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Late presentation of leucoencephalopathy with calcifications and cysts: report of two cases
  1. C Marelli1,
  2. M Savoiardo2,
  3. N Fini3,
  4. I Bartolomei3,
  5. A F Marliani4,
  6. F De Gonda5,
  7. C Agostinis6,
  8. L Albini-Riccioli4,
  9. G Marucci7,
  10. G Giaccone8,
  11. L Chiapparini2,
  12. F Salvi3,
  13. D Pareyson1
  1. 1
    Division of Biochemistry and Genetics, IRCCS Foundation, “C Besta” Neurological Institute, Milan, Italy
  2. 2
    Division of Neuroradiology, IRCCS Foundation, “C Besta” Neurological Institute, Milan, Italy
  3. 3
    “Centro per lo studio e la cura delle Malattie Neurologiche Rare e Neuroimmuni”, Department of Neurosciences, Bellaria Hospital, University of Bologna, Bologna, Italy
  4. 4
    Division of Neuroradiology, Department of Neurosciences, Bellaria Hospital, University of Bologna, Bologna, Italy
  5. 5
    Division of Neurosurgery, Ospedali Riuniti, Bergamo, Italy
  6. 6
    Division of Neuroradiology, Ospedali Riuniti, Bergamo, Italy
  7. 7
    Division of Anatomic Pathology, Bellaria Hospital, University of Bologna, Bologna, Italy
  8. 8
    Division of Neuropathology, IRCCS Foundation, “C Besta” Neurological Institute, Milan, Italy
  1. Dr D Pareyson, Division of Biochemistry and Genetics, IRCCS Foundation, “C Besta” Neurological Institute, Via Celoria 11, 20133 Milan, Italy; dpareys{at}istituto-besta.it

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Leucoencephalopathy with intracranial calcifications and cysts (LCC) is a rare disorder of unknown origin characterised radiologically by white matter abnormalities, calcifications and cysts with contrast enhancing nodules.14 Neuropathology reveals “angiomatous-like” rearrangements of microvessels and Rosenthal fibres (RF).13 The onset is almost invariably in early infancy to adolescence. Occurrence of disease in siblings suggests autosomal recessive inheritance.2 3 Neurological manifestations include cognitive decline, seizures, obstructive hydrocephalus, and progressive cerebellar, extrapyramidal and pyramidal signs. As some patients have visual disturbances and retinal vascular abnormalities resembling Coats’ disease,2 LCC has been linked to Coats plus syndrome, a rare disease characterised by retinal vascular abnormalities, leucoencephalopathy and calcifications without brain cysts.2 5 Systemic involvement is common with haematological, enteric, dermatological or skeletal abnormalities.2 5 We describe two sporadic patients with late onset LCC.

Case reports

Patient No 1

A 27-year-old woman, born to healthy non-consanguineous parents, presented with 5 month progression of symptoms of intracranial hypertension. Brain MRI showed the following: a large left thalamic cyst compressing the aqueduct and the third ventricle with triventricular hydrocephalus; another cerebellar cyst with a rim of post contrast enhancement; supratentorial and left cerebellar white matter hyperintensities on T2 weighted images; and post contrast enhancing nodules in the basal ganglia, thalami and centra semiovalia, densely calcified at CT (fig 1). Spinal …

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