Intraparenchymal hemorrhage and cerebral venous thrombosis in an adult with congenital porencephalic cyst presenting for generalized tonic-clonic seizures.

Prothrombotic conditions are known risk factors for porencephalic cyst formation and cerebral vein thrombosis. Intracerebral hemorrhage is a potential complication of a cerebral vein thrombosis. Porencephaly is a risk factor for intracerebral hemorrhage and cerebral vein thrombosis formation. We present the case of an adult patient with a past medical history of epilepsy and congenital porencephalic cyst with de novo mutation of the COL4A1 gene who presented for episodes of generalized tonic-clonic seizure after a substantial symptom-free period. A brain CT scan showed an intracerebral hemorrhage with porencephalic cyst and superior sagittal sinus thrombosis despite negative thrombophilia work-up. A CT perfusion study, CT angiography, and brain MRI confirmed the diagnosis. The cause-and-effect relationship between porencephalic cysts, cerebral venous thrombosis, and intracerebral hemorrhage is still not clear in the literature.

Madelung's Disease Leading to Presenile Dementia in a Non-alcoholic Patient.

INTRODUCTION: Madelung's disease (MD) is a rare disorder of unknown etiology defined as the presence of multiple and symmetrical fatty accumulations most commonly involving the upper trunk, neck, and head. Excessive alcohol ingestion has been linked traditionally to the pathogenesis of the disease. The central and peripheral nervous system could both be affected. Presenile dementia, without alcohol abuse, has been rarely reported in the literature as a complication. AIM: The aim of this case report is to highlight that multiple symmetric lipomatosis can be complicated by presenile dementia even if the patient is non-alcoholic. CASE REPORT: This case report describes a middle age non-alcoholic woman who presented for increased forgetfulness. Brain CT scan showed cerebral and cerebellar atrophy inappropriate for her age. Despite being started on anticholinergic drug, her MMSE decreased 3 points in 1 year. CONCLUSION: Clinicians should consider early onset dementia as a potential complication of Madelung's disease even in patients with no preceding history of alcoholism. A brain MRI and MMSE can aid with identifying such a complication.