- MeSH
- Anencephaly diagnosis epidemiology etiology MeSH
- Dandy-Walker Syndrome diagnostic imaging etiology pathology MeSH
- Humans MeSH
- Nervous System Malformations * diagnostic imaging epidemiology etiology classification MeSH
- Brain * abnormalities MeSH
- Infant, Newborn MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
- MeSH
- Agenesis of Corpus Callosum diagnostic imaging pathology MeSH
- Holoprosencephaly diagnosis etiology therapy MeSH
- Humans MeSH
- Nervous System Malformations * diagnostic imaging classification pathology MeSH
- Infant, Newborn MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
- MeSH
- Humans MeSH
- Nervous System Malformations * diagnostic imaging pathology therapy MeSH
- Brain Neoplasms * diagnostic imaging therapy congenital MeSH
- Infant, Newborn MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
- MeSH
- Cerebrovascular Disorders * diagnostic imaging classification therapy congenital MeSH
- Diagnosis, Differential MeSH
- Humans MeSH
- Nervous System Malformations diagnostic imaging classification pathology therapy MeSH
- Infant, Newborn MeSH
- Prognosis MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
- MeSH
- Child MeSH
- Humans MeSH
- Nervous System Malformations * diagnostic imaging classification pathology MeSH
- Musculoskeletal Abnormalities diagnostic imaging classification pathology MeSH
- Labyrinth Diseases classification MeSH
- Congenital Abnormalities diagnostic imaging classification pathology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Review MeSH
OBJECTIVE: Despite profound neurological symptomatology there are only few MRI studies focused on the brain abnormalities in alpha-mannosidosis (AM). Our aim was to characterize brain MRI findings in a large cohort of AM patients along with clinical manifestations. METHODS: Twenty-two brain MRIs acquired in 13 untreated AM patients (8 M/5F; median age 17 years) were independently assessed by three experienced readers and compared to 16 controls. RESULTS: Focal and/or diffuse hyperintense signals in the cerebral white matter were present in most (85%) patients. Cerebellar atrophy was common (62%), present from the age of 5 years. Progression was observed in two out of 6 patients with follow-up scans. Cortical atrophy (62%) and corpus callosum thinning (23%) were already present in a 13-month-old child. The presence of low T2 signal intensity in basal ganglia and thalami was excluded by the normalized signal intensity profiling. The enlargement of perivascular spaces in white matter (38%), widening of perioptic CSF spaces (62%), and enlargement of cisterna magna (85%) were also observed. Diploic space thickening (100%), mucosal thickening (69%) and sinus hypoplasia (54%) were the most frequent non-CNS abnormalities. CONCLUSION: White matter changes and cerebellar atrophy are proposed to be the characteristic brain MRI features of AM. The previously reported decreased T2 signal intensity in basal ganglia and thalami was not detected in this quantitative study. Rather, this relative MR appearance seems to be related to the diffuse high T2 signal in the adjacent white matter and not the gray matter iron deposition that has been hypothesized.
- MeSH
- alpha-Mannosidosis diagnosis diagnostic imaging pathology MeSH
- Atrophy diagnosis diagnostic imaging pathology MeSH
- White Matter diagnostic imaging pathology MeSH
- Child MeSH
- Adult MeSH
- Infant MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Nervous System Malformations diagnosis diagnostic imaging pathology MeSH
- Adolescent MeSH
- Young Adult MeSH
- Cerebellum diagnostic imaging pathology MeSH
- Brain diagnostic imaging pathology MeSH
- Neuroimaging methods MeSH
- Child, Preschool MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
Interim Guidelines The Czech Society for Ultrasound in Obstetrics and Gynecology CZMA JEP issued this opinion in connection with statements of the World Health Organization (WHO) and other international authorities about concerns regarding Zika virus infection. Concerns were expressed from the context of Zika virus infection with fetal microcephaly, which can be diagnosed on pregnancy ultrasound. At present exists uncertainty regarding both diagnostics and connection between Zika virus infection and impairment of the fetus. This opinion does not replace the recommendations and statements issued by state authorities such as the Ministry of Health and others, but solely deals with the possibility of prenatal diagnosis of fetal microcephaly and consultations of the pregnant women.
- MeSH
- Zika Virus Infection * diagnosis complications congenital MeSH
- Pregnancy Complications, Infectious * MeSH
- Humans MeSH
- Nervous System Malformations diagnostic imaging etiology MeSH
- Microcephaly * diagnostic imaging diagnosis etiology MeSH
- Fetus abnormalities MeSH
- Polymerase Chain Reaction MeSH
- Pregnancy MeSH
- Ultrasonography, Prenatal MeSH
- Check Tag
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Practice Guideline MeSH
