Uncomon Cause Stroke: Thalamic Stroke As Initial Presentation Of Dunnigan Familial Partial Lipodystrophy (FPLD) (P6.264)

We report a laminopathy case with no history of MS suffering strokeREPORT/CASEA Woman of 40 years old came to the stroke unit because of tingling in her right arm with acute onset. She suffers miscarriage twice. Her familial history reports a pseudocushingoid facies in a sister, a brother, some paternal uncles and her small daughter. She had no history of hypertension or diabetes.Neurological and general examination found pseudocushingoid facies, faciotroncular obesity, hirsutism, muscular hyperthrophy on upper body but amyotrophy of the lower part, proeminentes venous, a little adiposus tissue, acanthosis migrans on the neck and axillary region. We suspect partial familial lipodystrophy.MRI showed hypersignal on Diffusion with restriction on ADC. CT angiography electrocardiogram and transoesophageal echocardiogram was normal. Body CT shows a left adrenal mass of 84X72 mm. Blood tests were unremarkable (no diabetes), but there was abnormalities for a adrenal carcinoma The patient was sent to surgeon with a pathological disgnosis of adrenal carcicoma Weiss 7/9 and TNM: pT3N0. We found no cardiovascular factor. Molecular biology confirm Dunnigan syndrome with mutation R482Q, heterozygosus mutation of the lamine A/C gene.DISCUSSIONTo date, there’s no report of laminopathy presented as stroke. Patient usually had hypertriglyceridemia which can cause acute pancreatitis, hyperinsulinemia with insulinoresistance and cardiovascular risk. Netherveless, there’s no link in t...
Source: Neurology - Category: Neurology Authors: Tags: Cerebrovascular Disease and Interventional Neurology: Case Reports Source Type: research