Porencephaly is a rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space.
The term "porencephaly" (from the Latin word porus, meaning "communication") was first introduced by Heschl in 1859 to describe clefts or cavities in the cerebral mantle. The more common etiologic factors are encephalimalacia of brain parenchyma due to ischemic or hemorrhagic insults, infections, traumatic brain injury. It may be congenial. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. Surviving half a century with a porencephaly due to shrapnel within brain accompanied with psychosis is the rarest condition of medical history.
Mrs. `N` is a 65-year-old woman suffering from self-talk, hearing of unknown voices, odd behavior and suspiciousness. According to the patient attendant, half a century ago, during the Liberation War of Bangladesh, one of the mortar shells accidentally exploded in their backyard. Unfortunately, at that time a few pieces of shrapnel penetrated her head. She lost her consciousness and cannot memorize details of her treatment. Last 50 years, she has led a normal life except movement difficulties and weaknesses of the left upper and lower limbs. She also suffered from occassional headaches, dizziness, vomiting. For the last 1 year she gradually developed insomnia, forgetfulness, fearfulness, self talk and odd behavior. Two months back, she drank some insecticide. She complains about hearing of unknown voices. The are voices talking about her. She started to suspect her family members and often claim that they were conspiring to kill her. Patient had history of convulsions for two or three times in the last 50 years. She didn’t take any medication for convulsion. As patient psychotic behavior worsened, her family members took her to Psychiatrist for treatment.
An X-ray skull was advised. Surprisingly, it showed a metallic foreign body (shrapnel) lodged within her skull. Furthermore, a CT scan of the brain was advised, and there was was an artifact (shrapnel) at right frontal area with encephaloclastic cyst in right cerebral. The patient and her attendant unaware about shrapnel. She was advised Risperidone 2mg daily and her psychosis were controlled.
Porencephaly followed by TBI is a rare condition. Surviving 50 years with shrapnel within brain along with encephaloclastic porencephaly and psychotic presentation is the rarest condition in the world. There are very few case studies available in scientific journals.
Porencephaly may be classified as Sporadic porencephaly and familial Porencephaly. Sporadic porencephaly is usually the result of damage from stroke, infection before after birth, trauma, maternal disease or sickness, maternal diabetes, or maternal use of alcohol or drugs such as cocaine during pregnancy. Familial porencephaly is a less common type, which is inherited is caused by abnormal development before birth and occurs due to mutations of the COL4A1 gene.
Symptoms of porencephaly vary from one person to another based upon the size and exact locations. Symptoms include delayed growth and development, spastic hemiplegia, hypotonia, seizures, and macrocephaly or microcephaly.
Differential diagnoses include arachnoid cyst, schizencephaly, ependymal cyst, encephalomalacia, hydranencephaly, and other COL4A1 or COL4A2 related diseases, including childhood stroke, CADASIL and retinal vasculopathy with cerebral leukodystrophy.
Diagnosis of porencephaly:
Porencephaly is diagnosed by computed tomography (CT), magnetic resonance imaging (MRI), or ultrasonography.
Treatment of porencephaly is supportive, which may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain.
Porencephaly prognosis is variable depending on the location and extent of the cysts or cavities.
Psychotic presentation of porencephaly is also rare. Very few case studies available in scientific Journals. 50 years survival with porencephaly along with shrapnel within the brain are the rarest conditions of medical science.