ABSTRACT
Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his name. SOD is a combination of triads of hypoplasia of the optic nerve, agenesis of midline brain structures, and hypoplasia of the hypothalamic-pituitary axis. The pathophysiology of this rare congenital anomaly is yet to be understood, with some hypotheses in order to establish the diagnosis. The management modality depends on the presentation of the disease and requires a multidisciplinary approach. While most SOD patients present with visual, neurological, or endocrine abnormalities, in our case the patient was diagnosed incidentally while following up after an episode of acute respiratory distress syndrome and sepsis. We aim to highlight the aspects of clinical presentation in a patient with SOD and the importance of a multimodality follow-up approach.
ABSTRACT
Focal cortical dysplasia is a malformation of cortical development in which there are abnormalities with cortical lamination, neuronal maturation, and neuronal differentiation. It is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Herein, we present the case of 23-years-old female patient, presenting with loss of consciousness, and convulsions. A MRI revealed a 5mm cortical thickening on either side of the posterior aspect of the right superior temporal gyrus without transmantle extension towards ventricle. This abnormal area is measured about 24x16mm and there was no evidence for mesial temporal sclerosis. Both hippocampi are normal is size, morphology and signal. These features are consistent with cortical dysplasia type 1. This case report emphasizes the importance of MRI in the detection of FCD. MRI can show no abnormalities in type 1 FCD, but when the changes are apparent, they are on the temporal lobe, and seizures presents most commonly in adults.
