Biology Assignment 代写:Unusual Cases Of Massive Splenomegaly

Biology Assignment 代写:Unusual Cases Of Massive Splenomegaly

Lysosomal storage disorders are a group of diseases which occur due to accumulation of glucosylceramide/glucocerebroside and some related compounds within the lysosomes. Gaucher disease (GD) is the most common amongst the various disorders under this group. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The prevalence of GD is approximately 1/75,000 births worldwide, but the disease is more prevalent in individuals of Ashkenazi Jewish descent in whom the incidence is 1/1000 births. [1] There is a paucity of reported cases in the literature with reference to the Indian subcontinent possibly due to the rarity of this disease in this part of the world.

Here we present a young female who presented to our outpatient department with breathlessness, massive splenomegaly and congenital ear abnormalities. Further evaluation revealed anaemia, thrombocytopenia, and bone marrow infiltration with Gaucher cells and deficient enzyme activity. She was initiated on enzyme replacement therapy, and is awaiting response to it.

Case report

25 yr old lady with no known previous medical comorbidities presented to our OPD services with complaints of easy fatiguability, early satiety, dragging sensation and lump like feeling in the left upper abdomen. The symptoms were of about 1 yr duration with insidious onset and progressive course. A history of bleeding from the gums during brushing of teeth was present. There was no history of any other mucocutaneous bleed or petechial/ purpuric rashes. Examination revealed tachypnoea, tachycardia, normal blood pressure, raised JVP, bilateral pitting pedal edema, pallor, bleeding gums, sterna tenderness, microtia right ear, preauricular tags and sinuses in the left ear appendage. Abdomen was distended with a liver span of 20 cms and a massive splenomegaly measuring upto 19 cms below the left subcostal margin. There was a systolic flow murmur in the pulmonic area. Further evaluation revealed revealed anaemia, thrombocytopenia and raised LDH levels (Table 01). Sonological evidence revealed a hepatomegaly (20cms) with splenomegaly (29.5 cms). Bone marrow studies revealed sheets of histiocytes which stained positive with PAS (Fig 01). X Ray Skull revealed osteopenia (Fig 02), X ray pelvis revealed benign osteolytic lesion in the proximal left femur (Fig 03), X ray knee AP view showed the typical Ehrlenmeyer flask deformity (Fig 04).

Enzyme analysis done on peripheral leucocytes revealed deficiency of the enzyme β-glucosidase with values < 0.37 nmol/hr/mg (normal values > 4 mol/hr/mg).

Biology Assignment 代写:Unusual Cases Of Massive Splenomegaly

She was started on management of complications and enzyme replacement therapy and is awaiting response.