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Phenylketonuria in three siblings
  1. Igor de Assis Franco1,
  2. Ane Maria dos Anjos Florinda1,
  3. Fabrício Guimarães Gonçalves2,
  4. Marcelo Masruha Rodrigues3,
  5. Thiago Cardoso Vale4
  1. 1 Department of Neurology, Hospital e Maternidade São José, Conselheiro Lafaiete, Brazil
  2. 2 Department of Neuroradiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
  3. 3 Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Sao Paulo, Brazil
  4. 4 Neurology, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil
  1. Correspondence to Dr Igor de Assis Franco, Department of Neurology, Hospital e Maternidade São José, Conselheiro Lafaiete, 36400-000, Brazil; igorafranco1{at}gmail.com

https://doi.org/10.1136/pn-2023-003815

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    Three siblings—two men aged 40 and 50 years and a woman aged 36 years—born from consanguineous parents, had histories of delayed motor milestones (walking only after aged 3 years), intellectual disability (unable to read and write) and epilepsy. MR scan of brain (figure 1) showed that all three had the same pattern of white matter changes with confluent periventricular and deep white matter hyperintensities.

    Figure 1

    Similar brain MRI findings in three siblings born to consanguineous parents with phenylketonuria. The upper row (A–D) shows images of the man aged 40 years, the middle row (E–H) shows images of the man aged 50 years and the lower row (I–L) shows images of …

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    Footnotes

    • Contributors 1. Case report project: A. Conception, B. Organisation, C. Execution; 2. Imaging: A. Conception, B. Organisation, C. Execution; 3. Manuscript: A. Writing of the first draft, B. Review and critique. IdAF: 1A, 1B, 1C, 2A, 3A, 3B. TCV: 1A, 2A, 2B, 3A, 3B. AMdAF: 1A, 1B, 1C, 2A, 3A, 3B. FGG: 2A, 2B, 2C, 3A, 3B. MMR: 1A, 1B, 3A, 3B.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally reviewed by Robin Lachmann, London, UK.

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