Capillary Hemangioma in Joubert Syndrome: A Case Report

Area of Science:

• Genetics
• Pediatrics
• Neurology

Background:

• Joubert Syndrome (JS) is a rare genetic disorder characterized by brain malformations, particularly affecting the brainstem and cerebellum.
• Joubert Syndrome often presents with hypotonia and developmental delay in affected infants.
• This case involves a female infant with a complicated neonatal course requiring NICU admission.

Observation:

• The patient presented at five months old with classic features of Joubert Syndrome, including molar tooth sign (MTS) on brain MRI.
• Brainstem and cerebellum malformation were identified via magnetic resonance imaging (MRI).
• The infant exhibited hypotonia and developmental delay, consistent with JS diagnosis.

Findings:

• A skin capillary hemangioma on the forehead was an incidental, atypical finding in this Joubert Syndrome patient.
• The capillary hemangioma responded favorably to propranolol treatment, showing significant size reduction.
• This observation suggests capillary hemangiomas may be a potential, albeit uncommon, feature within the spectrum of JS-associated findings.

Implications:

• The favorable response to propranolol highlights a potential treatment avenue for such cutaneous findings in JS patients.
• Expanding the known clinical spectrum of Joubert Syndrome to include cutaneous capillary hemangiomas can aid in earlier diagnosis and management.
• This case underscores the importance of comprehensive evaluation in pediatric patients with complex genetic syndromes.