JMSCR Volume||02||Issue||04||Page 672-676|April 2014 2014 www.jmscr.igmpublication.org Impact Factcor-1.1147 ISSN (e)-2347-176x Schizencephaly: An Incredibly A Rare Disease (Case Report and Review of Literature) Authors Dr. Inder Maurya MD Junior Resident Department of Emergency Medicine,Padmashree. Dr. DY Patil Medical College Nerul , Navi Mumbai 400706,Maharashtra(India),Mob: :+ 91- 9833828161 Email; [email protected] Dr. Ketan Vagholkar MS, DNB, MRCS, FACS, Professor, Department of Surgery,Padmashree. Dr. DY Patil Medical College Nerul , Navi Mumbai, 400706,Maharashtra(India), Mob: +91-9821341290 Email: [email protected] Dr. Kanika Jhamb Department of General Medicine,Padmashree. Dr. DY Patil Medical College Nerul , Navi Mumbai 400706,Maharashtra(India),Mob: :+ 91- 9819727605 Email; [email protected] 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 672 JMSCR Volume||02||Issue||04||Page 672-676|April 2014 2014 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. Keywords: Open lip schizencephaly, seizure, premature death, CT scan INTRODUCTION Schizencephaly as a disease is so rare that even is no history of tinnitus or hearing loss. There was today we don’t know its exact incidence and no chest pain, palpitation or shortness of breath. prevalence. In a study carried out in California, There was no history of nausea, vomiting, and USA prevalence of schizencephaly was estimated abdominal pain, urinary or fecal incontinence. to be 1.5 per 100,000 live births in a population of There is no history of diarrhea. The there is no 4 million live births from 1985 to 2001 [1]. The history of skin rash or joint pain. There is no incidence is unknown. There are two types of history of travel. There is no history of night Schizencephaly. Type 1 or closed Schizencephaly sweats, weight loss or fatigue. Sleep and appetite and Type 2 or open Schizencephaly. Type 2 is the is normal. His mother gives a history of more common form of Schizencephaly. convulsion since the age of 5 which persisted till Yakovlev and Waldsworth coined the term 12years of age. She describes it as aura of non- Schizencephaly in 1946 and described that specific black out with dystonic posturing of both primitive normoblast fail to migrate in their the hands lasting for 1- 2 minutes. normal mode thereby resulting into cerebral cleft. There was a honey moon period form the age 12 CASE REPORT to age 19 where the patient did not experience any A 22 year old male came to the Emergency seizure hence the local doctor stopped his seizure department with 2 episodes of convulsion. The medication. Patient has now started experiencing convulsion lasted for 2 minutes .There were total frequent seizure since last 3 yrs. There are 1 – 2 3 episodes of convulsion with 5 min interval each. episodes per month of CPS and had experienced 5 It was a complex partial seizure (CPS) with to 6 episodes of GTC in last 3 year. The patient rolling eyes and froth in the mouth. It was was started on Tab Decorate 250 mg once a day. precipitated by fall in the bathroom and relieved He is non-compliant with his medication. The by Injection Eptoin 100mg loading and Injection birth history was unremarkable. It was full term Lopez. The last episode of seizure was took place normal vaginal delivery with no birth related 3 years back. The seizure was not associated with complication. All the milestones’ were achieved. Fever, headache, dizziness, or photophobia. There History of immunization was up-to-date. There is Dr. Inder Maurya et al. Page 673 JMSCR Volume||02||Issue||04||Page 672-676|April 2014 2014 no family history of seizure in parents or siblings. examination was normal. Kernig’s sign and There is no history of Allergy. Patient is a non- Brudzinski’s sign absent. No nuchal rigidity and alcoholic and non-smoker with no history of memory loss. Gait normal. Romberg’s sign substance abuse. negative. The CVS,RS , and per Abdominal On Physical Examination patient was oriented in examinations were unremarkable. time place and person. The vitals were stable. Complete Blood count, CRP, ESR, Liver Function There was no pallor, icterus, cyanosis, clubbing, test, Renal Function test Lipid profile, Random koilonychia or lymphadenopathy or peripheral blood sugar, Serum electrolytes, Serum Calcium edema. Fundoscopy revealed no papilledema. No and Magnesium, Urine analysis were sent and tongue bite. Cranium and spinal examination was came back normal. EKG, Chest X ray and 2 D normal. Cranial Nerves 1–12 intact. Reflex 2+ on echo was done and was unremarkable. CT scan of both sides. Motor strength 5/5 and power intact the brain was done and it showed Type 2 both sides. Babinski sign absent. Sensory schizencephaly Fig.1. Fig 1. Type2 Open Schizencephaly MRI was offered but the patient refused due to financial limitation. Sodium valproate was started and patient was counselled for proper compliance of the medication. DISCUSSION: Waldsworth referred to the localized failure of Schizencephaly is an extremely rare congenital evagination and coined the term schizencephaly disorder characterized by infolding of cortical for it in 1946 [2,3]. They postulated in their theory gray matter along a hemispheric cleft near the that focal developmental defect in the wall of primary cerebral fissure. Yakovlev and cerebral mantle was due to failure of migration of Dr. Inder Maurya et al. Page 674 JMSCR Volume||02||Issue||04||Page 672-676|April 2014 2014 primitive normoblast in their normal mode Clinical presentation; It is seen in different age thereby resulting in cerebral cleft extending from group but commonly seen in paediatric age group. subarachnoid space to ventricular system. The It may have an adult onset or may be diagnosed aetiology of it could be genetics or sporadic. late [7] . Clinical features depend upon the extent Sporadic being the most common[1]. Risk factors to which cerebral cortex in involved. Bilateral include young mother, monozygotic twin (RR) cleft is associated with the varied presentation 2.1, infection, toxins and environmental factors. from development delays to speech and language Levine and Co-workers have attributed it to a disorder. destructive, possibly an ischemic insult during Most patients have uncontrollable seizure which early gestation at a time when neuronal migration often mimics cerebral palsy, epilepsy etc. takes place. Brunelli et al have reported EMX2 Seizures are difficult to control in 1/3rd of cases. gene (10q2.6) heterozygous mutation is associated GTC, CPS, Partial seizure, sensory seizure are its with severe schizencephaly [4], although this various forms. theory has recently been disproved. Scoliosis is an important part of Schizencephaly Tietjen et al (2007) sequenced the EMX2 gene in due to one side of brain is developed more than a cohort of 84 probands with schizencephaly, and other side causing to child to compensate their found no pathologic mutations and suggested that usage on other side of body resulting in curvature EMX2 mutations are an uncommon cause of of spine. schizencephaly [5]. The role of CMV infection in Optic nerve hypoplasia may result in blindness. It the complex multi pathogenesis is also possible is characteristics in 70 % cases . [6]. Schizencephaly is of two types. Type 1 or Motor deficit are predominant feature in Type 2 Closed Schizencephaly with cleft wall opposed Schizencephaly, whereas Mental retardation is causing obliteration of CSF space within the cleft. most common in bilateral closed lip variety of Type 2 or Open Schizencephaly with cleft wall Schizencephaly. Premature death is common. separated and the CSF fills the cleft from Lateral Recently some association of schizencephaly is ventricles to subarachnoid space. Type 2 or Open seen with patients of OCD and psychosis [8, 9]. Schizencephaly is most common. Sometimes both The diagnosis of Schizencephaly can be made in the types of Schizencephaly can coexist in the utero by Ultrasound during the ANC check-up as same patient. The cleft can be unilateral or early as 23 weeks or post-partum by cranial bilateral. The Neuropathological features include Ultrasound [12, 13] US shows defect in the cleft line lined with gray matter, polymicroglia, cerebral mantle in the area of sylvian fissure and subarachnoid cyst. Septum pellucidum is absent in visualization of communication between enlarged 80 to 90 % of cases. It can also coexist with septic lateral ventricle and subarachnoid space. optic dysplasia. CT scan shows only slight out pouching at the ependymal surface and full thickness cleft may be Dr. Inder Maurya et al. Page 675 JMSCR Volume||02||Issue||04||Page 672-676|April 2014 2014 difficult to identify on CT scan. The degree of [2] Yakovlev PI, Wadsworth RC. Schiz- confidence is high when gray matter lining of the encephalies: A study of the congenital clefts in the cleft can be identified. cerebral mantle. I. Clefts with fused lips. J MRI is the most sensitive test in diagnosing Neuropathol Exp Neuro 1946; 5: 116-130.[3] Schizencephaly and is the imaging modality of Yakovlev PI, Wadsworth RC. Schiz-encephalies: choice [10.11]. Type 1 is seen as nipple like out A study of the congenital clefts in the cerebral pouching at the ependymal surface whereas Type mantle.