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CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype
Aurora Currò1, Gabriella Doddato1, Mirella Bruttini1
1Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
European Journal of Medical Genetics
|November 21, 2020
Summary
Genetic conditions like CDKL5 disorder and Pitt-Hopkins syndrome share symptoms. Adult CDKL5 patients may develop coarse facial features, mimicking Pitt-Hopkins syndrome and complicating diagnosis.
Area of Science:
- Genetics
- Neurology
- Clinical Medicine
Background:
- Genetic conditions present diverse phenotypes, often diagnosed through clinical features and history.
- CDKL5 disorder and Pitt-Hopkins syndrome are known genetic conditions with overlapping symptoms like early-onset epilepsy and hyperventilation.
- Facial features are key for Pitt-Hopkins syndrome diagnosis, while clinical history is crucial for CDKL5 mutations.
Observation:
- A 24-year-old female presented with a phenotype resembling Pitt-Hopkins syndrome.
- Her facial features coarsened over time, prompting extensive molecular testing.
- The patient was ultimately diagnosed with CDKL5-related disorder (CDKL5-early-epileptic encephalopathy).
Findings:
- Peculiar facial features can emerge in adult CDKL5 patients, mimicking Pitt-Hopkins syndrome.
- This challenges initial diagnoses, as typical facial gestalt in adult CDKL5 cases is not well-documented.
- Clinical history remains vital, but evolving facial characteristics can mislead diagnosis.
Implications:
- Considering CDKL5 disorder in the differential diagnosis of Pitt-Hopkins syndrome is crucial for complex cases.
- Recognizing atypical presentations in adult genetic disorders aids accurate diagnosis.
- This case underscores the importance of longitudinal observation of phenotypic changes in genetic conditions.
