Abstract
A 37-years-old NZ European man presented with a history of five years of progressive neurological deficits. These included dysarthria, hyper-salivation, vivid dreams, sleep disordered breathing, elevated hemi-diaphragm, left upper limb paraesthesia, syncopal episodes, lethargy, irregular bowels, difficulty passing urine, difficulty with temperature regulation, locked and painful jaw, anxiety, reduced sleep and headaches. On examination, he had mild dysarthria, wasted tongue with deviation to left and weakness on the left. The reflexes were brisk in the lower limbs with an up-going plantar response on the left. MRI revealed an ill-defined heterogeneous enhancement of the medulla extending to the right cerebellar peduncle. The patient underwent extensive work up and treatment trial with steroids with a working diagnosis of Neuro-sarcoidosis. He developed several further symptoms of tremors and further paraesthesia over the next three months. The patient had a sudden death and the final diagnosis of Alexander disease was revealed in his autopsy.
Retrospectively, the symptoms collectively clearly point to a neurological disorder, but during the five years of the disease progression, his complaints were approached individually as separate issues by multiple specialities. Due to this, despite the numerous red flags, these were unrecognised and the patient presented to Neurology with an advanced illness. This is a valuable case for learning and it reminds us how an eye for detail and careful observation in history and examination is critical, especially for patients presenting as a diagnostic challenge. This very fact is also what makes Neurology such a fascinating and intriguing specialty.
