Sex cord stromal tumours of the ovary, experience at Shifa International Hospital Islamabad.

This descriptive study was carried out at Pathology Department, Shifa International Hospital from 2007 to 2016; all sex cord stromal tumours diagnosed during this time period were included. Epithelial, germ cell and metastatic tumours were excluded from the study. A total of 1254 Ovarian tumours were brought to Shifa of which47 (4%) were labeled as sex cord stromal tumours. Of these 36( 76 %)were granulosa cell tumour (adult33, juvenile3), 7 were labeled as sertoli leydig cell tumours (15%), 3 as thecoma/ fibroma group (7%)and only one case was labeled as microcystic stromal tumour of the ovary (2%). Overall age range for sex cord stromal tumours was 42 (12-71). Immunohistochemistry was done in 41 out of 47 cases. Sex cord stromal tumours of the ovary are rare tumours comprising 4% of the total. Adult Granulosa cell tumour is the commonest tumour seen in our study.

A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.

Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by dementia and progressive cognitive decline, ultimately culminating in death within 10 years. In Pakistan so far 5 cases have been reported. Here, we report a new case of Lafora body disease belonging to a consanguineous family from Pakistan. Histopathological analysis confirmed presence of lafora bodies in the patient`s skin. Sanger sequencing revealed novel homozygous 5bp deletion mutation (NM_005670.4; c.359_363delGTGTG) in exon 2 of the EPM2A gene, which was truly segregated in the family. These results will increase our understanding regarding the aetiology of this disorder and will further add to the mutation spectrum of EPM2A gene.

Utility of Routine Gall Bladder Histopathology after Living Donor Hepatectomy in Liver Transplantation.

Intraoperative cholangiogram with cholecystectomy is a routinely performed procedure in living donor liver transplantation (LDLT).The objective of this study was to determine the frequency of gall bladder pathology in healthy living donors and whether routine histopathology can be omitted. This was a retrospective review of 366 donors who underwent donor hepatectomy between 2012 and 2016. Primary outcome of interest was frequency of abnormal histopathology findings in removed gall bladder specimen; and if their distribution was different with respect to gender, age and BMI. Male to female ratio was 2.1:1. Median age was 26 (18-50) years. Median BMI was 23.9 (15.7-35) Kg/m2. The most common finding was chronic cholecystitis in 189 (51.6%). Gall bladder pathology was more frequently seen in donors with BMI >25 Kg/m2, i.e. 69.3 % versus 30.7% (p<0.001). Due to high frequency of abnormal findings, gall bladder should be sent routinely for histopathology in healthy liver donors after cholecystectomy.