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PP12.7 – 2536: A new autosomal recessive syndrome of infolded polymicrogyria associated with a severe movement disorder
- Source :
- European Journal of Paediatric Neurology. 19:S79
- Publication Year :
- 2015
- Publisher :
- Elsevier BV, 2015.
-
Abstract
- Objective To describe an 8 year old girl, with a new autosomal recessive syndrome presenting with severe dystonia and on MRI a unique pattern of infolded polymicrogyria. Methods An 8 year old girl is the product of consanguineous Arab-Moslem parents. Prenatal ultrasound demonstrated bilateral clubfeet. She achieved walking at the age of 5.5 years but has no speech. On examination she demonstrates:generalized dystonia, hypotonia with muscle wasting, clubfeet, and a a pseudobulbar syndrome with no expressive speech but good comprehension. Results MRI shows a unique pattern of bilateral infolded extensive perisylvian polymicrogyria. The findings are more prominent on the right side and do not resemble the classical patterns of polymicrogyria. Conclusion To date there is no description of this unique pattern of imaging of perisylvian polymicrogyria. The inheritance of classical bilateral perislvian polymicrogyria is mostly autosomal dominant and this syndrome is assumed to be autosomal recessive due to parental consanguinity. The severe movement disorder in our case has not been mentioned in other perisylvian syndromes.
- Subjects :
- Dystonia
Pediatrics
medicine.medical_specialty
General Medicine
Audiology
Perisylvian polymicrogyria
medicine.disease
Hypotonia
Prenatal ultrasound
Pseudobulbar Syndrome
Pediatrics, Perinatology and Child Health
Generalized dystonia
medicine
Polymicrogyria
Bilateral clubfeet
Neurology (clinical)
medicine.symptom
Psychology
Subjects
Details
- ISSN :
- 10903798
- Volume :
- 19
- Database :
- OpenAIRE
- Journal :
- European Journal of Paediatric Neurology
- Accession number :
- edsair.doi...........ce18b4ee9ead844294a79130081de9af