ABSTRACT
PURPOSE: This case report describes a case of Horner syndrome resulting from central nervous system (CNS) toxoplasmosis in an immunocompromised patient. Horner Syndrome is a neurological condition characterized by unilateral miosis, ptosis with apparent enophthalmos, and anhidrosis due to inhibition of the sympathetic pathway. The ocular sympathetic pathway runs from the posterolateral hypothalamus to the ophthalmic branch of the trigeminal nerve (cranial nerve V1). Central nervous system (CNS) toxoplasmosis infection is typically only seen in immunocompromised patients. To our knowledge, toxoplasmosis has never been reported as a cause of Horner syndrome. OBSERVATIONS: A forty-four-year-old Caucasian male was admitted to the hospital for left upper extremity paresthesias, gait instability, and painful vesicular skin lesions, and Horner syndrome. Upon review, he had an 18-year history of HIV initially controlled on anti-retrovirals but had been lost to follow-up for several years until he developed severe headaches determined to be caused by Toxoplasmosis lesions in his brain. Over several months he was treated for the Toxoplasmosis but had poor adherence to medications. After subsequent admission and workup, we found multi-focal ring enhancing lesions on MRI in the basal ganglia, hypothalamus, thalamus, and internal capsule. We postulated that the hypothalamic lesion was the cause of his Horner syndrome. After treatment for both toxoplasmosis and HSV his Horner syndrome and other neurologic symptoms resolved. CONCLUSIONS AND IMPORTANCE: This is the first reported case of Horner syndrome resulting from CNS toxoplasmosis. This case report and the accompanying questions provide an opportunity to review and explore the neuroanatomy and subtle symptomatic differences between various etiologies of Horner syndrome (primary, secondary, tertiary) in the context of a novel presentation. In conclusion, toxoplasmosis should be considered when investigating Horner syndrome in immunocompromised patients.
ABSTRACT
BACKGROUND: In high-income countries patients with Huntington disease (HD) typically present to healthcare providers after developing involuntary movements, or for pre-symptomatic genetic testing if at familial risk. A positive family history is a major guide when considering the decision to perform genetic testing for HD, both in affected and unaffected patients. Management of HD is focused upon control of symptoms, whether motor, cognitive, or psychiatric. There is no clear evidence to date of any disease-modifying agents. Referral of families and caregivers for psychological and social support, whether to HD-focused centers, or through virtual communities, is viewed as an important consequence of diagnosis. The experience of healthcare for such progressive neurodegenerative diseases in low- and middle-income nations is in stark contrast with the standard of care in high-income countries. METHODS: An extended family with many members affected with an autosomal dominantly inherited movement disorder came to medical attention when one family member presented following a fall. Apart from one family member who was taking a benzodiazepine for involuntary movements, no other affected family members had sought medical attention. Members of this family live on several resource-limited Caribbean islands. Care of the chronically ill is often the responsibility of the family, and access to specialty care is difficult to obtain, or is unavailable. Computed tomography scan of one patient's brain revealed severe caudate atrophy and moderate generalized cortical atrophy. Genetic diagnosis of HD was obtained. RESULTS: Through family recollection and by direct observation we identified four generations of individuals affected with HD. Outreach programs and collaborations helped to provide medical imaging and genetic diagnosis. Additionally these efforts helped with patient and family support, education, and genetic counseling to many members of this family. CONCLUSIONS: Affected members of this family have limited healthcare access, and rely heavily on family support for care. Genetic and clinical diagnosis of these patients was impeded by lack of resources and lack of access to specialty care. Importantly, obtaining a definitive diagnosis has had a positive impact for this family by facilitating genetic counseling, education, community outreach, and dispelling myths regarding this hereditary disease and its progression.
