Publicaties
Global and Regional Changes in Cortical Development Assessed by MRI in Fetuses with Isolated Nonsevere Ventriculomegaly Correlate with Neonatal Neurobehavior KU Leuven
Current Controversies in Prenatal Diagnosis 1: Should MRI be performed on all fetuses with mild ventriculomegaly? KU Leuven
Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study KU Leuven
The role of magnetic resonance imaging in the diagnostic work-up of fetal ventriculomegaly KU Leuven
Etiology and Prognosis of Severe Ventriculomegaly Diagnosed atLate Gestation KU Leuven
Isolated sulfite oxidase deficiency Vrije Universiteit Brussel KU Leuven
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 47 patients (45 previously reported in the literature). Cases were reviewed for consanguinity, sex, age at onset, death, ...
Chudley-McCullough syndrome Universiteit Antwerpen Vrije Universiteit Brussel
Expanding the clinical spectrum of Fowler syndrome Universiteit Antwerpen KU Leuven
TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor Vrije Universiteit Brussel
Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy classically characterized by early onset of severe neurologic injury with basal ganglia calcifications, white matter abnormalities, and progressive cerebral atrophy, along with lymphocytosis and raised interferon alpha (INFα) in the cerebrospinal fluid (CSF). Here, we report a 31/2 year-old patient born with prenatal onset AGS, first manifesting as intra-uterine growth ...