Leukoencephalopathy, cerebral calcifications, and cysts: entity that can mimic a neoplasm

Abstract

Leukoencephalopathy with intracranial calcifications and cysts (LCC) is a rare and recently described entity characterized radiologically by white matter abnormalities, calcifications, cysts and enhancing nodules 1 . LCC is a disorder of unknown etiology and its neurological manifestations include cognitive decline, seizure, obstructive hydrocephalus, progressive cerebellar, besides extrapyramidal and pyramidal signs with juvenile onset 2 . We report a case of LCC with remarkable radiological and clinical features. CASEA 30-year-old man presenting frontooccipital headache for the last 7 days, worsening in the morning, associated with progressive anorexia and vomiting.Eight years ago, he had an acute neurological event characterized by paresis and aphasia of expression.His past medical history demonstrated moderate cognitive impairment since childhood.Family history, were unremarkable and no consanguinity was known. Neurological examination revealed left paresis grade 4+ with positive Babinski sign besides ataxia. Brain MRI (1.5T) revealed an expansive solid / cystic interhemispheric lesion measuring 55×25 mm with important mass effect. T2 imaging showed remarkable hemossiderin deposition in its walls. MR perfusion demonstrated high capilar density within the walls. Multiple enhancing nodular lesions were observed envolving supra and infratentorial brain parenchyma. Some of these nodules had hemorrhagic component on T2 images. Broad and symmetric calcifications in periventricular white matter, basal ganglia, brainstem and dentate nuclei were observed.Patient underwent surgery for relieving intracranial hypertension and biopsy. Pathological examination was inconclusive due to the large amount of clotted blood within the material. No neoplastic cells were observed. Patient was discharged in good clinical condition, without signs of intracranial hypertension, remaining hemiparesis and aphasia.

Leukoencephalopathy with calcifications and cysts

“…On contrast MRI, the lesions appear as ring-like enhancement along the cyst wall or nodular enhancement in the degenerated white matter, indicating that LCC is associated with angiogenesis. [10,11] The leukoaraiosis and formation of calcifications suggest the presence of tissue degeneration and necrosis. [11,12] The spectrum analysis conducted by Sener et al [5] found the main component of cystic fluid was lactate, indicating the formation of cysts may be associated with tissue ischemia and hypoxia.…”

“…[10,11] The leukoaraiosis and formation of calcifications suggest the presence of tissue degeneration and necrosis. [11,12] The spectrum analysis conducted by Sener et al [5] found the main component of cystic fluid was lactate, indicating the formation of cysts may be associated with tissue ischemia and hypoxia. In addition, bleeding deposits could be found in the cysts in a few cases, also suggesting the formation of cyst is related to hemorrhage.…”

Leukoencephalopathy, cerebral calcifications and cysts: a family study

“…The full-blown syndrome affects infants or adolescents [5][6][7]; it is milder in adults [7]. Less than 30 LCC cases have been reported [5][6][7][8][9][10][11][12][13][14][15][16]. -Révész syndrome, a fatal variant of dyskeratosis congenita with exudative retinopathy, bone marrow disease, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia, and cerebral calcifications [17][18][19], is caused by the mutation of TINF2, a component of the shelterin telomere protection complex [2].…”

“…Rarely, enhancing intraparenchymal nodular lesions are present constituting pre-cystic changes [14]. Gliosis and vasogenic oedema may surround the nodules and cysts [5,14].…”

“…MR perfusion studies reveal high capillary densities within the walls of the cysts by ring enhancement; T2-weighted sequences demonstrate hemosiderin depositions and disruption of blood-brain barrier [5,14]. The radiologic signs may mimic neoplasm; excluded by histological studies confirming the cerebral angiomatous-like rearrangements of the microvessels [7].…”