Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Maartje C. van Rij; Fenna A. R. Jansen; Debby M. E. I. Hellebrekers; W. Onkenhout; Bert Smeets; Alexandra T. Hendrickx; Ralph W. H. Gottschalk; Sylke J. Steggerda; Cacha M. P. C. D. Peeters-Scholte; Monique C. Haak; Yvonne Hilhorst-Hofstee

doi:10.1002/ccr3.511

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Maartje C. van Rij^*, Fenna A. R. Jansen, Debby M. E. I. Hellebrekers, W. Onkenhout, Bert Smeets, Alexandra T. Hendrickx, Ralph W. H. Gottschalk, Sylke J. Steggerda, Cacha M. P. C. D. Peeters-Scholte, Monique C. Haak, Yvonne Hilhorst-Hofstee

^*Corresponding author for this work

Research output: Contribution to journal › Editorial › Academic › peer-review

Abstract

Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels.

Original language	English
Pages (from-to)	425-428
Journal	Clinical Case Reports
Volume	4
Issue number	4
DOIs	https://doi.org/10.1002/ccr3.511
Publication status	Published - Apr 2016

Keywords

Cerebellar atrophy
encephalomyopathy
FBXL4 gene
lactate
mitochondrial encephalopathy
polyhydramnios
pyruvate

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van Rij, M. C., Jansen, F. A. R., Hellebrekers, D. M. E. I., Onkenhout, W., Smeets, B., Hendrickx, A. T., Gottschalk, R. W. H., Steggerda, S. J., Peeters-Scholte, C. M. P. C. D., Haak, M. C., & Hilhorst-Hofstee, Y. (2016). Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. Clinical Case Reports, 4(4), 425-428. https://doi.org/10.1002/ccr3.511

@article{ac0e9742f09a40edbec46d1260f26171,

title = "Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene",

abstract = "Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels.",

keywords = "Cerebellar atrophy, encephalomyopathy, FBXL4 gene, lactate, mitochondrial encephalopathy, polyhydramnios, pyruvate",

author = "\{van Rij\}, \{Maartje C.\} and Jansen, \{Fenna A. R.\} and Hellebrekers, \{Debby M. E. I.\} and W. Onkenhout and Bert Smeets and Hendrickx, \{Alexandra T.\} and Gottschalk, \{Ralph W. H.\} and Steggerda, \{Sylke J.\} and Peeters-Scholte, \{Cacha M. P. C. D.\} and Haak, \{Monique C.\} and Yvonne Hilhorst-Hofstee",

year = "2016",

month = apr,

doi = "10.1002/ccr3.511",

language = "English",

volume = "4",

pages = "425--428",

journal = "Clinical Case Reports",

issn = "2050-0904",

publisher = "Wiley",

number = "4",

}

van Rij, MC, Jansen, FAR, Hellebrekers, DMEI, Onkenhout, W, Smeets, B, Hendrickx, AT, Gottschalk, RWH, Steggerda, SJ, Peeters-Scholte, CMPCD, Haak, MC & Hilhorst-Hofstee, Y 2016, 'Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene', Clinical Case Reports, vol. 4, no. 4, pp. 425-428. https://doi.org/10.1002/ccr3.511

TY - JOUR

T1 - Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

AU - van Rij, Maartje C.

AU - Jansen, Fenna A. R.

AU - Hellebrekers, Debby M. E. I.

AU - Onkenhout, W.

AU - Smeets, Bert

AU - Hendrickx, Alexandra T.

AU - Gottschalk, Ralph W. H.

AU - Steggerda, Sylke J.

AU - Peeters-Scholte, Cacha M. P. C. D.

AU - Haak, Monique C.

AU - Hilhorst-Hofstee, Yvonne

PY - 2016/4

Y1 - 2016/4

N2 - Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels.

AB - Key Clinical Message Severe recessive mitochondrial myopathy caused by FBXL4 gene mutations may present prenatally with polyhydramnios and cerebellar hypoplasia. Characteristic dysmorphic features are: high and arched eyebrows, triangular face, a slight upslant of palpebral fissures, and a prominent pointed chin. Metabolic investigations invariably show increased serum lactate and pyruvate levels.

KW - Cerebellar atrophy

KW - encephalomyopathy

KW - FBXL4 gene

KW - lactate

KW - mitochondrial encephalopathy

KW - polyhydramnios

KW - pyruvate

U2 - 10.1002/ccr3.511

DO - 10.1002/ccr3.511

M3 - Editorial

C2 - 27099744

SN - 2050-0904

VL - 4

SP - 425

EP - 428

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 4

ER -

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Abstract

Keywords

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