The skin as the mirror of the soul: familial multiple cavernous malformation syndrome in an infant with a ruptured intracranial cavernoma and multiple skin lesions.
Soares R & Navarro R • Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery • 2026
An 8-month-old infant with familial multiple cavernous malformation syndrome presented with a ruptured intracranial cavernoma causing mass effect, with cutaneous manifestations serving as an external indicator of the underlying genetic condition, managed with surgical resection, propranolol, and levetiracetam.
Key Findings
Background
An 8-month-old infant presented with signs of increased intracranial pressure, seizures, and multiple intracranial cavernomas, most notably a ruptured left temporal cavernoma causing significant local mass effect.
The patient was 8 months old at presentation
Clinical presentation included signs of increased intracranial pressure and seizures
The left temporal cavernoma had bled and was causing significant local mass effect
Background
The infant exhibited cutaneous manifestations of cavernous malformation syndrome outside the CNS, serving as an external indicator of the underlying condition.
Multiple skin lesions were present alongside the intracranial cavernomas
The cutaneous findings were described as reflecting the underlying systemic cavernous malformation syndrome
The title metaphorically describes skin as 'the mirror of the soul,' suggesting skin lesions can signal internal pathology
These cutaneous manifestations are characteristic of the familial form of the syndrome
Results
Genetic testing confirmed a KRIT1/CCM-1 gene mutation as the causative aetiology of the familial multiple cavernous malformation syndrome.
The identified mutation was in the KRIT1/CCM-1 gene
The genetic finding had significance not only for the infant but also for their immediate family
The mutation confirmed a familial form of cavernous malformation syndrome
This genetic diagnosis carries implications for family screening and counseling
Results
Surgical resection of the left temporal haemorrhage was performed and the infant recovered well.
Surgical intervention targeted the left temporal bleeding cavernoma
The primary indication was significant local mass effect
Post-operative recovery was described as good
Surgery was the acute management strategy for the ruptured lesion
Results
Subacute management included regular propranolol use to reduce the incidence and burden of clinically significant haemorrhages, and levetiracetam for seizure control.
Propranolol was used regularly with the aim of reducing the incidence and burden of clinically significant haemorrhages
Levetiracetam was prescribed for seizure control
Ongoing clinical reviews including repeat MRI scans were part of the subacute management plan
This medical management strategy addresses both the hemorrhagic and epileptic aspects of the condition
What This Means
This research describes the case of an 8-month-old baby who was brought to medical attention with symptoms of pressure building in the skull and seizures. Scans revealed multiple abnormal blood vessel clusters (cavernomas) in the brain, one of which had burst and was pressing on surrounding brain tissue. Notably, the baby also had visible skin lesions, which turned out to be an external sign of the same underlying condition affecting the brain. Genetic testing revealed a mutation in a gene called KRIT1/CCM-1, confirming that this was an inherited condition — meaning other family members may also carry the mutation and could be at risk.
The immediate treatment involved surgery to remove the bleeding lesion in the left temporal region of the brain, after which the infant recovered well. Longer-term management included the heart medication propranolol (used here with the goal of reducing future bleeding episodes from cavernomas) and the anti-seizure medication levetiracetam, along with regular follow-up brain scans.
This research suggests that visible skin lesions in infants can sometimes serve as an important clue pointing to a serious underlying genetic condition affecting the brain and blood vessels. Early recognition of these skin findings, combined with genetic testing, can lead to faster diagnosis and allow for screening of other family members who may be unaware they carry the same mutation. The case also highlights the complexity of managing cavernous malformation syndrome in very young children, where both surgical and medical approaches may be needed.
Soares R, Navarro R. (2026). The skin as the mirror of the soul: familial multiple cavernous malformation syndrome in an infant with a ruptured intracranial cavernoma and multiple skin lesions.. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. https://doi.org/10.1007/s00381-026-07260-6