Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus

John H Livingston, Josephine Mayer, Emma Jenkinson, Paul Kasher, Stavros Stivaros, Andrea Berger, Duccio M Cordelli, Patrick Ferreira, Rosalind Jefferson, Georg Kutschke, Staffan Lundberg, Katrin Ounap, Prab Prabhakar, Calvin Soh, Helen Stewart, Jon Stone, Marjo S van der Knaap, Hilda van Esch, Christine van Mol, Emma WakelingAndrea Whitney, Gillian I Rice, Yanick J Crow

Research output: Contribution to journalArticlepeer-review

Abstract

OBJECTIVE: With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity.

PATIENTS AND METHODS: A total of 15 patients with LCC were identified from our database of patients with intracranial calcification. The clinical and radiological features are described.

RESULTS: The median age (range) at presentation was 10 months (range, 2 days-54 years). Of the 15 patients, 9 presented with epileptic seizures, 5 with motor abnormalities, and 1 with developmental delay. Motor abnormalities developed in 14 patients and cognitive problems in 13 patients. Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in a pericystic distribution. Diffuse leukoencephalopathy was present in all patients, and it was usually symmetrical involving periventricular, deep, and sometimes subcortical, regions. Cysts developed in the basal ganglia, thalamus, deep white matter, cerebellum, or brain stem. In unaffected areas, normal myelination was present. No patient demonstrated cerebral atrophy.

CONCLUSION: LCC shares the neuroradiological features of CP. However, LCC is a purely neurological disorder distinguished genetically by the absence of mutations in CTC1. The molecular cause(s) of LCC has (have) not yet been determined.

Original languageEnglish
Pages (from-to)175-82
Number of pages8
JournalNeuropediatrics
Volume45
Issue number3
DOIs
Publication statusPublished - Jun 2014

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