Elif Bulut1, Abdulsamet Erden2, Omer Karadag2, Kader Karli Oguz3, Seza Ozen4. 1. Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: drelifbulut@yahoo.com. 2. Department of Internal Medicine, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 3. Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 4. Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Abstract
PURPOSE: To increase the knowledge of central nervous system (CNS) imaging features in deficiency of adenosine deaminase 2 (DADA2) by examining magnetic resonance imaging (MRI) studies of a relatively large number of patients. METHODS: We retrospectively examined neuroimages of 12 patients (7 male, 5 female) diagnosed with DADA2. The mean age of the patients at the time of initial brain MRI was 16.7±10.2 years. Seven patients (58.3%) fulfilled the classification criteria of polyarteritis nodosa. Brain MRI studies were assessed with respect to findings of ischemia, intracranial hemorrhages, focal parenchymal signal abnormalities, cerebral/cerebellar volume loss, and abnormal contrast enhancement. Angiographic studies of 7 patients were evaluated for the signs of vasculitis. RESULTS: The most frequent finding was acute and/or chronic lacunar ischemic lesions in the brainstem and/or deep gray matter (n=9, 75%). Six patients (50%) revealed MRI findings compatible with recurrent ischemic attacks. Small nodular contrast enhancement (n=2, 16.6%), acute putaminal hemorrhage (n=1, 8.3%) and findings compatible with posterior reversible encephalopathy syndrome (n=1, 8.3%) were also detected. Slight-to-moderate diffuse cerebral and/or cerebellar volume loss (n=7, 58.3%), decreased T1 signal of the bone marrow (n=6, 50%) and optic atrophy (n=1, 8.3%) were the other findings on brain MRI. The only abnormal angiographic finding was reduced caliber of the right distal posterior cerebral artery in MRA of a patient (14.6%). CONCLUSION: DADA2 should be included in the differential diagnosis of young patients presenting with ischemic and/or hemorrhagic lesions located in the brainstem and deep gray matter, especially if they have a family history or additional systemic abnormalities.
PURPOSE: To increase the knowledge of central nervous system (CNS) imaging features in deficiency of adenosine deaminase 2 (DADA2) by examining magnetic resonance imaging (MRI) studies of a relatively large number of patients. METHODS: We retrospectively examined neuroimages of 12 patients (7 male, 5 female) diagnosed with DADA2. The mean age of the patients at the time of initial brain MRI was 16.7±10.2 years. Seven patients (58.3%) fulfilled the classification criteria of polyarteritis nodosa. Brain MRI studies were assessed with respect to findings of ischemia, intracranial hemorrhages, focal parenchymal signal abnormalities, cerebral/cerebellar volume loss, and abnormal contrast enhancement. Angiographic studies of 7 patients were evaluated for the signs of vasculitis. RESULTS: The most frequent finding was acute and/or chronic lacunar ischemic lesions in the brainstem and/or deep gray matter (n=9, 75%). Six patients (50%) revealed MRI findings compatible with recurrent ischemic attacks. Small nodular contrast enhancement (n=2, 16.6%), acute putaminal hemorrhage (n=1, 8.3%) and findings compatible with posterior reversible encephalopathy syndrome (n=1, 8.3%) were also detected. Slight-to-moderate diffuse cerebral and/or cerebellar volume loss (n=7, 58.3%), decreased T1 signal of the bone marrow (n=6, 50%) and optic atrophy (n=1, 8.3%) were the other findings on brain MRI. The only abnormal angiographic finding was reduced caliber of the right distal posterior cerebral artery in MRA of a patient (14.6%). CONCLUSION: DADA2 should be included in the differential diagnosis of young patients presenting with ischemic and/or hemorrhagic lesions located in the brainstem and deep gray matter, especially if they have a family history or additional systemic abnormalities.
Authors: A F Geraldo; R Caorsi; D Tortora; C Gandolfo; R Ammendola; M Alessio; G Conti; A Insalaco; S Pastore; S Martino; I Ceccherini; S Signa; M Gattorno; A Rossi; M Severino Journal: AJNR Am J Neuroradiol Date: 2021-02-25 Impact factor: 3.825
Authors: Maria I Zervou; George N Goulielmos; Michail Matalliotakis; Charoula Matalliotaki; Demetrios A Spandidos; Elias Eliopoulos Journal: Mol Med Rep Date: 2019-12-05 Impact factor: 2.952