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Cerebrocostomandibular syndrome: a diagnostic challenge
Alison Conlon1, Evangelia Fragkouli2, Ailbhe Tarrant3
1Department of Neonatology, Children's Health, Dublin, Ireland.
BMJ Case Reports
|May 23, 2024
Summary
This case study details a male infant diagnosed with cerebrocostomandibular syndrome. Genetic testing identified a pathogenic variant in the small nuclear ribonucleoprotein polypeptide B gene, confirming the rare diagnosis.
Area of Science:
- Medical Genetics
- Pediatric Medicine
- Rare Diseases
Background:
- Cerebrocostomandibular syndrome (CCMS) is a rare congenital disorder characterized by specific craniofacial and skeletal abnormalities.
- Infants with CCMS often present with significant respiratory distress and feeding difficulties due to airway compromise.
Purpose of the Study:
- To report a case of cerebrocostomandibular syndrome in a male infant.
- To highlight the diagnostic challenges and clinical manifestations of CCMS.
- To present the genetic findings associated with the syndrome.
Main Methods:
- Clinical observation and physical examination of the neonate.
- Radiographic imaging including chest X-rays and facial bone/skull/brain scans.
- Genetic testing to identify pathogenic variants.
Main Results:
- The infant presented with microretrognathia, macroglossia, and initial respiratory failure requiring intubation and tracheostomy.
- Imaging revealed dysplastic ribs, high-riding clavicles, mandibular hypoplasia, and opacified middle ear cavities.
- Genetic analysis confirmed CCMS by detecting a pathogenic variant in the small nuclear ribonucleoprotein polypeptide B gene (SNRPB).
Conclusions:
- This case underscores the complex presentation of cerebrocostomandibular syndrome, emphasizing the need for early recognition and genetic confirmation.
- The identification of a SNRPB gene variant provides further insight into the genetic basis of CCMS.
- Multidisciplinary management is crucial for addressing the airway, feeding, and developmental challenges in affected infants.
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