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Background Genital tract malignancies have a significant contribution to morbidity and mortality, particularly in resource-poor countries, including Sri Lanka. The distribution of such tumours varies from region to region. Methodology This was a retrospective, observational study at the Teaching Hospital, Batticaloa for five and a half years, from January 2012 to June 2017, and aimed at analyzing the pattern of gynaecological malignancies. All the histologically confirmed gynaecological cancers arising from the uterine cervix, endometrium, ovary, vagina, and vulva were included in the analysis. Results There were 508 cervical specimens to study histopathology of the cervix, 1,884 gynaecological specimens to study the endometrial histopathology, 537 ovarian specimens, and 92 vaginal and vulval specimen were sent for their histopathological study during the same period. About 143 genital tract malignancies had been diagnosed. There were 52 cervical malignancies (36.36%) and 52 ovarian malignancies (36.36%). The second commonest (20.28%) was endometrial malignancy. Vaginal malignancy was at fourth place (4.9%). Vulval malignancy was 2.1%. The peak age distribution of malignancies (55.24%) was mainly in the 40-59 years age range. The incidence of cervical and ovarian malignancies peaked at 40-59 years, with 32/52 (61.54 %) and 26/52 (50%) of the diagnosed cases, respectively. Conclusion Cervical cancer and ovarian cancer accounted for almost 72.73% of the entire gynaecological malignancies in this study, and both of them have the same peak incidence in the 40-59 age group. This study also showed that 43.36% of total female genital tract tumours are Human Papilloma Virus-associated cancers. They are not only preventable by certain strategies but also identifiable and manageable at the precancerous stage.
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BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome which needs early accurate diagnosis and appropriate treatment to prevent complications and early mortality. Recently, it was reported that mutations in STXBP2 gene are linked to FHL type 5 (FHL-5). CASE PRESENTATION: We report a Sri Lankan neonate who presented with low Apgar scores at birth, abdominal distension, and hepatosplenomegaly, followed by lethargy, poor sucking and rapid decompensation with wide spread activation of inflammation within 48 h of birth. Her elder sibling also had a similar presentation during early neonatal period and deceased at two weeks of age with no diagnosis. Unfortunately, the index case deceased at 14 days of age following multi-organ dysfunction and severe metabolic acidosis. Targeted gene panel followed by reflex exome sequencing revealed a novel likely pathogenic homozygous variant in the STXBP2 gene (NM_001272034.1:c.1141-2A > G) which confirmed the diagnosis of autosomal recessive FHL-5. CONCLUSION: Early diagnosis of FHL type 5 using genetic analysis and timely treatment are difficult in the absence of family history due to a wide spectrum of clinical manifestations. However both early diagnosis and treatment doesn't alter the long term prognosis. So genetic counselling would be the better option.