Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from oroling...
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Autor*in:	Ng, Andrew [verfasserIn] Galosi, Serena [verfasserIn] Salz, Lisa [verfasserIn] Wong, Terence [verfasserIn] Schwager, Caitlin [verfasserIn] Amudhavalli, Shivarajan [verfasserIn] Gelineau-Morel, Rose [verfasserIn] Chowdhury, Shimul [verfasserIn] Friedman, Jennifer [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	KMT2B Dystonia Failure to thrive Whole genome sequencing

Übergeordnetes Werk:	Enthalten in: BMC neurology - London : BioMed Central, 2001, 20(2020), 1 vom: 16. Juni
Übergeordnetes Werk:	volume:20 ; year:2020 ; number:1 ; day:16 ; month:06

Links:	Volltext

DOI / URN:	10.1186/s12883-020-01798-x

Katalog-ID:	SPR040048896

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520			\|a Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
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allfields	10.1186/s12883-020-01798-x doi (DE-627)SPR040048896 (SPR)s12883-020-01798-x-e DE-627 ger DE-627 rakwb eng 610 ASE 44.00 bkl Ng, Andrew verfasserin aut Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members. KMT2B (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Failure to thrive (dpeaa)DE-He213 Whole genome sequencing (dpeaa)DE-He213 Galosi, Serena verfasserin aut Salz, Lisa verfasserin aut Wong, Terence verfasserin aut Schwager, Caitlin verfasserin aut Amudhavalli, Shivarajan verfasserin aut Gelineau-Morel, Rose verfasserin aut Chowdhury, Shimul verfasserin aut Friedman, Jennifer verfasserin aut Enthalten in BMC neurology London : BioMed Central, 2001 20(2020), 1 vom: 16. Juni (DE-627)326643664 (DE-600)2041347-6 1471-2377 nnns volume:20 year:2020 number:1 day:16 month:06 https://dx.doi.org/10.1186/s12883-020-01798-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 44.00 ASE AR 20 2020 1 16 06
spelling	10.1186/s12883-020-01798-x doi (DE-627)SPR040048896 (SPR)s12883-020-01798-x-e DE-627 ger DE-627 rakwb eng 610 ASE 44.00 bkl Ng, Andrew verfasserin aut Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members. KMT2B (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Failure to thrive (dpeaa)DE-He213 Whole genome sequencing (dpeaa)DE-He213 Galosi, Serena verfasserin aut Salz, Lisa verfasserin aut Wong, Terence verfasserin aut Schwager, Caitlin verfasserin aut Amudhavalli, Shivarajan verfasserin aut Gelineau-Morel, Rose verfasserin aut Chowdhury, Shimul verfasserin aut Friedman, Jennifer verfasserin aut Enthalten in BMC neurology London : BioMed Central, 2001 20(2020), 1 vom: 16. Juni (DE-627)326643664 (DE-600)2041347-6 1471-2377 nnns volume:20 year:2020 number:1 day:16 month:06 https://dx.doi.org/10.1186/s12883-020-01798-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 44.00 ASE AR 20 2020 1 16 06
allfields_unstemmed	10.1186/s12883-020-01798-x doi (DE-627)SPR040048896 (SPR)s12883-020-01798-x-e DE-627 ger DE-627 rakwb eng 610 ASE 44.00 bkl Ng, Andrew verfasserin aut Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members. KMT2B (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Failure to thrive (dpeaa)DE-He213 Whole genome sequencing (dpeaa)DE-He213 Galosi, Serena verfasserin aut Salz, Lisa verfasserin aut Wong, Terence verfasserin aut Schwager, Caitlin verfasserin aut Amudhavalli, Shivarajan verfasserin aut Gelineau-Morel, Rose verfasserin aut Chowdhury, Shimul verfasserin aut Friedman, Jennifer verfasserin aut Enthalten in BMC neurology London : BioMed Central, 2001 20(2020), 1 vom: 16. Juni (DE-627)326643664 (DE-600)2041347-6 1471-2377 nnns volume:20 year:2020 number:1 day:16 month:06 https://dx.doi.org/10.1186/s12883-020-01798-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 44.00 ASE AR 20 2020 1 16 06
allfieldsGer	10.1186/s12883-020-01798-x doi (DE-627)SPR040048896 (SPR)s12883-020-01798-x-e DE-627 ger DE-627 rakwb eng 610 ASE 44.00 bkl Ng, Andrew verfasserin aut Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members. KMT2B (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Failure to thrive (dpeaa)DE-He213 Whole genome sequencing (dpeaa)DE-He213 Galosi, Serena verfasserin aut Salz, Lisa verfasserin aut Wong, Terence verfasserin aut Schwager, Caitlin verfasserin aut Amudhavalli, Shivarajan verfasserin aut Gelineau-Morel, Rose verfasserin aut Chowdhury, Shimul verfasserin aut Friedman, Jennifer verfasserin aut Enthalten in BMC neurology London : BioMed Central, 2001 20(2020), 1 vom: 16. Juni (DE-627)326643664 (DE-600)2041347-6 1471-2377 nnns volume:20 year:2020 number:1 day:16 month:06 https://dx.doi.org/10.1186/s12883-020-01798-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 44.00 ASE AR 20 2020 1 16 06
allfieldsSound	10.1186/s12883-020-01798-x doi (DE-627)SPR040048896 (SPR)s12883-020-01798-x-e DE-627 ger DE-627 rakwb eng 610 ASE 44.00 bkl Ng, Andrew verfasserin aut Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members. KMT2B (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Failure to thrive (dpeaa)DE-He213 Whole genome sequencing (dpeaa)DE-He213 Galosi, Serena verfasserin aut Salz, Lisa verfasserin aut Wong, Terence verfasserin aut Schwager, Caitlin verfasserin aut Amudhavalli, Shivarajan verfasserin aut Gelineau-Morel, Rose verfasserin aut Chowdhury, Shimul verfasserin aut Friedman, Jennifer verfasserin aut Enthalten in BMC neurology London : BioMed Central, 2001 20(2020), 1 vom: 16. Juni (DE-627)326643664 (DE-600)2041347-6 1471-2377 nnns volume:20 year:2020 number:1 day:16 month:06 https://dx.doi.org/10.1186/s12883-020-01798-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 44.00 ASE AR 20 2020 1 16 06
language	English
source	Enthalten in BMC neurology 20(2020), 1 vom: 16. Juni volume:20 year:2020 number:1 day:16 month:06
sourceStr	Enthalten in BMC neurology 20(2020), 1 vom: 16. Juni volume:20 year:2020 number:1 day:16 month:06
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	KMT2B Dystonia Failure to thrive Whole genome sequencing
dewey-raw	610
isfreeaccess_bool	true
container_title	BMC neurology
authorswithroles_txt_mv	Ng, Andrew @@aut@@ Galosi, Serena @@aut@@ Salz, Lisa @@aut@@ Wong, Terence @@aut@@ Schwager, Caitlin @@aut@@ Amudhavalli, Shivarajan @@aut@@ Gelineau-Morel, Rose @@aut@@ Chowdhury, Shimul @@aut@@ Friedman, Jennifer @@aut@@
publishDateDaySort_date	2020-06-16T00:00:00Z
hierarchy_top_id	326643664
dewey-sort	3610
id	SPR040048896
language_de	englisch
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Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. 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author	Ng, Andrew
spellingShingle	Ng, Andrew ddc 610 bkl 44.00 misc KMT2B misc Dystonia misc Failure to thrive misc Whole genome sequencing Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
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topic_title	610 ASE 44.00 bkl Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation KMT2B (dpeaa)DE-He213 Dystonia (dpeaa)DE-He213 Failure to thrive (dpeaa)DE-He213 Whole genome sequencing (dpeaa)DE-He213
topic	ddc 610 bkl 44.00 misc KMT2B misc Dystonia misc Failure to thrive misc Whole genome sequencing
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title	Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
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title_full	Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
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author_browse	Ng, Andrew Galosi, Serena Salz, Lisa Wong, Terence Schwager, Caitlin Amudhavalli, Shivarajan Gelineau-Morel, Rose Chowdhury, Shimul Friedman, Jennifer
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title_sort	failure to thrive - an overlooked manifestation of kmt2b-related dystonia: a case presentation
title_auth	Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
abstract	Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
abstractGer	Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
abstract_unstemmed	Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene. Case presentation We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremity with left foot inversion contracture. The proband and her parents underwent whole genome sequencing. A previously undescribed variant, c.4960 T > C (p.Cys1654Arg), was identified in the KMT2B gene in the proband and mother, and this variant was subsequently confirmed in two maternal cousins, one with failure to thrive. Literature review identified frequent reports of prominent bulbar involvement but failure to thrive is rarely mentioned. Conclusion Failure to thrive is a common pediatric clinical condition that has consequences for growth and development. In the presence of an abnormal neurologic exam, a search for a specific underlying genetic etiology should be pursued. With this case series, we highlight an unusual potentially treatable cause of failure to thrive, reinforce the importance of precise molecular diagnosis for patients with failure to thrive and an abnormal neurologic exam, and underscore the importance of cascade screening of family members.
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title_short	Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
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author2	Galosi, Serena Salz, Lisa Wong, Terence Schwager, Caitlin Amudhavalli, Shivarajan Gelineau-Morel, Rose Chowdhury, Shimul Friedman, Jennifer
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