Adrenal neuroblastoma (ANB) originates from neural crest cells in the adrenal medulla and is rare in adults, with fewer than 10% of cases occurring after age 14 and with a prevalence of about 0.12 per million. Clinical presentations are nonspecific, often including abdominal pain or mass, leading to delayed diagnosis. Imaging typically shows a heterogeneous adrenal mass. Due to its rarity, adult cases are treated using paediatric protocols. ANB is highly aggressive and carries a poor prognosis in adults. This report describes a 17-year-old male with a large ANB, successfully treated with radical surgical resection and chemotherapy, followed by an uneventful recovery.
Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by hypoxanthine-guanine phosphoribosyl transferase deficiency, resulting in hyperuricaemia, neurological dysfunction, and self-mutilation. We report a 3-year-10-month-old Sri Lankan boy who initially presented in infancy with irritability, excessive crying, and sleep disturbance, which were overlooked. He later developed developmental delay, dystonia, and self-injurious behaviour. Investigations revealed hyperuricaemia, hyperuricosuria, cerebral atrophy, absent red cell HPRT enzyme activity, and a pathogenic HPRT1 variant (c.402+1G>A). Treatment included allopurinol and dietary modification, but xanthine stones developed due to overtreatment. Early uric acid testing for prompt LNS diagnosis and allopurinol monitoring to prevent xanthine nephrolithiasis are essential.
Congenital right subclavian artery stenosis is extremely rare, particularly when associated with dextrocardia and situs inversus. We describe a 17-year-old boy who presented with a history of three-months of exertional right-hand discomfort and numbness. Examination revealed weak right upper limb pulses and an interarm blood pressure difference of 35 mmHg. Imaging confirmed dextrocardia with situs inversus and isolated proximal right subclavian artery stenosis from a mirror-image aortic arch. This case highlights the importance of considering congenital vascular anomalies in young patients with limb claudication and mirror-image anatomy for timely diagnosis and targeted management.
Background: Early childhood developmental screening plays a critical role in preventive health care. Sri Lanka has a formal national programme for developmental surveillance using the Child Health Development Record (CHDR), conducted by Primary Health Care (PHC) workers. This audit evaluated the compliance of developmental screening documentation with the national guideline (General Circular 01-12-2020).Methods: A retrospective clinical audit was conducted on 100 CHDRs from the Western Province, representing children from birth to 10 years. Completeness of developmental milestone documentation by mothers and PHC workers (Public Health Midwives/Medical Officers of Health) at ten scheduled ages (2-60 months) was assessed against the national standard. Referral documentation for identified developmental concerns was also evaluated.Results: Overall completeness of developmental milestone documentation was suboptimal, being 67.6% by mothers and 51.8% by PHC workers, with large geographical variation. A marked decline in completeness was shown with increasing age of children from 82.0% at 2 months to 30.0% by age 5 years. Nearly half (45%) of PHC worker records showed less than 50% completeness. Importantly, out of the four children having developmental problems, referral was documented for only two (50%), indicating breakdown of the referral pathway in half of the at-risk cases.Conclusion: This audit demonstrates a major implementation gap in the developmental screening programme in Sri Lanka, characterised by declining surveillance beyond infancy, and high degree of incomplete documentation, resulting in missed referrals. It indicates an urgent need for focused quality improvement of PHC worker training, improved supervisory services and systemic reforms to ensure detection and intervention for children with developmental delay.
Rhino-orbital-cerebral & pulmonary mucormycosis (ROCPM) affects immunocompromised hosts, and mimics granulomatosis with polyangiitis (GPA). A diabetic female presented with facial pain, headache, fever, and diplopia with left CN VI palsy. Progression to CN II & surgical CN III palsy despite antibiotics, rising creatinine and inflammatory markers and pulmonary cavity prompted a diagnosis of GPA and immunosuppression initiated. Histology revealed mucormycosis (ANCAs, ANA: negative), and anti-fungal substituted. Later, re-admitted with low GCS and hemiplegia with infarction due to angio-invasive fungal spread and succumbed. Access to rapid confirmatory tests is critical to prevent misdiagnosis and improve survival in ROCPM.
