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Interesting Case of the Month - (IGHP, ICOM) - May

may 2024

Clinical History-

25-year-old femalepresented with complaints of abdominal fullness, itching, static weight 33 kgs for 2-3 years, intermittent fever. She also had history of sickle cell anemia since the age of 2-3 years, underwent splenectomy for same. History of abdominal koch’s received ATT for 1 year.

USG Examination: Coarse hepatomegaly 23.2 cm. Enlarged necrotic pre and paraaortic lymph nodes.

LFT: Total Bill 0.63 / 0.12 mg/ dl SGOT 46IU/ l SGPT 25IU/ L SAP: 502IU/ L, Albumin -3.59, TLC 16600, INR-1.012

From the images below identify the likely disease?

Microscopic Images-

Histology showing large ovoid histiocytes within the sinusoids noted mainly in perivenular region. These cells have abundant fibrillary cytoplasm resembling wrinkled tissue paper appearance.

Special Stains-

MT stain showed presence of pericellular fibrosis. The vacuolated cells are PAS positive and Diastase resistant..

Diagnosis-

Glycogen Storage Disease
Tyrosinemia
Gaucher’s Disease
Niemann Pick Disease