Pb2493: peripheral neuropathy a hidden cause for pain in gaucher disease.a case report and review of literature

Topic: 23. Hematopoiesis, stem cells and microenvironment Background: Pain is one of the disabling symptom in Gaucher disease, many studies investigated its etiology especially in Gaucher disease type 1.Peripheral neuropathy is a well established cause of pain in Fabry disease and sometime sin Pompe disease.Here we present a case of Gaucher disease type 1 with years of chronic pain proved to be due to peripheral neuropathy Aims: To study the relationship between Gaucher disease type 1 and peripheral neuropathy as a cause of pain Methods: Retrospective collection of data of diagnosis of young female patient diagnosed with Gaucher disease type 1 and analysis of the chronic pain the patient is suffering.Hematology, liver and kidney functions, serum vitamin B12, serum folic acid and nerve conduction velocity was done Results: A 29 years old female married patient of first cousin consanguineous parents, neither smoker nor alcoholic diagnosed as GD1 at the age of 22 years. Initial laboratory investigations were complete blood picture (CBC)showing (TLC:4.2*103/ul, Neut:2.09*103/ul, Lymph:1.8*103/ul, Hb:12.6 gm/dl, MCV:82fl, MCH:24.5 pg, plt:45*103/ul).Immunological markers were negative,bone marrow examination revealed infiltration by Gaucher cells.Plasma chitotriosidase was 2390 umol/L/h,beta glucocerberosidase was 0.7 umol/gmpr/h and her genetic analysis for GD revealed homozygous mutation for N409S(N370S).Her pelviabdominal ultrasound showed a liver volume of 1550cc and a spleen volume of 560cc.After 4 years of treatment she started to complain from chronic pain in her extremities especially in her lower limbs sometimes tingling and numbness in nature.By examination her weight is 62kg(50th centile), her height is 155cm(50th centile) with BMI 27kg/m2 with normalization of her abdominal examination.Her neurological examination is normal. Investigations done included CBC showing (TLC:5.1*103/ul, Neut:2.5*103/ul, Lymph:2.1*103/ul, Hb:13.7 gm/dl, MCV:82.7fl, MCH:27 pg, plt:45*136/ul), serum calcium of 9.3 mg/dl, serum magnesium of 1.8 mg/dl, serum phosphorous of 3.7 mg/dl, alkaline phosphatase of 73 u/l, fasting blood glucose of 90 mg/dl, glycated hemoglobin of 4.5 %, serum vitamin b12 of 300pg/ml, serum folic acid level of 5 ng/ml, glucosylsphingosine (lyso GL1) was 68.8 ng/ml.. Nerve conduction velocity of both peroneal and tibial nerves of both lower limbs showed reduced amplitude denoting axonal neuropathy together with delayed peak latency of both sural nerves. Summary/Conclusion: Polyneuropathy should be considered an important differential diagnosis in assessment of pain in GD especially type 1 as it is considered recently to be part of the natural history of GD 1.Pathophysiology and risk factors for developing peripheral neuropathy in GD 1 still needs more studies on large scale of patients. Keywords: Gaucher disease