Abstract Details

Title Leukodystrophic Changes in Oculodentaldigital Dysplasia

Topic Neurotoxicology

Presentation(s) P06 - (-)

Poster/Presentation
Number 207

Objective

Background BACKGROUND: ODDD is a rare autosomal dominant inherited disorder characterized by microophthalmia, nasal deformity, abnormal dentition and syndactyly of the 4th and 5th fingers. It is associated with various neurological manifestations such as spasticity, gaze palsy, epilepsy and blindness.

Design/Methods DESIGN/METHODS: Case report and literature review.

Results RESULTS: A 21 year old right handed female with history of ODDD presented to the emergency room with transient left sided hemiplegia. She had 3 episodes of bilateral facial paresthesias, dysphasia, dysphagia and left sided hemiplegia lasting for 30 minutes without alteration of awareness. These episodes occurred in a day without recurrence of symptoms. She has a strong family history, of which father and 2 other paternal relatives are affected with ODDD. Physical exam revealed stable vital signs, microcephaly, microophthalmia, flat zygomatic arch, deficient ala nasi, oligodontia of upper and lower jaw with numerous dental caries, surgical scars of upper extremities for correction of syndactyly and cutaneous syndactyly between 3rd and 4th toes bilaterally, consistent with ODDD. Neurological exam was unremarkable. She had 2 normal EEGs. CSF analysis was normal. MRI brain revealed posterior white matter, internal capsule and splenium of corpus callosum T2 non-enhancing abnormalities. Genetic testing showed GJA-1 mutation, confirming ODDD. Typical brain MRI findings of ODDD have been reported to include abnormal white matter changes involving posterior regions, basal ganglia, thalamus and brainstem. The frontal regions are less likely affected.

Conclusions CONCLUSIONS: ODDD is a poorly recognized genetic condition among neurologists that can present with various neurological manifestations. ODDD should be considered as a differential diagnosis in patients with leukodystrophic changes in the brain MRI with typical clinical characteristics.

Authors/Disclosures
Shi Y. Lim, MD (Kaiser Fremont Medical Center) PRESENTER	No disclosure on file
Anupama Kale, MD (DENT Neurologic Institute)	No disclosure on file
Manjamalai Sivaraman, MD	Dr. Sivaraman has nothing to disclose.
Pradeep C. Bollu, MD	Dr. Bollu has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Abbvie.
Juanzhi Fang (EMD Serono)	No disclosure on file
Anantha Vellipuram, MD	Dr. Vellipuram has nothing to disclose.

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