Abstract
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder
characterised by oculocutaneous albinism, a bleeding diathesis and
platelet storage deficiency.
The aim of this paper is to report a case of a patient with HPS who was
followed over a decade. A 2-and-a-half-year-old boy presented with
recurrent respiratory tract infections and global developmental delay.
On examination, he had light golden hair, grey iris with nystagmus,
fundus hypo-pigmented fovea and white macules all over the body. Also
found to have neutropenia without granules on peripheral smear. HPS can
often be a diagnostic dilemma mimicking disorders like Chediak-Higashi
syndrome, in this case diagnosis was made due to characteristic skin and
hair hypopigmentation and ocular findings along with bleeding diathesis.
Our patient was categorised under the HPS2 subtype which has mild
immunodeficiency.
HPS is usually associated with neutropenia and hence pyogenic
infections, the present case however was associated with an advanced
form of pulmonary Tuberculosis- miliary TB and granulomatous TB
lymphadenitis giving rise to the possibility of a T-cell defect.