ABSTRACT
Superficial siderosis of the central nervous system is a chronic condition characterized by hemosiderin deposition in the brain and spinal cord. It's diagnosed by brain MRI. It can be caused by low-grade extravasation of blood into the subarachnoid space of the brain. There are 2 types of superficial siderosis cortical and infratentorial. Although asymptomatic in many cases; Cerebellar-predominant siderosis, a subtype of infratentorial, can affect hearing, gait, and even muscles. In this report, we present a case of a 51-year old female with complaints of hearing loss, unsteadiness in his lower limb, and spastic paresis. During MRI neuroimaging, we noticed findings of hypointensity areas within the brainstem and cerebellum, probably due to hemosiderin deposition. Based on the MRI findings, the patient was diagnosed with superficial siderosis. The patient was started on deferiprone and followed for the consecutive 18 months. Moderate improvement of the hearing loss and ataxia was noted while no change in muscle force. However, the repetitive MRI did not reveal any changes compared to the previous one.
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.
