Browsing by Author "Amarasinghe, B."

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    Charles Bonnet syndrome
    (SAARC Psychiatric Federation, 2015) Dissanayake, D.M.R.M.; Hewarathne, A.; Wijesinghe, C.A.; Amarasinghe, B.; Williams, S.S.
    A 41 year old married labourer presented with complex visual hallucinations for six months. He had reduced visual acuity, a subluxated lens, and two retained sutures from a previous surgery of the right eye and complete blindness of the left eye. His mental, physical and neurological examinations were unremarkable. Surgical correction of his visual impairment resulted in resolution of symptoms.
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    Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience
    (BioMed Central, 2014) Nusliha, A.; Dalpatadu, U.; Amarasinghe, B.; Chandrasinghe, P.C.; Deen, K.I.
    BACKGROUND: Familial Adenomatous Polyposis (FAP) is an autosomal dominant condition giving rise to multiple adenomatous polyps in the colon which invariably become malignant by the fourth decade. Congenital hypertrophy of retinal pigment epithelium (CHRPE) is one of its extra intestinal manifestations early in childhood seen, present in 90% of FAP population and is easy to detect. FINDINGS: Patients diagnosed with FAP and at risk first degree family members were screened for CHRPE using a slit lamp and indirect ophthalmoscopy. The retina of 17 diagnosed FAP patients and 13 individuals at risk were examined. The site and size of CHRPE lesions were documented. Thirteen (76%) of 17 FAP patients (male-10, female - 7, median age - 30 years; range 15-55 years) had CHRPE lesions; seven (54%) had bilateral CHRPE lesions and six (46%) had unilateral lesions. A single lesion was detected in 6 (46%) while 7 (54%) patients had multiple lesions. Of 13 at risk individuals (7- male, female-6 ; median age 34; range 16-52 years), one was positive for CHRPE and 12 were free of retinal lesions. The sensitivity of the presence of a CHRPE lesion in association with colonic polyps in FAP was 76%, specificity 92%, positive predictive value 93%, and negative predictive value 75%. CONCLUSIONS: This study found a high sensitivity and specificity for a CHRPE lesion to be associated with colonic polyps of FAP and hence a useful screening method in a burdened health-care system. The method is minimally invasive and simple and would be of particular value in screening children at risk for FAP
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    Neck stiffness and papilloedema due to Harada syndrome
    (Sri Lanka Medical Association, 2012) Nawasiwatte, B.M.T.P.; Premaratna, R.; Amarasinghe, B.; de Silva, H.J.
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    Uses of a familial adenomatous polyposis registry
    (Sri Lanka Medical Association, 2011) Dalpatadu, K.U.A.; Anwar, N.; Wijesuriya, S.R.E.; Kumarage, S.K.; Amarasinghe, B.; Deen, K.I.
    OBJECTIVES :To improve the prognosis of patients with familial adenomatous polyposis (FAP) by early diagnosis and prophylactic treatment through a coordinated FAP register. DESIGN: The establishment and descriptive analysis of the prospective database of the FAP registry. SETTING: University surgical unit, Colombo North Teaching Hospital Ragama, Sri Lanka. PATIENTS : Probands were identified by tracing all diagnosed FAP patients from 1996 to 2010 and their family members at risk. INTERVENTIONS :The establishment of a polyposis register included the following stages: ascertainment of probands (first contact symptomatic FAP patients), construction of pedigrees, counselling relatives and prophylactic screening of family members at risk, treatment and follow up. RESULTS : Twenty seven enrolled probands (12 male and 15 female, age 11-52 years, median age 34 years) were investigated. Pedigree analyses showed 206 relatives at risk. Twenty four family members at risk were screened of a total of 51 registered individuals. The rate of spontaneous mutations was 41%. Thirty five were diagnosed with FAP. Eight were screen detected (median age – 32 years) and 27 symptomatic (median age – 34 years). Concomitant colorectal cancer was detected in 17 (63%) symptomatic individuals and in 1 (13%) screen detected individual. Colectomy was performed in 27 (77%) patients while 8 (23%) are on chemoprophylaxis. Congenital hypertrophic retinal pigment epithelium was detected in 15. Desmoids tumours (6%) and other extraintestinal manifestations including osteomas, sebacious cysts and dental abnormalities (34%) were also detected. A thyroid gland malignancy was screen detected while retinoblastoma, hepatoblastoma and cerebral tumours were seen in pedigrees. CONCLUSIONS :A polyposis register may improve prognosis of FAP by early detection. It will help coordinate, optimise and streamline clinical management of patients with FAP and their relatives at risk.