Schizencephaly: An Incredibly A Rare Disease (Case Report and Review of Literature)

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Schizencephaly: An Incredibly A Rare Disease (Case Report and Review of Literature)

Journal Title: Journal of Medical Science And clinical Research - Year 2014, Vol 2, Issue 4

Abstract

Schizencephaly is an extremely rare cortical malformation that manifest as a grey matter lined cleft extending from ependymal to the piamater .It is also known as split brain disease. It usually presents itself in childhood and in rare cases in adults. The most common mode of presentation is hemiparesis and recurrent seizure. Dr. Inder Maurya et al. Page 673 JMSCR Volume||02||Issue||04||Page 672-676|April 2014 2014 INTRODUCTION Schizencephaly as a disease is so rare that even today we don’t know its exact incidence and prevalence. In a study carried out in California, USA prevalence of schizencephaly was estimated to be 1.5 per 100,000 live births in a population of 4 million live births from 1985 to 2001 [1]. The incidence is unknown. There are two types of Schizencephaly. Type 1 or closed Schizencephaly and Type 2 or open Schizencephaly. Type 2 is the more common form of Schizencephaly. Yakovlev and Waldsworth coined the term Schizencephaly in 1946 and described that primitive normoblast fail to migrate in their normal mode thereby resulting into cerebral cleft. CASE REPORT A 22 year old male came to the Emergency department with 2 episodes of convulsion. The convulsion lasted for 2 minutes .There were total 3 episodes of convulsion with 5 min interval each. It was a complex partial seizure (CPS) with rolling eyes and froth in the mouth. It was precipitated by fall in the bathroom and relieved by Injection Eptoin 100mg loading and Injection Lopez. The last episode of seizure was took place 3 years back. The seizure was not associated with Fever, headache, dizziness, or photophobia. There is no history of tinnitus or hearing loss. There was no chest pain, palpitation or shortness of breath. There was no history of nausea, vomiting, and abdominal pain, urinary or fecal incontinence. There is no history of diarrhea. The there is no history of skin rash or joint pain. There is no history of travel. There is no history of night sweats, weight loss or fatigue. Sleep and appetite is normal. His mother gives a history of convulsion since the age of 5 which persisted till 12years of age. She describes it as aura of nonspecific black out with dystonic posturing of both the hands lasting for 1- 2 minutes. There was a honey moon period form the age 12 to age 19 where the patient did not experience any seizure hence the local doctor stopped his seizure medication. Patient has now started experiencing frequent seizure since last 3 yrs. There are 1 – 2 episodes per month of CPS and had experienced 5 to 6 episodes of GTC in last 3 year. The patient was started on Tab Decorate 250 mg once a day. He is non-compliant with his medication. The birth history was unremarkable. It was full term normal vaginal delivery with no birth related complication. All the milestones’ were achieved. History of immunization was up-to-date. There is We present to you a case of 21 year old male who came to our Emergency department with recurrent seizure and the CT scan imaging showed Type 2 schizencephaly. This case highlights the importance of how uncommon diseases may have a common mode of presentation.

Authors and Affiliations

Dr. Inder Maurya

Keywords

EP ID EP205679
DOI -
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