Oculocutaneous albinism Photophobia Squint UMN features Microcephaly Recurrent bruising Hepatosplenomegaly Left hemothorax and fracture rib following fall from bed INR: Normal Platelets: 4 lacs TLC: 20000 NO fever Differential diagnosis (Other than Battered baby syndrome)


Large inclusion bodies in leucocytes in peripheral smear is a cost effective test in diagnosing CHS.. bone marrow examination also shows large inclusions in wbcs and their precursor cells.. even light microscopy of hair shows clumped melanin granules

Both are possible with Oculocuteneous Albinism, blood smear & platelets electron microscopy can differentiate the two. Refraction and Photochromics specs or specs with dark black "B2" glasses may provide comfort & vision.

Fracture left 7th rib laterally with massive haemothorax and mediastinum shifted to right.

Hermasky pudlak syndrome

Albinism , photophobia , bleeding diathesis.. all go in favour of hermansky pudlak syndrome... Chediak higashi syndrome is a dd.. but they usually have recurrent pyogenic infections , large intracellular inclusions in neutrophils and they usually die by 10 yrs of age..

Neurological manifestations and organomegaly are more favourable towards CHS

Features are those of Chediak-Higashi syndrome

How to prove diagnosis cost effectively??

I agree with Dr V Reddy


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