A Rare Cause of Intellectual Disability
Íris Oliveira1, Andreia Fernandes1, Mafalda Pereira1
1Pediatrics, Centro Hospitalar Universitário do Algarve - Unidade de Faro, Faro, PRT.
Cureus
|February 1, 2024
Summary
Autosomal dominant mental retardation type 7 (MRD7) is a rare genetic syndrome causing developmental delay and intellectual disability. Early intervention is crucial for improving a child's future autonomy and developmental path.
Area of Science:
- Genetics
- Developmental Pediatrics
- Neurology
Background:
- Autosomal dominant mental retardation type 7 (MRD7) is a rare genetic syndrome.
- It is characterized by developmental delay, intellectual disability, microcephaly, and specific facial features.
Observation:
- A seven-year-old female presented with global developmental delay, particularly in expressive language.
- Neurological examination revealed axial hypotonia with appendicular hypertonia.
- Facial features included deep-set eyes, a high nasal bridge, and retrognathia.
Findings:
- Whole-exome sequencing confirmed the diagnosis of MRD7.
- MRD7 typically presents with early-onset developmental delay, intellectual disability, and language impairment.
- Microcephaly is a prominent feature, observed in over 90% of cases.
Implications:
- Early diagnosis and intervention are critical for improving outcomes in children with MRD7.
- Early intervention can positively impact a child's developmental trajectory and future autonomy.
- Understanding MRD7 aids in differentiating it from similar genetic syndromes like Angelman syndrome or Mowat-Wilson syndrome.
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