Naslov
Vanishing White Matter Disease - report on first case in Croatia

Autori
Mejaški-Bošnjak, Vlatka ; Grmoja, Tonči ; Scheper, Gert C ; van der Knaap, Marjo S ; Đaković, Ivana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
ESMRN 2011, 11th International Congress European Society of Magnetic Resonance in Neuropediatrics, Amsterdam, The Netherlands, March 24-26, 2011, Program & Abstracts / - , 2011, 129-129

Skup
11th International Congress European Society of Magnetic Resonance in Neuropediatrics

Mjesto i datum
Amsterdam, Nizozemska, 24.03.2011. - 26.03.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
vanishing white matter disease; neuroimaging; gene

Sažetak
Background: Vanishing White Matter Disease (VWMD) is one of the most prevalent inherited white matter disorders in childhood, with a large variety in the age of onset and rate of progression. Classical and most common type shows its onset between the ages of 2 and 6 years in children with initially normal motor and mental development. The disease is characterized by progressive neurological deterioration accompanied by cerebellar ataxia, spasticity and mild mental decline. Loss of vision and epilepsy also may occur. Head growth is normal. The course of disease is chronic progressive with additional episodes of rapid deterioration following minor head trauma and febrile infections. Clinical assessment and magnetic resonance imaging (MRI) of the brain enable diagnosis. MR shows progressive rarefaction and cystic degeneration of the cerebral white matter. So far VWMD was not diagnosed in any child in Croatia inspite of increasing use of MRI in neurological disorders in children. Aim: We present the first case of a patient diagnosed as typical form of VWMD in Croatia, along with his clinical assessment and MRI findings. Methods and results: The patient, a boy, at the age of 2, 5 years was referred for acute left hemiparesis after mild head trauma which recovered within few days. Brain MRI was performed, showing on FLAIR images and T2-wighted images hyperintensive signal abnormalities of all cerebral white matter, with the exception of corpus callosum and internal capsule. There were signal abnormalities in the central tegmental tracts and cerebellar white matter. The FLAIR images showed that the cerebral white matter was partially rarefied with many dots and stripes of better preserved tissue strands. The sagittal T1-weighted images confirmed the stripe-like pattern of preserved tissue strands, also showing hypointensity in all cerebral white mater. Genetic analysis confirmed him as a compound heterozygous for the two mutations in a gene EIF2B5 ; c.338G>A/ p.Arg113His and c.1015C>T/ p.Arg339Trp. At present, at the age of five, the clinical status of the boy has deteriorated with increasing ataxia and spasticity which caused wheel dependence. Conclusion: In diagnostic of VWMD, along with clinical features and course, MRI is essential diagnostic tool whereby definitive diagnosis is obtained by genetic analysis that also enables prenatal counseling.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA