Niemann Pick Disease (NPD) presenting as cortical venous sinus thrombosis: a rare presentation

Objective: NA Background: Niemann-Pick disease (NPD) is an inherited metabolic disorder characterised by accumulation of lipids in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include muscle incoordination, brain degeneration, learning problems, hypotonia, spasticity, sensory or bulbar symptoms along with hepatosplenomegaly. Inheritance is autosomal recessive. There are four types of NPD. Type A is the most severe form. NPD presenting as cortical venous sinus thrombosis is very rare. Design/Methods: We report a 37 year old male with complaints of fever for 7 days, altered sensorium and gradually progressive left hemiparesis for 4 days. He had hepatomegaly with liver span of 16 cm and splenomegaly of span of 6 cm. CT Head showed intracerebral hemorrhage involving the right thalamus with perilesional edema and intraventricular hemorrhage. MRI Brain showed restricted diffusion on DWI and blooming on SWI involving the right thalamus and bilateral gangliocapsular regions. There was loss of signal voids in right transverse, sigmoid sinuses and internal jugular veins representing hemorrhagic venous infarcts. MR Venogram confirmed the findings of cortical venous sinus thrombosis. USG abdomen showed coarse echotextured nodular liver. On investigation, he had bicytopenia with anemia and leucopenia. He had low MCV index with high RDW index. His Mentzer index was 11.2 which indicated thalassemia minor, however, haemoglobin electrophoresis ruled out beta thalassemia. He was further screened for paroxysomal nocturnal hemoglobinuria and Kala azar. On bone marrow examination, there were foamy macrophages with abnormal cholesterol storage called Niemann Pick cells. They stained negative to PAS stain and positive to lipid stain. The serum acid sphingomyelinase was positive for NPD type B. He was started on oral anticoagulation. His motor power improved to normal. Results: NA Conclusions: Although the mechanism of hypercoagulability in NPD is unknown, it can be presumed that NPD may be a prothrombotic state leading to thromboembolism. Study Supported by: NA Disclosure: Dr. Gupta has nothing to disclose. Dr. Pandian has nothing to disclose.