Dr.Syed Faraaz Hussain, H15908
A 2 month old female infant brought paediatric department for suspected thalassaemia with eczema. The child was diagnosed with pancreatic insufficiency with pancytopenia, especially falling platelets. Patient was referred to ophthalmology to rule out retinal haemorrhages.
On ocular examination both eyes anterior segment was WNL. Pupils and Retinoscopy were WNL. Fundus in BE showed optic disc pallor, attenuation of blood vessels, diffuse pigment atrophy appearance and no associated haemorrhags. Macula was apparently normal with a dull foveal reflex.
Systemic findings indicate a form of inherited Bone Marrow failure syndromes (BMFS), possibly Shwahzman- Diamond Syndrome (SDS) in view of the associated pancreatic dysfunction. Although rare, association of BMFS with pigmentary changes in retina has been reported, but not with SDS. Hence we report this finding which highlights the importance of further diligent workup of such patients.
Leave a Comment