Abstract Details

Title White matter lesions detected by MRI in neonates and children with Congenital Myotonic Dystrophy

Topic Child Neurology and Developmental Neurology

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 7-068

Objective Evaluate brain MRI findings in a larger cohort of children including neonates with CDM1 to assess the nature of CNS involvement and progression of MRI lesions over time.

Background Congenital myotonic dystrophy (CDM1) is an autosomal dominant genetic disorder due to abnormal cytosine-thymine-guanine (CTG) trinucleotide repeat expansion that results in weakness and cognitive deficits. Studies detailing MRI brain findings in neonates and children with this condition are limited.

Design/Methods

The Cincinnati Children’s Hospital neuromuscular database was used to identify 16 CDM1 patients with genetically proven CDM1 diagnosis who had brain MR imaging. Hospital charts were reviewed to collect clinical information.

Results 94% of patients had an abnormal MRI showing injury to the white matter. Nine patients underwent imaging prior to 8 days of life; 8 of these patients showed signs of injury to the white matter. Three neonates had follow up MRI scans and all showed progression of injury. Seven patients had the first MRI between 29 days and 22 years of age and all had signal abnormalities within the white matter. There were two patients with additional congenital brain malformation and one patient who also harbored a mutation in CDKL5 with resultant epilepsy.

Conclusions White matter abnormalities are found in patients with CDM1, even in the neonatal period. Many patients present with hypoxia and receive a diagnosis of hypoxic ischemic encephalopathy and even undergo therapeutic hypothermia. If MRI findings of white matter injury do not correlate with clinical evidence of hypotonia and weakness, further evaluation for CDM1 should be considered.

Authors/Disclosures
Lindsay Peglar, MD (St. Louis Children's Hospital) PRESENTER	No disclosure on file
	No disclosure on file
Cuixia Tian, MD (Cincinnati Childrens Hospital Medical Center)	Dr. Tian has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Tian has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Tian has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Itf. Dr. Tian has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Regenxbio. Dr. Tian has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Solid Bioscience. The institution of Dr. Tian has received research support from MDA. The institution of Dr. Tian has received research support from NIH.
Charulata N. Venkatesan, MD, PhD (Cincinnati Children'S Hospital Medical Center)	Dr. Venkatesan has nothing to disclose.

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