Recently, Desai et al. described six subjects with deletions in the ATAD3 gene cluster (Desai et al. 2017). Most of these patients died within their first week of life and one died after 7 months,... Show moreRecently, Desai et al. described six subjects with deletions in the ATAD3 gene cluster (Desai et al. 2017). Most of these patients died within their first week of life and one died after 7 months, but one was still alive at 30 years of age. Harel et al. (2016) described three patients with biallellic variations in ATAD3A, one of whom died in the second week of life but the other two were alive at 24 and 26 years, respectively. For pre- and postnatal management it is important to understand why some patients die very early, whereas others seem to have a much milder clinical affect. Show less
A primigravid woman with polyhydramnios and preterm contractions presented at 25 weeks pregnancy. Fetal ultrasound revealed periventricular cysts and cerebral hypoplasia. The neonate was born in a... Show moreA primigravid woman with polyhydramnios and preterm contractions presented at 25 weeks pregnancy. Fetal ultrasound revealed periventricular cysts and cerebral hypoplasia. The neonate was born in a poor condition, with increased serum lactate and pyruvate levels. Whole exome sequencing detected FBXL4 gene mutations causing recessive mitochondrial myopathy. Show less
Scheltema, P.N.A. van; Zhang, A.; Ball, L.M.; Steggerda, S.J.; Wijk, R. van; Putte, D.E.F. van de; Kamp, I.L. van 2015
Newborn infants requiring intensive care treatment are at risk of cerebellar injury. This can have important consequences for long-term neurodevelopmental outcome. The aim of this thesis was to... Show moreNewborn infants requiring intensive care treatment are at risk of cerebellar injury. This can have important consequences for long-term neurodevelopmental outcome. The aim of this thesis was to study the incidence and characteristics of cerebellar injury, and to investigate the role of different neuroimaging techniques (cranial ultrasound (CUS) with additional mastoid fontanelle (MF) views and MRI) for its detection in both preterm and high-risk term infants. Part I describes the standard CUS procedure and supplementary imaging techniques to optimize its performance, including the use of additional acoustic windows. Part II focuses on the detection, risk factors and prognostic implications of cerebellar injury in preterm infants. Part III focuses on CUS and MRI findings of posterior fossa abnormalities in full-term infants with various neonatal disorders. Part VI reviews the main findings and conclusions of this thesis, and discusses future perspectives and proposals for further research. Based on the findings of this thesis, we conclude that in both preterm and critically ill full-term infants CUS protocols should include MF views. This enables early detection of most major and clinically relevant posterior fossa abnormalities. Routine MRI for the detection of small hemorrhagic lesions is not warranted, as these lesions have a favorable prognosis Show less
