Paediatria Croatica, Vol. 58 No. 4, 2014.
Recenzija, Prikaz slučaja
https://doi.org/10.13112/PC.2014.50
MASA syndrome in twin brothers: case report of sixteen-year clinical follow up
Matilda Kovač Šižgorić
; Poliklinika za dječje bolesti Dr. Sabol
Zlatko Sabol
Filip Sabol
Tonći Grmoja
Svjetlana Bela Klancir
Zdravka Gjergja
Ljiljana Kipke Sabol
Sažetak
MASA syndrome (OMIM 303350) is a rare X-linked recessive neurologic disorder, also called CRASH syndrome, spastic paraplegia 1 and
Gareis-Mason syndrome. The acronym MASA describes four major signs: Mental retardation, Aphasia, Shuffl ing gait and Adducted
thumbs. A more suitable name for this syndrome is L1 syndrome because the disorder has been associated with mutations in the
neuronal cell adhesion molecule L1 (L1CAM) gene. The syndrome has severe symptoms in males, while females are carriers because
only one X chromosome is aff ected. The aim of this report is to show similarities and diff erences in clinical manifestations between
twins with the L1CAM gene mutation and to emphasize the importance of genetic counseling. Our patients were dizygotic twins born
prematurely at 35 weeks of gestation. Pregnancy was complicated with early bleeding and gestational diabetes. Immediately after
birth, hypertonia of lower extremities was observed in both twins. Sixteen-year clinical follow up showed spastic paraparetic form with
shuffl ing gait, clumsiness, delayed speech development, lower intellectual functioning at the level of mild to moderate mental retardation,
primary nocturnal enuresis, behavioral and sleep disorder (more pronounced in the second twin). Magnetic resonance imaging
of the brain showed complete agenesis of the corpus callosum, complete lack of the anterior commissure, and internal hydrocephalus.
Electroencephalograms showed nonspecifi c slower dysrhythmic changes. Kidney ultrasound showed mild dilatation in the channel
system of both kidneys in both twins. Ophthalmologic examination was normal. Molecular genetic testing identifi ed homozygous
intron 26 L1CAM gene IVS26-12G→A mutation in both twins. The mother is carrier of the same heterozygous mutations. In conclusion,
our patients, fraternal twins, show similar clinical changes typical of the MASA syndrome. After identifying the specifi c genetic
mutations, this family has become eligible for genetic counseling and informative for prenatal diagnosis.
Ključne riječi
MASA (Mental Retardation, Aphasia, Shuffl ing Gait, Adducted Thumbs) Syndrome; mutation; genes; twins
Hrčak ID:
142341
URI
Datum izdavanja:
23.12.2014.
Posjeta: 2.045 *