Abstract Details

Title Familial Pure Form of Leukoencephalopathy with Cerebral Calcifications and Cysts (LCC)

Topic Child Neurology/Developmental Neurobiology

Presentation(s) P02 - (-)

Poster/Presentation
Number 093

Objective

Background BACKGROUND: LCC is a very rare neurologic disorder of unknown etiology. The diagnostic triad of LCC consists of progressive cerebral and cerebellar calcifications, diffusely abnormal T2 signal in white matter on MRI, and space-occupying cystic lesions. Recently, CTC1 mutations are reported in Coats Plus syndrome, that has some clinical overlap with LCC, but CTC1 mutations have not been reported in LCC patients without extra-neurologic manifestation.

Design/Methods DESIGN/METHODS: We present the first report of familial LCC.

Results RESULTS: Patient 1 is a 29 year-old female with a history of medically refractory epilepsy. Seizures began at 3 months. She had cognitive decline and increased frequency of seizures as an adolescent. Brain MRI at 16 years showed multiple intraparenchymal cystic lesions, calcifications, and diffusely increased T2 signal in the subcortical white matter. She developed acute-onset of left-sided homonymous hemianopsia with hemiparesis at age 29. MRI showed interval progression of intraparenchymal cysts and calcifications. She responded well to shunt placement. Her ophthalmologic examination was normal, without retinal telangiectasias or exudates. Patient 2 is the 26-year-old sister of Patient 1, who was asymptomatic until the 25 years, when she developed acute-onset of left-sided hemiparesis. Brain MRI showed multiple intraparenchymal cystic lesions, calcifications, and diffusely increased T2 signal in the subcortical white matter. One of the cysts was removed, and she responded well. Her ophthalmologic evaluation was also normal without retinopathy.

Conclusions CONCLUSIONS: Ectodermal abnormalities, intrauterine growth retardation, or retinal telangiectasias or exudates found in Coats Plus syndrome were NOT present in these 2 patients. These 2 cases suggest that in this family LCC is an autosomal recessive disorder and that LCC may be a distinct clinical/molecular entity from Coats Plus syndrome.

Authors/Disclosures
Bethanie N. Morgan, MD (Kentucky Office of Children with Special Healthcare Needs (OCSHCN)) PRESENTER	Dr. Morgan has nothing to disclose.
	No disclosure on file
Jacquelyne Kane, MD (Evicore healthcare)	No disclosure on file
	No disclosure on file
Yasushi Kisanuki, MD, FAAN (The Ohio State University/Dept. Neurology)	Dr. Kisanuki has nothing to disclose.
Bernhard Hemmer, MD (Technische Universität München)	No disclosure on file

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