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Our case an eight months old fair skinned female child, first born of non consanguinous marriage presented with bluish pigmentation of face and limbs , capilliary hemangioma on forehead ,multiple mongolian spots over back . Her anterior Fontanelle was not closed and had small eyes with epicanthal folds and low set ears are noted. Mother also noted hyperpigmentated spots. No abnormality was detected on systemic examination.
On routine basis her CBC was sent which showed normal haemogram and peripheral blood smear revealed normocytic normochromic RBCs with no increased polychromasia, Chediak Higashi Granules were seen in neutrophils, eosinophils, lymphocytes and monocytes. No left Shift was noted. Hair Shaft specimen shows regular sized and shaped pigment clumps consistent with Chediak Higashi Syndrome.Fundus examination shows peripheral retinal pigment epithelium atrophy. Her endocrine profile was normal.
The history when elicited revealed that patient was getting multiple upper respiratory infections and was advised repeated nebulisation. The patient had developed a bluish pigmentation in response to nebulisation suggestive of a sensitive skin. Because of her fair looking skin hypopigmentation of skin which was not noticed in this case.