Author: drpareshKdesai

Paresh Desai • Radiology Margao Goa, India

Familial Multiple Cavernous Angiomas: Screening of a Family Over Three Generations

INTRODUCTION

Cavernous angiomas belong to a group of intracranial vascular malformations that are developmental malformations of the vascular bed. These congenital abnormal vascular connections frequently enlarge over time. The lesions can occur on a familial basis. Patients may be asymptomatic, although they often present with headaches, seizures, or small parenchymal hemorrhages.

In most patients cavernous angiomas are solitary and asymptomatic. In recent times, increasing MR imaging has detected several such asymptomatic cases and has prompted a study into the genetics and natural history of this condition.

It is now known that cavernous angiomas have a genetic basis. Familial forms of cavernous angiomas are associated with a set of genes called CCM genes (cerebral cavernous angioma).

This is a case report describing the phenotypic expression of a familial form of cavernous angioma.

CASE REPORT

A 54-year-old man was referred for MRI Brain with complaints of headache and seizures. A cranial CT scan revealed few hyperdense lesions.

A subsequent cranial MR scan revealed several lesions with features representing cavernous angiomas.

The patient was offered counseling and treated conservatively. Genetic testing was not possible due to the high prohibitive cost. However, screening of the family members by MRI was recommended.

Cranial MR imaging of the immediate family members was performed. Four brothers of the patient and his mother were found to have multiple cavernous angiomas.

The father, youngest brother and his younger sister were found not to have any such lesion. Both the children of the patient were also found to be free of these lesions. Incidentally, a meningioma was found in the father of the patient.

DISCUSSION

Cavernous angiomas are typically discrete multilobulated lesions that contain hemorrhage in various stages of evolution. Because they are lobulated and dark red to blue, the lesions grossly resemble small mulberries. They are said to …

How to report Transient Splenial Lesion and How Often to Follow It Up?

A 39-year-old man with history of tingling sensation on the left half of Face.

MRI revealed a solitary lesion in the splenium of the corpus callosum, hyperintense on T2/FLAIR and hypointense on T1W images. There is diffusion restriction.

This lesion was presumed demyelinating in view of h/o upper respiratory tract infection. At 6-week follow up MRI the lesion resolved completely.

Various etiologies have been reported for transient splenial lesions like:

  • Seizures
  • Sudden withdrawal of antiepileptic drugs
  • Brain infarction
  • Multiple sclerosis
  • Cerebral trauma
  • Neoplasm
  • Adrenoleukodystrophy
  • AIDS dementia complex
  • Infections like influenza, measles, herpes,  Salmonella, mumps, adenovirus, varicella zoster, Legionnaires disease, rotavirus, HIV, tubercular meningitis
  • Hypoglycemia
  • Marchiafava-Bignami syndrome
  • Hemolytic-uremic syndrome with encephalopathy

In absence of significant history of any of these conditions, how do we report this lesion and how often follow it up with MR?…