A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke

Suzi Mansour; Rayanne Mahfouz; Sandy Rabah; Suzanne Borrhomee

doi:doi:10.11648/j.ajp.20220804.16

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A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke

Suzi Mansour, Rayanne Mahfouz, Sandy Rabah, Suzanne Borrhomee

Published in American Journal of Pediatrics (Volume 8, Issue 4)

Received: 25 July 2022 Accepted: 11 August 2022 Published: 21 October 2022

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Abstract

The Zellweger disorders (ZSDs) is a prototype of the peroxisome biosynthesis disorders described as a cerebro-hepato-renal syndrome. It is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction such as profound hypotonia, weakness, neonatal seizures, craniofacial abnormalities, and liver dysfunction. Biochemical screening shows the absence of peroxisomes. Brain MRI finds cortical and white matter abnormalities, but it is not known to be associated with ischemic stroke. Here we report a rare case of a newborn presenting with a profound persistent hypotonia, bilateral clubfeet, and refractory seizure, who is diagnosed with Zellweger syndrome associated with ischemic stroke. Because ischemic neonatal stroke has not yet been described in Zellweger Syndrome, this specific association could lead to even greater diagnosis delay, making the situation harder on the medical team and of course the parents. We believe acknowledging the possibility of ischemic stroke in Zellweger Syndrome could help physicians achieve a diagnosis faster if they encounter a similar case. When we are confronted to refractory seizures in a newborn with an ischemic stroke, physicians must keep searching for arguments in favor of a differential diagnosis, and Zellweger Syndrome is one that should not be overlooked.

Published in	American Journal of Pediatrics (Volume 8, Issue 4)
DOI	10.11648/j.ajp.20220804.16
Page(s)	225-228
Creative Commons	This is an Open Access article, 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 or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2022. Published by Science Publishing Group

Keywords

Zellweger Syndrome, Stroke, Hypotonia, Refractory Neonatal Seizure

References

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[3]	Femke C. C. Klouwer, Kevin Berendse, [...], and Bwee Tien Poll-The. Zellweger spectrum disorders: clinical overview and management approach 2015 Dec 1. OrphanetJRare dis. doi: 10.1186/s13023-015-0368-9. PMID: 26627182.
[4]	Hoda Z Abdel-Hamid, MD; Peroxisomal Disorders; Medscape; 2020 Jul 29.
[5]	Wanders, R. J. A, Metabolic and molecular basis of peroxisomal disorders, Am. J. Med. Genet. 2004. PubMed 15098234.
[6]	Cory M Pfeifer and Carlos A Martinot. Zellweger syndrome: Description of MRI findings in early infancy at 3.0 Tesla. NeuroradiolJ 2017 Oct 2017 Apr 28. doi: 10.1177/1971400917700670.
[7]	Bwee Tien Poll-The, Jutta Gärtner. Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. Biochimica et Biophysica Acta 1822 (2012) 1421–1429.
[8]	M. H. Lequin, J. Dudink, K. A. Tong, A. Obenaus. Magnetic resonance imaging in neonatal stroke. Seminars in Fetal and Neonatal Medicine, Volume 14, Issue 5, October 2009, Pages 299-310.
[9]	Dhamija R., Patterson MC., Wirrell EC. Epilepsy in children—when should we think neurometabolic disease ?J ChildNeurol 2012, 27: 663.
[10]	Susan R. Levy, MD," Israel F. Abroms, MD," Paul C. Marshall, MD, + and Elizabeth E. Rosquete, MDt. Seizures and Cerebral Infarction in the Full-Term Newborn. Ann Neurol 17: 366-370, 1985.
[11]	GlassHC, Shellhaas RA, Wusthoff CJ, et al. Contemporary profile of Seizures in Neonates: A Prospective Cohort Study. J Pedaitr 2016: 174: 98.
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[13]	Hsich GE, Robertson RL, Irons M, et al. Cerebral infarction in Menkes' disease. Pediatr Neurol 2000; 23: 425.
[14]	van den Berg M, van der Knaap MS, Boers GH, Stehouwer CD, Rauwerda JA, Valk J. Hyperhomocysteinaemia; with reference to its neuroradiological aspects. Neuroradiology. 1995 Jul. 37 (5): 403-11.
[15]	Martinez M. Restoring the DHA levels in the brains of Zellweger patients. J Mol Neurosci 2001; 16: 309.
[16]	Paker AM, Sunness JS, Brereton NH, et al. Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial. Neurology 2010; 75: 826.
[17]	Thornton MD, Chen L, Langhan ML. Neonatal seizures: soothing a burning topic. Pediatr Emerg Care. 2013 Oct; 29 (10): 1107-10.
[18]	Tekgul H, Gauvreau K, Soul J, Murphy L, Robertson R, Stewart J, Volpe J, Bourgeois B, du Plessis AJ. The current etiologic profile and neurodevelopmental outcome of seizures in term newborn infants. Pediatrics. 2006 Apr; 117 (4): 1270-80. doi: 10.1542/peds.2005-1178. PMID: 16585324.
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APA Style

Suzi Mansour, Rayanne Mahfouz, Sandy Rabah, Suzanne Borrhomee. (2022). A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke. American Journal of Pediatrics, 8(4), 225-228. https://doi.org/10.11648/j.ajp.20220804.16

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ACS Style

Suzi Mansour; Rayanne Mahfouz; Sandy Rabah; Suzanne Borrhomee. A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke. Am. J. Pediatr. 2022, 8(4), 225-228. doi: 10.11648/j.ajp.20220804.16

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AMA Style

Suzi Mansour, Rayanne Mahfouz, Sandy Rabah, Suzanne Borrhomee. A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke. Am J Pediatr. 2022;8(4):225-228. doi: 10.11648/j.ajp.20220804.16

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@article{10.11648/j.ajp.20220804.16,
  author = {Suzi Mansour and Rayanne Mahfouz and Sandy Rabah and Suzanne Borrhomee},
  title = {A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke},
  journal = {American Journal of Pediatrics},
  volume = {8},
  number = {4},
  pages = {225-228},
  doi = {10.11648/j.ajp.20220804.16},
  url = {https://doi.org/10.11648/j.ajp.20220804.16},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20220804.16},
  abstract = {The Zellweger disorders (ZSDs) is a prototype of the peroxisome biosynthesis disorders described as a cerebro-hepato-renal syndrome. It is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction such as profound hypotonia, weakness, neonatal seizures, craniofacial abnormalities, and liver dysfunction. Biochemical screening shows the absence of peroxisomes. Brain MRI finds cortical and white matter abnormalities, but it is not known to be associated with ischemic stroke. Here we report a rare case of a newborn presenting with a profound persistent hypotonia, bilateral clubfeet, and refractory seizure, who is diagnosed with Zellweger syndrome associated with ischemic stroke. Because ischemic neonatal stroke has not yet been described in Zellweger Syndrome, this specific association could lead to even greater diagnosis delay, making the situation harder on the medical team and of course the parents. We believe acknowledging the possibility of ischemic stroke in Zellweger Syndrome could help physicians achieve a diagnosis faster if they encounter a similar case. When we are confronted to refractory seizures in a newborn with an ischemic stroke, physicians must keep searching for arguments in favor of a differential diagnosis, and Zellweger Syndrome is one that should not be overlooked.},
 year = {2022}
}

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TY  - JOUR
T1  - A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke
AU  - Suzi Mansour
AU  - Rayanne Mahfouz
AU  - Sandy Rabah
AU  - Suzanne Borrhomee
Y1  - 2022/10/21
PY  - 2022
N1  - https://doi.org/10.11648/j.ajp.20220804.16
DO  - 10.11648/j.ajp.20220804.16
T2  - American Journal of Pediatrics
JF  - American Journal of Pediatrics
JO  - American Journal of Pediatrics
SP  - 225
EP  - 228
PB  - Science Publishing Group
SN  - 2472-0909
UR  - https://doi.org/10.11648/j.ajp.20220804.16
AB  - The Zellweger disorders (ZSDs) is a prototype of the peroxisome biosynthesis disorders described as a cerebro-hepato-renal syndrome. It is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction such as profound hypotonia, weakness, neonatal seizures, craniofacial abnormalities, and liver dysfunction. Biochemical screening shows the absence of peroxisomes. Brain MRI finds cortical and white matter abnormalities, but it is not known to be associated with ischemic stroke. Here we report a rare case of a newborn presenting with a profound persistent hypotonia, bilateral clubfeet, and refractory seizure, who is diagnosed with Zellweger syndrome associated with ischemic stroke. Because ischemic neonatal stroke has not yet been described in Zellweger Syndrome, this specific association could lead to even greater diagnosis delay, making the situation harder on the medical team and of course the parents. We believe acknowledging the possibility of ischemic stroke in Zellweger Syndrome could help physicians achieve a diagnosis faster if they encounter a similar case. When we are confronted to refractory seizures in a newborn with an ischemic stroke, physicians must keep searching for arguments in favor of a differential diagnosis, and Zellweger Syndrome is one that should not be overlooked.
VL  - 8
IS  - 4
ER  -

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Author Information

Suzi Mansour

Department of Neonatology, Rene Dubos Hospital, Pontoise, France
Rayanne Mahfouz

Department of Neonatology, Rene Dubos Hospital, Pontoise, France
Sandy Rabah

Department of Neonatology, Rene Dubos Hospital, Pontoise, France
Suzanne Borrhomee

Department of Neonatology, Rene Dubos Hospital, Pontoise, France

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Plain Text BibTeX RIS

APA Style

Suzi Mansour, Rayanne Mahfouz, Sandy Rabah, Suzanne Borrhomee. (2022). A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke. American Journal of Pediatrics, 8(4), 225-228. https://doi.org/10.11648/j.ajp.20220804.16

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ACS Style

Suzi Mansour; Rayanne Mahfouz; Sandy Rabah; Suzanne Borrhomee. A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke. Am. J. Pediatr. 2022, 8(4), 225-228. doi: 10.11648/j.ajp.20220804.16

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AMA Style

Suzi Mansour, Rayanne Mahfouz, Sandy Rabah, Suzanne Borrhomee. A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke. Am J Pediatr. 2022;8(4):225-228. doi: 10.11648/j.ajp.20220804.16

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@article{10.11648/j.ajp.20220804.16,
  author = {Suzi Mansour and Rayanne Mahfouz and Sandy Rabah and Suzanne Borrhomee},
  title = {A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke},
  journal = {American Journal of Pediatrics},
  volume = {8},
  number = {4},
  pages = {225-228},
  doi = {10.11648/j.ajp.20220804.16},
  url = {https://doi.org/10.11648/j.ajp.20220804.16},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20220804.16},
  abstract = {The Zellweger disorders (ZSDs) is a prototype of the peroxisome biosynthesis disorders described as a cerebro-hepato-renal syndrome. It is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction such as profound hypotonia, weakness, neonatal seizures, craniofacial abnormalities, and liver dysfunction. Biochemical screening shows the absence of peroxisomes. Brain MRI finds cortical and white matter abnormalities, but it is not known to be associated with ischemic stroke. Here we report a rare case of a newborn presenting with a profound persistent hypotonia, bilateral clubfeet, and refractory seizure, who is diagnosed with Zellweger syndrome associated with ischemic stroke. Because ischemic neonatal stroke has not yet been described in Zellweger Syndrome, this specific association could lead to even greater diagnosis delay, making the situation harder on the medical team and of course the parents. We believe acknowledging the possibility of ischemic stroke in Zellweger Syndrome could help physicians achieve a diagnosis faster if they encounter a similar case. When we are confronted to refractory seizures in a newborn with an ischemic stroke, physicians must keep searching for arguments in favor of a differential diagnosis, and Zellweger Syndrome is one that should not be overlooked.},
 year = {2022}
}

Copy | Download

TY  - JOUR
T1  - A Rare Case of Zellweger Syndrome Associated with Neonatal Ischemic Stroke
AU  - Suzi Mansour
AU  - Rayanne Mahfouz
AU  - Sandy Rabah
AU  - Suzanne Borrhomee
Y1  - 2022/10/21
PY  - 2022
N1  - https://doi.org/10.11648/j.ajp.20220804.16
DO  - 10.11648/j.ajp.20220804.16
T2  - American Journal of Pediatrics
JF  - American Journal of Pediatrics
JO  - American Journal of Pediatrics
SP  - 225
EP  - 228
PB  - Science Publishing Group
SN  - 2472-0909
UR  - https://doi.org/10.11648/j.ajp.20220804.16
AB  - The Zellweger disorders (ZSDs) is a prototype of the peroxisome biosynthesis disorders described as a cerebro-hepato-renal syndrome. It is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction such as profound hypotonia, weakness, neonatal seizures, craniofacial abnormalities, and liver dysfunction. Biochemical screening shows the absence of peroxisomes. Brain MRI finds cortical and white matter abnormalities, but it is not known to be associated with ischemic stroke. Here we report a rare case of a newborn presenting with a profound persistent hypotonia, bilateral clubfeet, and refractory seizure, who is diagnosed with Zellweger syndrome associated with ischemic stroke. Because ischemic neonatal stroke has not yet been described in Zellweger Syndrome, this specific association could lead to even greater diagnosis delay, making the situation harder on the medical team and of course the parents. We believe acknowledging the possibility of ischemic stroke in Zellweger Syndrome could help physicians achieve a diagnosis faster if they encounter a similar case. When we are confronted to refractory seizures in a newborn with an ischemic stroke, physicians must keep searching for arguments in favor of a differential diagnosis, and Zellweger Syndrome is one that should not be overlooked.
VL  - 8
IS  - 4
ER  -

Copy | Download