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Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review

(2019) ACTA CLINICA BELGICA. 74(6). p.460-464
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Abstract
We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features and bilateral cataract. Genetic analysis of the OCRL gene showed a novel variant in exon 13: c.1250T>A, p.Val417Asp; in silico and segregation analysis confirmed the variant to be pathogenic, compatible with the diagnosis of the oculocerebrorenal syndrome of Lowe. Lowe syndrome is a rare multisystemic disorder; the diagnostic triad requires involvement of the eye, central nervous system and the proximal renal tubule. Typical clinical features are congenital cataract, glaucoma, hypotonia, mental and behavioral problems, benign skin lesions, platelet dysfunction and dental abnormalities. Phenotypic features early in life may be nonspecific, which is illustrated by this case with a late manifestation of cataract. Because an early diagnosis can lead to better counseling and treatment, we suggest urinary testing for proteinuria as a part of the evaluation of children with unexplained hypotonia.
Keywords
Delayed motor development, proximal renal tubular acidosis, hypotonia, proteinuria, oculocerebrorenal syndrome of Lowe

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MLA
David, Sara, et al. “Hypotonia and Delayed Motor Development as an Early Presentation of Lowe Syndrome : Case Report and Literature Review.” ACTA CLINICA BELGICA, vol. 74, no. 6, 2019, pp. 460–64, doi:10.1080/17843286.2018.1551743.
APA
David, S., De Waele, K., De Wilde, B., Faes, F., Vanakker, O., WALRAEDT, S., & Prytula-Ebels, A. (2019). Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review. ACTA CLINICA BELGICA, 74(6), 460–464. https://doi.org/10.1080/17843286.2018.1551743
Chicago author-date
David, Sara, Kathleen De Waele, Bram De Wilde, Franny Faes, Olivier Vanakker, SOPHIE WALRAEDT, and Agnieszka Prytula-Ebels. 2019. “Hypotonia and Delayed Motor Development as an Early Presentation of Lowe Syndrome : Case Report and Literature Review.” ACTA CLINICA BELGICA 74 (6): 460–64. https://doi.org/10.1080/17843286.2018.1551743.
Chicago author-date (all authors)
David, Sara, Kathleen De Waele, Bram De Wilde, Franny Faes, Olivier Vanakker, SOPHIE WALRAEDT, and Agnieszka Prytula-Ebels. 2019. “Hypotonia and Delayed Motor Development as an Early Presentation of Lowe Syndrome : Case Report and Literature Review.” ACTA CLINICA BELGICA 74 (6): 460–464. doi:10.1080/17843286.2018.1551743.
Vancouver
1.
David S, De Waele K, De Wilde B, Faes F, Vanakker O, WALRAEDT S, et al. Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review. ACTA CLINICA BELGICA. 2019;74(6):460–4.
IEEE
[1]
S. David et al., “Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review,” ACTA CLINICA BELGICA, vol. 74, no. 6, pp. 460–464, 2019.
@article{8613675,
  abstract     = {{We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features and bilateral cataract. Genetic analysis of the OCRL gene showed a novel variant in exon 13: c.1250T>A, p.Val417Asp; in silico and segregation analysis confirmed the variant to be pathogenic, compatible with the diagnosis of the oculocerebrorenal syndrome of Lowe. Lowe syndrome is a rare multisystemic disorder; the diagnostic triad requires involvement of the eye, central nervous system and the proximal renal tubule. Typical clinical features are congenital cataract, glaucoma, hypotonia, mental and behavioral problems, benign skin lesions, platelet dysfunction and dental abnormalities. Phenotypic features early in life may be nonspecific, which is illustrated by this case with a late manifestation of cataract. Because an early diagnosis can lead to better counseling and treatment, we suggest urinary testing for proteinuria as a part of the evaluation of children with unexplained hypotonia.}},
  author       = {{David, Sara and De Waele, Kathleen and De Wilde, Bram and Faes, Franny and Vanakker, Olivier and WALRAEDT, SOPHIE and Prytula-Ebels, Agnieszka}},
  issn         = {{1784-3286}},
  journal      = {{ACTA CLINICA BELGICA}},
  keywords     = {{Delayed motor development,proximal renal tubular acidosis,hypotonia,proteinuria,oculocerebrorenal syndrome of Lowe}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{460--464}},
  title        = {{Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review}},
  url          = {{http://dx.doi.org/10.1080/17843286.2018.1551743}},
  volume       = {{74}},
  year         = {{2019}},
}

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