AUTOSOMAL RECESSIVE FORM OF PERIVENTRICULAR NODULAR HETEROTOPIA IN THREE BROTHERS WITH WEST SYNDROME
Abstract number :
1.198
Submission category :
Year :
2003
Submission ID :
4089
Source :
www.aesnet.org
Presentation date :
12/6/2003 12:00:00 AM
Published date :
Dec 1, 2003, 06:00 AM
Authors :
Marcelo M. Rodrigues, Luis Otavio S.F. Cabloco, Eliana Garzon, Henrique C. Junior, Fabio R. Torres, Iara L. Brandao Almeida, Iscia Lopes-Cendes, Luis Celso P. Vilanova, Elza Marcia T. Yacubian, Americo C. Sakamoto Unity of Epilepsy Treatment and Research,
Periventricular heterotopia (PH) is characterized by the presence of neuronal nodules along the lateral ventricle walls. Familial PH is usually associated with prenatal lethality in males and mutations, specially in the first seven coding exons, of the X-linked gene filamin A ([italic]FLNA[/italic]). Recently, patients with PH associated with chromosome 5p15.1 duplication and 5p15.33 trisomy were reported; as well as, an autosomal recessive form of PH in four unrelated families.
To describe clinical and genetic characteristics of three male siblings with West syndrome secondary to PH.
Members of the family had video-EEG recordings, MRI and genetic studies performed.Genomic DNA was obtained by direct extraction from lymphocytes of fresh blood using standard manual technique. Polymerase chain reactions (PCRs) were carried out using the published primer sequences for the first seven exons of the [italic]FLNA[/italic] gene. PCR products were analyzed by single strand conformation polymorphism (SSCP)
This consanguineous family has three affected male siblings, two monozygotic twins (9 months old) and a 4 years old boy. Onset of flexor spasms, typical of West syndrome, was around 4 months of age in all of them. MRI revealed bilateral periventricular nodules of cerebral gray matter intensity typical of PH in the three children; whereas, both parents had normal MRIs. Preliminary SSCP analysis in the first seven exons of the [italic]FLNA[/italic] gene did not show any abnormalities.
This is the first description of West syndrome in boys with PH. In addition, it is very likely that PH is segregating as an autosomal recessive trait in this family, making less likely the presence of [italic]FLNA[/italic] gene mutations.
[Supported by: CAPES and FAPESP]