomaly and it may be associated with other deformity also. 1st case of phocomelia was described after the intake of thalidomide. In this condition hands and feet are seen as small flippers of a seal. The differential diagnosis includes sporadic phocomelia, Holt-Oram syndrome, thrombocytopenia-absent radius syndrome (TAR syndrome), Robert’s syndrome, and thalidomide-induced phocomelia. Here authors are presenting a rare case of Phocomelia where there is no history of drug intake or family history. This has to differentiate from thrombocytopenia-absent radius syndrome (TAR syndrome), sporadic phocomelia, Holt-Oram syndrome, Robert’s syndrome, and thalidomide-induced phocomelia.

Umbilical endometriosis along with peritoneal endometriosis: a case report

Incidence of endometriosis is around 10 to 15% in women of reproductive age group. Umbilical endometriosis is a very rare entity. Extra genital endometriosis accounts to 3% of endometriosis. Incidence of umbilical endometriosis is 0.5%-4% of extra genital endometriosis. 30 years old multi gravida was referred to our hospital with c/o periodic bleeding from the umbilicus for the past 3 months. She was also having dysmenorrhoea for about 3 months. On examination, patient had a small bluish nodule in the umbilicus around 1.5x1.2 cm in size. Clinically there was suspicion of pelvic endometriosis as the uterus was retroverted and fixed. CT abdomen showed a small hypo-echoeic area in the umbilicus and uterus was adenomyotic with normal ovaries. Patient was given the option of laparoscopy and excision of umbilicus, as there was suspicion of peritoneal endometriosis and the patient also insisted upon laparoscopic sterilization. Laparoscopy showed early peritoneal endometriosis with pelvic adhesions and the same adhesiolysis was done along with cauterization of endometriosis. Sterilization was also done as per the patient’s request. Umbilical excision and layer closure was done. Umbilical endometriosis is a rare entity. This patient had associated early pelvic endometriosis. Umbilical endometriosis could be secondary to the lympho vascular spread from the pelvic endometriosis or primary umbilical endometriosis. History, clinical and imaging were pointing towards umbilical endometriosis. Surgical excision of umbilical endometriosis and cauterisation of early pelvic endometriosis were done. Patient needs follow up. Umbilical endometriosis may be primary or secondary which needs total excision and follow up.