Apnea and macrocephaly-cutis marmorata telangiectatica congenita

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-CMTC) is a rare hemi-hypertrophy syndrome impacting neurodevelopment.
• Apnea is a critical concern in affected infants, potentially linked to brainstem compromise.

Observation:

• An infant with Macrocephaly-CMTC presented with developmental delay, respiratory distress, and apneic spells.
• MRI revealed hydrocephalus, hemi-megalencephaly, cerebellar tonsillar herniation, and a narrowed foramen magnum, indicating cervicomedullary cord compression.
• The patient experienced intubation difficulties due to unilateral vocal cord hypertrophy, necessitating a tracheostomy.

Findings:

• This case is the first to report apnea in Macrocephaly-CMTC, likely resulting from cervicomedullary cord compression.
• Unilateral laryngeal hypertrophy may exacerbate airway obstruction and contribute to apnea in these patients.

Implications:

• Highlights the importance of considering airway obstruction and brainstem compromise in Macrocephaly-CMTC patients with apnea.
• Suggests prompt surgical intervention (posterior fossa decompression) for cervicomedullary cord compression.
• Emphasizes the need for careful airway assessment and management in infants with Macrocephaly-CMTC.