TY - JOUR
T1 - A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy
T2 - challenges in diagnosis and management
AU - Khan, Tuba Rashid
AU - Dolce, Alison
AU - Goodspeed, Kimberly
N1 - Funding Information:
We acknowledge that this case report was previously presented as an abstract at the 2021 American Academy of Neurology Annual Meeting [Reference: Khan, T., Dolce, A., Goodspeed, K. (2021). A case of Bainbridge-Ropers syndrome with breath holding spells: challenges in diagnosis and management. (5004) Neurology 96 (15 Supplement) 5004 ].
Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - Background: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described. Case presentation: We describe an 11-year old boy who has daily intractable seizures reported since birth, developmental delay, autistic features and feeding difficulties. He was eventually found to have de novo, heterozygous pathogenic variant (c.1612G > T, p.E538*) in the ASXL3 gene. He has frequent episodes of breath-holding accompanied by dystonic posturing with right leg extension and head turning without ictal EEG correlate. The breath-holding spells have been refractory to several medication trials including iron supplementation, acetazolamide, and desipramine. Conclusions: This case represents a more severe phenotype of Bainbridge-Ropers Syndrome than previously described with refractory breath-holding spells with dystonia, intractable epilepsy, and progressive cerebral/cerebellar atrophy. Breath-holding spells cause significant morbidity, are poorly understood, and have very limited treatment options.
AB - Background: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described. Case presentation: We describe an 11-year old boy who has daily intractable seizures reported since birth, developmental delay, autistic features and feeding difficulties. He was eventually found to have de novo, heterozygous pathogenic variant (c.1612G > T, p.E538*) in the ASXL3 gene. He has frequent episodes of breath-holding accompanied by dystonic posturing with right leg extension and head turning without ictal EEG correlate. The breath-holding spells have been refractory to several medication trials including iron supplementation, acetazolamide, and desipramine. Conclusions: This case represents a more severe phenotype of Bainbridge-Ropers Syndrome than previously described with refractory breath-holding spells with dystonia, intractable epilepsy, and progressive cerebral/cerebellar atrophy. Breath-holding spells cause significant morbidity, are poorly understood, and have very limited treatment options.
KW - ASXL3 gene
KW - Bainbridge-Ropers syndrome
KW - Breath-holding spells
UR - http://www.scopus.com/inward/record.url?scp=85124779759&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85124779759&partnerID=8YFLogxK
U2 - 10.1186/s12883-022-02573-w
DO - 10.1186/s12883-022-02573-w
M3 - Article
C2 - 35172777
AN - SCOPUS:85124779759
SN - 1471-2377
VL - 22
JO - BMC Neurology
JF - BMC Neurology
IS - 1
M1 - 60
ER -