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

Ewa Pronicka; Mariola Ropacka-Lesiak; Joanna Trubicka; Magdalena Pajdowska; Markus Linke; Elsebet Ostergaard; Carol Saunders; Sandra Horsch; Clara van Karnebeek; Joy Yaplito-Lee; Felix Distelmaier; Katrin Õunap; Shamima Rahman; Martin Castelle; John Kelleher; Safa Baris; Katarzyna Iwanicka-Pronicka; Colin G Steward; Elżbieta Ciara; Saskia B Wortmann; Additional individual contributors

doi:10.1007/s10545-017-0057-z

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

Ewa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, Magdalena Pajdowska, Markus Linke, Elsebet Ostergaard, Carol Saunders, Sandra Horsch, Clara van Karnebeek, Joy Yaplito-Lee, Felix Distelmaier, Katrin Õunap, Shamima Rahman, Martin Castelle, John Kelleher, Safa Baris, Katarzyna Iwanicka-Pronicka, Colin G Steward, Elżbieta Ciara, Saskia B WortmannAdditional individual contributors

Institut for Klinisk Medicin

5 Citationer (Scopus)

43 Downloads (Pure)

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.

Originalsprog	Engelsk
Tidsskrift	Journal of Inherited Metabolic Disease
Vol/bind	40
Udgave nummer	6
Sider (fra-til)	853-860
Antal sider	8
ISSN	0141-8955
DOI	https://doi.org/10.1007/s10545-017-0057-z
Status	Udgivet - 1 nov. 2017

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10.1007/s10545-017-0057-zLicens: CC BY

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsForlagets udgivne version, 446 KBLicens: CC BY

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Pronicka, E., Ropacka-Lesiak, M., Trubicka, J., Pajdowska, M., Linke, M., Ostergaard, E., Saunders, C., Horsch, S., van Karnebeek, C., Yaplito-Lee, J., Distelmaier, F., Õunap, K., Rahman, S., Castelle, M., Kelleher, J., Baris, S., Iwanicka-Pronicka, K., Steward, C. G., Ciara, E., ... Additional individual contributors (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, 40(6), 853-860. https://doi.org/10.1007/s10545-017-0057-z

Pronicka, E, Ropacka-Lesiak, M, Trubicka, J, Pajdowska, M, Linke, M, Ostergaard, E, Saunders, C, Horsch, S, van Karnebeek, C, Yaplito-Lee, J, Distelmaier, F, Õunap, K, Rahman, S, Castelle, M, Kelleher, J, Baris, S, Iwanicka-Pronicka, K, Steward, CG, Ciara, E, Wortmann, SB & Additional individual contributors 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, bind 40, nr. 6, s. 853-860. https://doi.org/10.1007/s10545-017-0057-z

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

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.",

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author = "Ewa Pronicka and Mariola Ropacka-Lesiak and Joanna Trubicka and Magdalena Pajdowska and Markus Linke and Elsebet Ostergaard and Carol Saunders and Sandra Horsch and {van Karnebeek}, Clara and Joy Yaplito-Lee and Felix Distelmaier and Katrin {\~O}unap and Shamima Rahman and Martin Castelle and John Kelleher and Safa Baris and Katarzyna Iwanicka-Pronicka and Steward, {Colin G} and El{\.z}bieta Ciara and Wortmann, {Saskia B} and {Additional individual contributors}",

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T1 - A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

AU - Pronicka, Ewa

AU - Ropacka-Lesiak, Mariola

AU - Trubicka, Joanna

AU - Pajdowska, Magdalena

AU - Linke, Markus

AU - Ostergaard, Elsebet

AU - Saunders, Carol

AU - Horsch, Sandra

AU - van Karnebeek, Clara

AU - Yaplito-Lee, Joy

AU - Distelmaier, Felix

AU - Õunap, Katrin

AU - Rahman, Shamima

AU - Castelle, Martin

AU - Kelleher, John

AU - Baris, Safa

AU - Iwanicka-Pronicka, Katarzyna

AU - Steward, Colin G

AU - Ciara, Elżbieta

AU - Wortmann, Saskia B

AU - Additional individual contributors

PY - 2017/11/1

Y1 - 2017/11/1

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1007/s10545-017-0057-z

DO - 10.1007/s10545-017-0057-z

M3 - Journal article

C2 - 28687938

SN - 0141-8955

VL - 40

SP - 853

EP - 860

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 6

ER -

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

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