Leukoencephalopathy, cerebral calcifications, and cysts

Abstract

We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.

Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

“…CADASIL is the prototypical example of a hereditary systemic small vessel disease and remains the only one which has been genetically characterized [9]. Other conditions with small vessel pathology include CARASIL [29], HERNS [7], CRV [5,28], HVR [17,23,25], HIHRTL [27] and a recently described syndrome with leukoencephalopathy, cerebral calcifications, and cysts [10,14]. HERNS, CRV and HRV have been linked to chromosome 3p21.1-3p21.3 [17] and may therefore have a common genetic origin.…”

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

“…Coats plus is a rare disorder of which the most characteristic features are retinal telangiectasia and exudates (Coats disease), a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts, osteopenia with a tendency to frac tures and poor bone healing, and a high risk of life limiting gastro intestinal bleeding and portal hypertension caused by the development of vasculature ectasias in the stomach, small intestine and liver [4][5][6][7][8][9] ( Fig. 1).…”

Repeated cyst formation in a patient with leukoencephalopathy, cerebral calcifications, and cysts: effectiveness of stereotactic aspiration with Ommaya reservoir placement

“…6,[9][10][11][12]14,16 Prominent angiomatous changes in the cyst wall and a high concentration of proteins in the cyst cavity may be conducive to cyst expansion. In such cases, a single stereotactic aspiration may be insufficient to resolve the cyst, and the placement of an Ommaya reservoir may allow the patient to avoid additional surgery.…”

“…8-10,12,13,15-17 cerebellum, 4,5,7,[11][12][13][14]16 brainstem, 2,12,15 lat eral ventricles, 1,4 basal ganglia, and thalmus. 4,7,12,13,15 The clinical symptoms of this entity include seizures, cognitive decline, and a combination of pyramidal, extrapyramidal, and cerebellar signs, with symptoms primarily related to the progression of leukoencephalopathy, cerebral calcifications, and cyst formation.…”

“…4,7,12,13,15 The clinical symptoms of this entity include seizures, cognitive decline, and a combination of pyramidal, extrapyramidal, and cerebellar signs, with symptoms primarily related to the progression of leukoencephalopathy, cerebral calcifications, and cyst formation. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] Although there are no effective preventive or medical treatments for LCC, surgery has therapeutic value in patients with clinical symptoms due to cyst expansion. 1,2,4,7,9,11,13,15,16 In the present report, we describe the case of a patient with LCC who underwent surgery for repeated cyst formation.…”