Chediak Higashi syndrome is characterised by the following except –
**Core Concept**
Chediak-Higashi syndrome (CHS) is a rare genetic disorder characterized by a defect in the LYST gene, leading to impaired lysosome formation and function. This results in an accumulation of granules within cells, particularly in immune cells, which affects various bodily functions, including immune response and melanin production.
**Why the Correct Answer is Right**
The correct answer is related to the clinical manifestations of CHS. The hallmark features of CHS include:
- Impaired immune function, leading to recurrent infections
- Abnormal melanin production, causing oculocutaneous albinism
- Bleeding tendency due to platelet dysfunction
- Aplastic anemia in some cases
**Why Each Wrong Option is Incorrect**
* **Option A:** Osteosclerosis is not a characteristic feature of Chediak-Higashi syndrome.
* **Option B:** Hemophagocytic lymphohistiocytosis (HLH) is a feature of CHS, but it's not the only option given. Assuming it's not the correct answer, let's evaluate the other options.
* **Option C:** Aplastic anemia is indeed a feature of CHS in some cases.
* **Option D:** Since option C is a correct feature, option D should be the correct answer if we assume that option A is incorrect.
**Clinical Pearl / High-Yield Fact**
One important aspect of CHS is that it often presents with a triad of symptoms: albinism, bleeding tendency, and recurrent infections. This combination can help in diagnosing CHS.
**Correct Answer:** D.