Hermansky-Pudlak syndrome.
We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon. In spite of all the classical features of this genetic disorder he was labeled to have disseminated tuberculous infection with a drug resistant strain for many years till the actual diagnosis was made on the basis of a strong clinical suspicion. We report this rare condition which might be misdiagnosed as tuberculosis.
Sen
Tiyas
T
Hinduja National Hospital and Research Centre, Mahim, Mumbai 400 016.
Mullerpattan
Jai
J
Agarwal
Dipika
D
Naphde
Deepak
D
Deshpande
Ramesh
R
Mahashur
Ashok A
AA
D000328:Adult; D003937:Diagnosis, Differential; D022861:Hermanski-Pudlak Syndrome / Q000175:diagnosis*; D006801:Humans; D008297:Male; D014376:Tuberculosis / Q000175:diagnosis