Adrenocortical tumors in children: Sri Lankan experience from a single center, and a mini review.

BACKGROUND: Pediatric adrenocortical tumors include both benign adenomas and highly virulent malignant tumors. However, they are very rare among children. The aim of this study is to evaluate the clinicopathological data of children presenting with adrenocortical tumors and assess their survival in a South Asian population. CASE PRESENTATION: This is a retrospective cohort study that includes patients diagnosed with adrenocortical tumors from August 2020 to August 2022 followed-up at Lady Ridgeway Hospital. Seven children were diagnosed with adrenal cortical tumors. Their ages ranged from 10 months to 6.5 years. Five of them were boys. All displayed signs of peripheral precocious puberty. One boy phenotypically had features of Beckwith-Wiedemann syndrome. The median time for diagnosis after the onset of symptoms was 4.4 months. The preoperative diagnosis was based on clinical manifestations, elevated dehydroepiandrosterone sulfate levels, and suprarenal masses on computed tomography. All five boys had right-sided suprarenal masses, while the two girls had them on the left side. All underwent surgery for tumor resection. The diagnosis was confirmed based on the histopathology of the adrenal specimens. Four children had a Wieneke score of 4 or more, suggesting the possibility of adrenocortical carcinoma; however, only two of them behaved as malignant tumors. To date, two children have developed local recurrences within a very short period. CONCLUSION: Adrenocortical tumors are uncommon in children, and treatment options are limited. To identify early recurrences, routine clinical, radiological, and biochemical examinations at least once every 6-8 weeks is important.

Dirofilarial nodule as a differential diagnosis for subcutaneous lumps in children.

PURPOSE: Subcutaneous nodules in children are commonly caused by pilomatrixoma, dermoid cysts, soft tissue tumors, etc. Parasitic infections are reported to cause subcutaneous nodules and are infrequently described, mostly in the adult literature. We aim to describe the clinicopathological features of subcutaneous lumps caused by dirofilarial infestation in children in an endemic country. METHODS: A retrospective analysis was performed of all patients presenting with the above condition to Lady Ridgeway Hospital from 2018 to 2022 and their relevant details were captured in a proforma. RESULTS: There were 55 patients with a male to female ratio of 2:1. The mean age at presentation was 50 months (7-156 months). The mean duration was 97 days (1-820 days). The common sites involved were scrotum (30.9%), back (14.5%), abdominal wall (102.7%) and face (10.9%). The majority had a painless nodule (70.9%), while ten (18.2%) had features of acute inflammation. Thirty (55.5%) had preoperative ultrasonography which showed features of parasitic nodules in 26 (47.3%). Parasite was demonstrated in histopathological analysis only in 30 patients (54.5%). CONCLUSION: Dirofilarial nodule should be considered in the differential diagnosis of subcutaneous lumps in children, especially in the endemic areas.

A report of haploidentical allogeneic haematopoietic stem cell transplantation for inherited bone marrow failure in Sri Lanka.

Abstract: Bone marrow failure (BMF) in children can be idiopathic (70-80%) or inherited. Haematopoietic stem cell transplantation (HSCT) is the only cure for both causes. Allogeneic HSCT requires a suitable donor. Many children will not have a HLA matched sibling or unrelated donor. A haploidentical donor is available for all children as eaazch parent will have at minimum a 50% HLA match. This report of a 7-year old girl with BMF treated with a haplo-HSCT, the first in Sri Lanka, highlights the importance of developing a haploidentical HSCT programme as a potential cure for a disease with a dismal outcome.

Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia.

INTRODUCTION: Girls with classical congenital adrenal hyperplasia (CAH) are exposed to excess fetal adrenal androgens in-utero, and often born with masculinised genitalia. They are conventionally reared as females, but show more "boyish" gender-role behaviour (GRB) and gender-identity (GI) issues in childhood and adolescence. Male-rearing is also reported mainly due to delayed treatment and/or socio-cultural factors. We compared GRB/GI in girls with CAH with healthy age matched children, and explored for associations with socio-demographic and diagnosis/treatment related factors. METHODS: GRB and GI were assessed using the Gender Identity Questionnaire for children (GIQC) in 27 girls with classical CAH at a specialised clinic, and compared with 50 age-matched healthy controls, with exploratory-analysis based on socio-demographic and diagnosis/treatment-related factors. RESULTS: Girls with CAH had lower total GIQC scores compared to healthy children (3.29 vs. 4.04, p = < 0.001) with lower GRB score (3.39 vs. 4.23, p < 0.001), and tendency for lower GI score (3.19 vs. 3.5, p = 0.08). Exploratory analysis showed no differences based on diagnosis/treatment factors including age, degree of virilisation at diagnosis and surgical procedures. and only subtle changes based on ethnicity and maternal education. DISCUSSION/CONCLUSION: Girls with CAH managed at a specialised centre showed more masculinised GRB and tendency for ambiguous GI, which did not vary upon diagnosis/treatment related factors, suggesting that prenatal androgen exposure was the likely contributor. Clinicians should be vigilant about the increased risk of gender-related problems in girls with CAH, irrespective of sociocultural background and despite early treatment.

Acute appendicitis complicated by mass formation occurring simultaneously with serologically proven dengue fever: a case report.

INTRODUCTION: Acute abdomen and acute appendicitis are unusual clinical presentations that occur in dengue infection-caused illness. Lymphoid hyperplasia and mesenteric adenitis are possible explanations, although vasculitis in the pathology of dengue infection has not been reported. Authors of previous case reports have described mimicking of acute appendicitis discovered upon surgical treatment. Dengue virus has not been proven to cause acute appendicitis. CASE PRESENTATION: We report a case of an 8-year-old Sinhalese boy who developed acute appendicitis during the acute phase of serologically confirmed dengue fever. Although abdominal pain, vomiting and right-sided tenderness were present at the time of admission, a diagnosis of acute appendicitis was considered only 18 hours later, when abdominal guarding and a well-defined mass in the right iliac fossa were detected clinically and ultrasonographically. Conservative management with intravenous antibiotics was successful. CONCLUSION: In areas where dengue is endemic, awareness of dengue viral infection as a non-surgical cause of acute abdomen, as well as its ability to mimic acute appendicitis, is important because unnecessary surgery-related morbidity can be decreased. However, delaying or missing the diagnosis of acute appendicitis can result in serious complications. This message is particularly relevant to clinicians, especially pediatricians and surgeons, who encounter large numbers of patients during dengue epidemics and run the risk of missing the diagnosis of acute appendicitis. Likewise, delaying or missing the diagnosis of dengue hemorrhagic fever can lead to dengue shock syndrome and even death. This case highlights the need for careful evaluation of each patient who presents with acute abdomen and dengue infection.