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Optic pathway cavernous malformations represent less than 1% of all central nervous system cavernomas. They can lead to visual loss with indeterminate speed, and therefore, the timing of intervention is controversial. We present a patient with an optic nerve cavernoma, which was discovered incidentally 3 years before the onset of visual symptoms. The evolution of her symptoms, visual function and radiographic findings are reported in detail. The cavernoma was eventually removed via a transciliary orbitocranial keyhole approach with the goal to protect the optic chiasm from progressive involvement. The function in the affected optic nerve was not salvageable. This is the second reported case of a cavernoma selectively involving the intracranial portion of the optic nerve. The debate on the timing of intervention is highlighted with reference to the natural history of these rare lesions., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time. Both the index patients had a seizure as a prominent manifestation of their underlying structural lesion. One of them had recurrent attacks of bleeding in the cavernoma leading to a focal neurological deficit. The siblings and the parents of both the patients were screened using CT of the brain imaging. Two members within each family were found to have symptomatic cavernoma. A molecular genetics study revealed heterozygous KRIT1/CCM1 for a frameshift mutation in one of the patients. No detectable mutation was found in the other patient. These cases illustrate the existence of this condition beyond the commonly known geographical area of higher prevalence. Moreover, KRIT1/CCM1 might be the possible target gene that is mutated in this region.

Brain irradiation has several well-known long-term side effects, including radiation-induced neoplasms and vasculopathy. In this case report, we describe an extremely rare case of meningioma and 15 cavernomas developing in a 29-year-old man, 19 years after cranial irradiation for posterior cranial fossa medulloblastoma. To our knowledge, this is the first case of a radiation-induced meningioma accompanied by this many radiation-induced cavernous angiomas.

Cerebral cavernous malformations (CMs) are typically not seen during conventional digital subtraction angiography (DSA) and are therefore classically referred to as angiographically occult malformations. We present three cases in which DSA with selective intra-arterial contrast injection in the common carotid artery and C-arm cone beam CT imaging was able to demonstrate a CM. In addition, an associated developmental venous anomaly (DVA) was present in all three cases, although detected by MRI in only one of them. In light of this finding, we suspect that the incidence of DVA associated with CM is probably higher than previously reported.

Cerebral cavernous malformation (CCM) in infants tends to have genetic predisposition. These cavernomas have a progressive course of events and associated neurological symptoms with increase in age. They most commonly present with seizure and syndrome of increased intracranial pressure comprising of headache, vomiting and focal neurological signs. We describe a case of a 7-month-old infant who presented with an acute onset of right facial paralysis with a background of familial CCM. The CT and MRI scan revealed fresh haemorrhage in the right cerebellar and pontine cavernomas with surrounding oedema and no evidence of obstructive hydrocephalus. These two cavernomas re-bled in a week duration causing episodes of incessant crying and irritability. After discussing the pros and cons of treatment, owing to stable clinical status, the patient is currently been managed conservatively.

An 18-year-old Caucasian man presented with a sudden onset right hemiparesis. On examination, he had objective evidence of an upper motor neuron lesion affecting the right side of his body. CT scan showed a left thalamic haemorrhage. MRI, gradient echo and cerebral angiogram showed no structural lesion and the cause of the bleeding was ultimately attributed to the use of cocaine. During the subsequent 2 years the patient had two further similar episodes, with an MRI eventually demonstrating a cerebral cavernous malformation. This was excised using frameless stereotactic surgery, following which the patient made an uneventful recovery.

The authors present the case of a 25-year-old individual who presented acutely following a generalised tonic-clonic seizure. Brain MRI of the individual demonstrated the classical appearance of multiple cerebral cavernous haemangiomas (cavernomas). There was an autosomal dominant family history. Genetic testing identified a truncating mutation in the KRIT1 gene in the individual and confirmed the diagnosis of familial cerebral cavernomas as the cause of epilepsy in the family.

A 21-year-old man presented to the accident and emergency department at St Peter's Hospital, London, in September 2008. Following consumption of alcohol, the patient had been assaulted and had experienced facial trauma. Later, the patient had a witnessed generalised tonic-clonic seizure and the next day noted weakness of the right leg. A CT scan of the brain revealed a solitary lesion in the left presylvian region close to the vertex, involving the leg area of the primary motor cortex. A subsequent MRI scan showed the lesion to be a cavernous haemangioma. The patient had no history of epilepsy. This raised the question as to whether the assault caused the lesion to haemorrhage, resulting in the seizure and spastic monoparesis, or did the formerly asymptomatic cavernoma bleed spontaneously with the assault being coincidental?