ABSTRACT
INTRODUCTION: Patients with encephalitis following a viral infection are often thought to have a para infectious, inflammatory, or autoimmune cause for their presentation. These diagnoses usually result in treatments with immunosuppressant therapies which can have side effects. However, there is an increasing body of evidence demonstrating that patients can have a direct genetic cause mediating viral infection triggered encephalitis, where inflammation is a secondary response. These patients may benefit not from immunosuppressive therapies, but from protection from infection through dedicated immunisation programs and early antiviral therapies at times of infection. METHODS: A small case series of paediatric neurology patients (n = 2) from a single institution with infection induced encephalitis and an underlying genetic cause, is presented. Patients with a confirmed genetic cause of infection induced encephalitis were identified and consented by their treating neurologist for inclusion in this case series. Ethics approval was gained for this case series and review of the surrounding literature. CONCLUSION: A case of both DBR1 and NUP214 genetic changes resulting in infection induced encephalitis is presented. This case series raises awareness of this rare group of disorders and provides clues to their identification. Features to prompt clinician consideration of such genetic conditions are also highlighted. Although rare, identification of these patients is important due to implications on treatment, prognosis, and family planning.
Subject(s)
Nuclear Pore Complex Proteins , Humans , Female , Male , Nuclear Pore Complex Proteins/genetics , Child , Infectious Encephalitis/genetics , Infectious Encephalitis/etiology , Child, Preschool , Encephalitis/genetics , Encephalitis/etiology , InfantABSTRACT
Perineural spread of malignant melanoma is rare but increasingly recognized as a potential mechanism of metastasis particularly in desmoplastic melanoma, which has neurotropic characteristics. In the head and neck, this form of melanoma spread affecting cranial nerves has been described; however, to date, only one case of melanoma spreading to the brachial plexus has ever been reported. We present a case of cutaneous melanoma recurrence below the right jaw with perineural spread along the C3 and C4 nerves into the spinal cord, something which has not been documented previously in the literature.
ABSTRACT
Herniation of the anterior lens capsule is a rare abnormality in which the capsule bulges forward in the pupillary area. This herniation can be mistaken for an anterior lenticonus where both the capsule and the cortex bulge forward. The exact pathology behind this finding is still unclear. We report the clinical, ultrasound biomicroscopy (UBM) and histopathological findings of a case of herniation of the anterior lens capsule. UBM helped to differentiate this entity from anterior lenticonus. Light microscopy revealed capsular splitting suggestive of capsular delamination and collection of fluid (aqueous) in the area of herniation giving it a characteristic appearance.
