A rare constellation of congenital cranial anomalies
AJ Mathew, RP Yamuna, C Rajasekharan
Department of Internal Medicine, Medical College Hospital, Trivandrum, Kerala, India
Department of Internal Medicine, Medical College Hospital, Trivandrum, Kerala
|How to cite this article:|
Mathew A J, Yamuna R P, Rajasekharan C. A rare constellation of congenital cranial anomalies.J Postgrad Med 2010;56:150-151
|How to cite this URL:|
Mathew A J, Yamuna R P, Rajasekharan C. A rare constellation of congenital cranial anomalies. J Postgrad Med [serial online] 2010 [cited 2020 Apr 7 ];56:150-151
Available from: http://www.jpgmonline.com/text.asp?2010/56/2/150/65290
Developmental anomalies in adults can remain unnoticed until they produce overt clinical signs. We report a 20-year-old lady with multiple anomalies who presented with generalized seizures for the first time. She was born by normal vaginal delivery and had an uneventful childhood, with average scholastic performance. At four years of age her mother noticed a swelling over the right medial aspect of the nose, which enlarged gradually as she grew older. All the anthropometric parameters and head circumference were corresponding to her age on examination. A soft, non-expansile, ovoid swelling was noticed on her right medial canthus. She had a divergent squint, with a manifest nystagmus in her right eye. Her visual acuity was only perception of light in the right eye and there was loss of temporal half of visual field in the left eye. Fundus examination showed optic atrophy in the right eye. Assessment of her intelligence revealed a borderline mental retardation. She also had a right-side hemiparesis. The rest of her systemic examination was unremarkable.
Her complete blood count, blood sugar, serum electrolytes, renal parameters and liver function tests and electro-encephalogram were normal. Visual fields, assessed by Humphrey's field analyzer, revealed a left eye temporal hemianopia. Her computed tomography imaging demonstrated a 7 mm defect in the anterior part of the left cribriform plate and a 2 mm defect on the right side. Magnetic resonance imaging showed absence of septum pellucidum [Figure 1] along with anterior columns of the fornix. The right optic nerve showed hypoplasia [Figure 2]. This combination of features indicated septo-optic dysplasia. The meninges herniated through the widened foramen cecum into the nasal region on either side, forming a sac-like structure and the orbito-frontal gyri dipped down into the deep cribriform fossa, suggesting frontoethmoidal meningoencephalocele [Figure 3]. There was an abnormal gray matter thickening in the anterior-most part of the orbito-frontal and cingulate gyrus on the right side, suggestive of subcortical nodular heterotopia. A small 'nipple' was seen in the margin of the left lateral ventricle indicating closed lip schizencephaly. Thickened cortex with microlobulation was seen in the entire perisylvian region. The combination suggested bilateral perisylvian (holosylvian) polymicrogyria along with unilateral closed-lip schizencephaly on the left side.
All the anomalies reported in this case have been described in the literature independently with other syndromes. , Overlapping phases of neural development, end result of several different genetic abnormalities and in-utero injuries occurring during the overlap of dorsal induction phase and migration phase may be hypothesized as the cause for the combination of these anomalies. Polymicrogyria is an abnormality in the cortical development, characterized by numerous small gyri separated by shallow sulci with fusion of adjacent molecular layers and abnormal cortical cyto-architecture.  Schizencephalies are migrational disorders of the brain which are characterized by gray-matter-lined clefts that extend from the ependymal surface of the brain through white matter to pia. Heterotopias refer to an ectopic collection of gray matter caused by a failure of neuronal migration. Right-side hemiparesis in the reported case may be explained by polymicrogyria, which could also be the cause for her seizures.  Mild mental retardation and epilepsy have been described in unilateral closed-lip schizencephaly.  Surprisingly this lady with multiple congenital neurological anomalies remained reasonably asymptomatic all these years.
|1||Arshad AR, Selvapragasam T. Frontoethmoidal encephalocele: Treatment and outcome. J Craniofac Surg 2008;19:175-83.|
|2||Polizzi A, Pavone P, Iannetti P, Manfrι L, Ruggieri M. Septo-optic dysplasia complex: A heterogeneous malformation syndrome. Pediatr Neurol 2006;34:66-71.|
|3||Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, et al. Periventricular nodular heterotopia with overlying polymicrogyria. Brain 2006;16:169-71.|
|4||Taneja S, Chaturvedi AK. Bilateral perisylvian syndrome - A case report. Ind J Radiol Imag. 2006;16:169-71.|
|5||Caraballo RH, Cersσsimo RO, Fejerman N. Unilateral closed-lip schizencephaly and epilepsy: A comparison with cases of unilateral polymicrogyria. Brain Dev 2004;26:151-7.|