Course of the illness and treatment
Chediak Higashi syndrome was considered in view of overlapping symptoms
of oculocutaneous albinism and neutropenia, hence Vitamin C was given
and there was gradual catch up in gross motor milestones, with normal
speech and mentation. TSH was raised and hence started on daily thyroid
replacement therapy in view of primary hypothyroidism.
He continued to remain neutropenic and had multiple episodes of upper
respiratory tract infections.
At 4 years of age he presented with fever and respiratory distress. ANC
was 151cells/μL and X-ray showed bilateral diffuse non homogenous
opacities suggestive of miliary tuberculosis as seen in Figure B.
Patient was started on anti-tubercular treatment - pyrazinamide,
rifampicin and isoniazid, which was continued for 2 years and compliance
was good.
At follow up diagnosis was revised to be Hermansky-Pudlak syndrome due
characteristic skin and hair hypopigmentation with ocular findings and
neutropenia with absence of characteristic cytoplasmic granules in
neutrophils on peripheral smear along with bleeding diathesis.
At 8 years of age patient presented with multiple firm submandibular,
upper deep cervical and submental lymph nodes. FNAC of the cervical
lymph nodes showed granulomatous lymphadenitis suggestive of
TB—started on anti-tubercular treatment - pyrazinamide, ethambutol,
isoniazid and rifampicin. After few months there was increase in size of
the swellings, as Hermansky-Pudlak Type 2 is a high-risk condition for
lymphoma a LN biopsy was done which showed caseating granulomatous
lymphadenitis. Ciprofloxacin was added along with ATT.
ATT given for 18 months, and lymph nodes regressed.
At 10 years of age patient was admitted with Dengue fever, serology was
positive for NS1 Dengue. He had hepatosplenomegaly and petechiae over
lower limbs and hands, treated with supportive measures. ANC at this
time was 70 cells/ μL.
At 12 years the patient was admitted with adenotonsillitis with
membranous patch over left tonsil. Lateral X ray neck showed adenoid
hypertrophy. Patient underwent adenotonsillectomy with bilateral grommet
insertion.