IntroductionÂ
Hermansky-Pudlak syndrome (HPS) is hereditary multi-system disorder
characterized by oculocutaneous albinism, a bleeding diathesis, platelet
storage deficiency. Individuals can also present with pulmonary
fibrosis, granulomatous colitis, and/or immunodeficiency. Ocular
findings include nystagmus, reduced iris pigment, reduced retinal
pigment, foveal hypoplasia with significant reduction in visual acuity
(usually in the range of 20/50 to 20/400), and strabismus. Hair colour
ranges from white to brown; skin colour ranges from white to olive and
is usually at least a shade lighter than that of other family
members.(3) The storage-pool defect arises from the absence of platelet
dense bodies which normally contain adenosine diphosphate (ADP),
adenosine triphosphate (ATP), calcium and serotonin which are necessary
to trigger the secondary aggregation response of platelets(4)
The accumulation of ceroid lipofuscin, an amorphous lipid-protein
complex, is associated with the mentioned findings of pulmonary
fibrosis(5)(6), and granulomatous colitis(7) which can result in
increased morbidity in these individuals. HPS is more prevalent in
Puerto Rico, where HPS type 1 has an estimated prevalence of 1:1800(1)
and most clinical research studies have been conducted there. Worldwide
HPS is rare inherited autosomal recessive disorder, with an estimated
prevalence of only 1:500,000 to 1:1,000,000 in non- Puerto Rican
populations(2), thus making it’s presentation in a South-Asian country
such an India extremely rare. In this case report, we discuss a patient
with Hermansky Pudlak Type II who was followed over a decade. This case
is unique because the patient developed disseminated tuberculosis twice
during the course of follow up despite compliance to treatment, implying
a possible T cell defect and hence merits publication.