Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-old male who presented to the emergency department with neck pain, headache and vomiting for 2 months; MRI showed multiple heterogeneous intracranial masses. Neurosurgery performed a suboccipital craniotomy, partially resected the cerebellar mass, and placed a parietal to frontal shunt catheter. Biopsy results from the cerebellar mass demonstrated cerebellar tissue involved by a diffuse proliferation of foamy histiocytes and spindle cells admixed with prominent lymphoplasmacytic infiltrate and positive for CD68, CD163, Factor XIIIa and Fascin. PET scan showed hypermetabolic uptake within the medullary portions of the diffuse abnormal lesions of the distal femurs, tibias, and fibulas, and cardiac MRI was nonsignificant. The patient was started on vemurafenib and continued to show improvement in a 3-month outpatient follow-up.
While it is primarily thought of as a respiratory illness, COVID-19 is now recognized as a multi-organ disease that can present with a wide range of clinical manifestations. Particularly in patients with severe respiratory illness, neurological manifestations ranging from headaches, and loss of smell to strokes have been associated with the virus. In the setting of resolving respiratory illness, it is important to consider autoimmune encephalitis (AE) in the instance of new-onset neurological manifestations. The typical patient presentation includes altered mental status, fever, seizures, and/or focal neurological deficits. These neurological manifestations make it crucial to consider either underlying COVID-19 infection or post COVID-19 autoimmunity so as not to delay the administration of the appropriate treatment. Herein, we present the case of an 88-year-old female with new-onset right leg weakness, and dysarthria, that progressively developed to altered mental status months after having respiratory symptoms of COVID-19. According to the criteria of AE diagnosis, the patient's clinical course and work-up findings proved the diagnosis.
Colpocephaly, a congenital anomaly in the ventricles, is usually discovered early in infancy and rarely during adulthood. Partial or complete agenesis of the corpus callosum or Chiari malformations (developmental arrest of white matter formation in early fetal development) can lead to abnormal asymmetrical ventricular enlargement. Minimal literature about colpocephaly is available for clinicians, making diagnosis and treatment very challenging. Colpocephaly in adults is an infrequent condition, mostly found as an incidental finding with no neurological or cognitive impairment. Symptoms usually represent the affected lobe in the brain as our patient's visual hallucination may be attributed to the lesioned occipital horn. Differentiating from normal pressure hydrocephalus, representing new-onset dementia, can help avoid unnecessary procedures. Neurological and psychiatric consultation should be practiced to exclude other causes of neurological and cognitive impairment. While there is no definitive treatment for this condition, seizure prophylaxis has been helpful. Cognitive behavioral therapy, psychotherapy, and social skills training are recommended in some literature. Typical and atypical antipsychotics can control symptoms with uncertain efficacy.
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