Septo-optic dysplasia PLUS syndrome in a 23 years old patient: A case report

Septo-optic dysplasia (SOD) is a rare malformation defined by septum pellucidum abnormalities and hypoplasia of the optic nerves and chiasm. It can be associated with cortical development malformations such as schizencephaly, which is then called septo-optic dysplasia plus. It usually manifests at birth, although it may not be diagnosed until childhood, or rarely, adolescence. We report the case of a 23 years old patient, with a history of epilepsy since early childhood never labeled, which was diagnosed with SOD-PLUS with brain MRI in our department

A case of tuberous sclerosis complex revealed by epilepsy

Tuberous sclerosis complex is a multisystem genetic disease with autosomal dominant inheritance, characterized by the development of benign tumors known as hamartomas that affect multiple organs. It is a condition with a wide phenotypic spectrum, and its clinical presentation varies over time within the same individual. Hence, the importance of early screening and rigorous monitoring of evolving clinical manifestations. Diagnosis can occur at any age. These tumors are generally benign, but their size and location can have a significant impact on the prognosis and, in some cases, even on life expectancy. Cardiac, neurological, and cutaneous manifestations are most common in childhood. The onset of early and severe epilepsy within the first year of life is associated with neurodevelopmental disorders that impact the quality of life for affected individuals and their families. We present a case of a 22-year-old female patient experiencing inaugural epileptic seizures in adulthood, with magnetic resonance imaging revealing subependymal hamartomas, cortical tubers and radial migration bands accompanied by polycystic kidney disease; the diagnosis of tuberous sclerosis complex was established based on the association of these lesions, which constitute major and minor criteria

Posterior reversible encephalopathy syndrome (PRES): Should more attention be paid to the atypical forms?

Posterior reversible encephalopathy syndrome (PRES) is an uncommon, but important, pathology affecting primarily the posterior cerebral circulation. Typical imaging features include vasogenic edema involving the bilateral occipital and parietal lobes. We report 4 cases of atypical PRES: The first one is a 59-year-old woman with a medical history of diabetes and hypertension who presented a consciousness disorder. MRI of this patient revealed signal abnormalities in the thalamus, the cerebellum, the brainstem and the corpus callosum with microbleeds and vascularization disorders. The second patient is a 41-year-old woman admitted for right hemiparesis and facial paralysis. Physical examination found a hypertension and the atypical imaging features on MRI were low ADC values with a pearl necklace appearance on ARM sequences. The third patient is a 32-year-old woman who undergone a surgery for an ectopic pregnancy and went in a coma for 8 days. Physical and biological parameters were normal. Diagnosis was delayed because of atypical signal abnormalities in caudal and lentiform nuclei that worsened on follow-up MRI, resulting in a dramatic evolution to bilateral cecity and psychosis. The last case is a 34-year-old woman with terminal renal failure hospitalized for spontaneously resolving tonic-clonic seizures. Biology showed high uremia and brain MRI revealed a gyriform enhancement at gadolinium injection with unilateral putamen lesion. The patient improved after blood purification. Knowledge of these atypical findings can help the radiologist make an accurate, timely diagnosis, and improve patient care

Coats’ syndrome: A rare cause of infant leukocoria to keep in mind

Leukocoria is an aberration of the eyeball that interferes with normal reflection. It shows up as a white or gray pupillary reflex rather than the bright red or orange pupil of the other eye. Leukocoria can be brought on by a variety of ocular pathologies, with retinoblastoma being the most common. We present the case of a 17-month-old guy who had unilateral leukocoria and whose orbital MRI was ordered on the basis of retinoblastoma suspicion. The results, however, were more suggestive of Coats disease than retinoblastoma. Telangiectasia and exudate, which frequently afflict males’ unilateral eyes, are the hallmarks of Coats’ illness. Depending on the stage of the disease, there are differences in its severity, course, and outlook. It is crucial to get therapy and a diagnosis for retinal problems as soon as possible. Although uncommon, there are still many people who are not familiar with Coats’ disease. This paper aims to describe imaging findings in Coats' disease

Schizencephaly: A rare cause of late-onset epilepsy in an adult

Schizencephaly, a rare congenital cerebral deformity that affects the cerebral mantle and is caused by both hereditary and acquired factors, is defined by a cleft that spans the entire cerebral hemisphere from the lateral ventricle to the cerebral cortex. Adult symptoms have only been described in a few cases in the literature. Hemiparesis, developmental delays, or seizures are manifestations of the clinical presentation, which is dependent on the size and location of the lesion. Neuroimaging investigations, particularly MRI, enable the diagnosis and rule out other causes. Usually discovered at birth, this entity begins to show up in the first several years. To prevent receiving the wrong treatment, the ailment must be correctly diagnosed. We report the observation of a 43-year-old patient with partial epileptic seizures but with an asymptomatic childhood, in relation to unilateral closed cleft schizencephaly associated with gray matter heterotopia. In this case, we highlight the importance of neuroimaging, in particular MRI on the diagnosis of this entity and to identify the associated anomalies