Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy

Renee Ribacoba¹ , Manuel Menendez-Gonzalez¹ , Ines Hernando² , Javier Salas³ and Maria Luisa Giros⁴

¹Unit of Neurology, Hospital Alvarez Buylla, Mieres, Spain

²Department of Molecular Genetics, Hospital Universitario Central de Asturias, Spain

³Department of Neurology, Hospital Universitario Central de Asturias, Oviedo, Spain

⁴Institut of Clinic Biochemistry, Corporació Sanitària Clínic, Barcelona, Spain

author email corresponding author email

International Archives of Medicine 2008, 1:5doi:10.1186/1755-7682-1-5


Published:	29 April 2008

Abstract

The partial trisomy 13q.22 is an uncommon chromosomopathy. We present a case with a partial trisomic component 13q22 and a monosomic component 5p15 from paternal origin. This patient developed early menopause and major neurological disorders as leukoencephalopathy, late onset generalised epilepsy and stroke. She also had fatty acids disturbances and their potential relation to the neurological disorders and early menopause is discussed. The presented case illustrates the phenotype of 13q22-qter in adult age and reaffirms the importance of studying the karyotype of any patient with seizures or leukoencephalopathy particularly when there are associated other clinical features including stroke at a young age, fatty acids disturbances, microcephaly, hypotelorism, short neck, hemangiomata, short fingers or distal swell in thumbs.