UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

Pronicka, E; Ropacka-Lesiak, M; Trubicka, J; Pajdowska, M; Linke, M; Ostergaard, E; Saunders, C; (2017) A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. Journal of Inherited Metabolic Disease 10.1007/s10545-017-0057-z. (In press). Green open access

[img]
Preview
Text
s10545-017-0057-z.pdf - ["content_typename_Published version" not defined]

Download (460kB) | Preview

Abstract

Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected to patients with virtual absence of development. Muscular hypo- and hypertonia, movement disorder and progressive brain atrophy are frequently reported. We present the foetal, peri- and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical severity scoring system rating the clinical, metabolic, imaging and other findings weighted by the age of onset. Our data are illustrated by foetal and neonatal videos. The patients were classified as having a mild (n = 4), moderate (n = 13) or severe (n = 14) disease phenotype. The most striking feature of the severe subtype was the neonatal absence of voluntary movements in combination with ventilator dependency and hyperexcitability. The foetal and neonatal presentation mirrored the course of disease with respect to survival (current median age 17.5 years in the mild group, median age of death 35 days in the severe group), severity and age of onset of all findings evaluated. CLPB deficiency should be considered in neonates with absence of voluntary movements, respiratory insufficiency and swallowing problems, especially if associated with 3-methylglutaconic aciduria, neutropenia and cataracts. Being an important differential diagnosis of hyperekplexia (exaggerated startle responses), we advise performing urinary organic acid analysis, blood cell counts and ophthalmological examination in these patients. The neonatal presentation of CLPB deficiency predicts the course of disease in later life, which is extremely important for counselling.

Type: Article
Title: A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Location: Netherlands
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s10545-017-0057-z
Publisher version: http://doi.org/10.1007/s10545-017-0057-z
Language: English
Additional information: © The Author(s) 2017. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Keywords: 3-methylglutaconic aciduria, Cataracts, Hyperekplexia, Neutropenia, Prenatal movement disorder, Prenatal seizures
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health
URI: http://discovery.ucl.ac.uk/id/eprint/1563776
Downloads since deposit
5Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item