Objective:

Scleromyxedema is a rare disorder, and Dermato-neuro syndrome (DNS) is extremely rare and difficult to characterize clinically. Early detection and appropriate therapy are crucial for optimal outcomes. In this case, diagnosing DNS was challenging due to the course of symptoms, clinical signs, and patient demographics.

Background:

NA

Design/Methods:

Retrospective case report.

Results:

An 85-year- old female with known Scleromyxedema for 4 years was on intravenous immunoglobulin (IVIG) but recently stopped due to adverse reactions. Two months later, she presented with 4 weeks of worsening word-finding difficulty, impaired memory, and gait disturbance. She had a similar presentation 1 week prior but was discharged the next day without a specific diagnosis. She had expressive aphasia, multifocal paroxysmal myoclonus, diffuse hyperreflexia, and a startle reflex. Initial routine labs, CSF, EEG, and brain MRI, were unremarkable.  When clinical suspicion of DNS rose 14 days after initial presentation, IV Methylprednisolone for 3 days, followed by 2g/kg of IVIG for 5 days, was given with no clinical response. Unfortunately, she developed seizures, atrial fibrillation, and unexplained fever. In the Medical intensive care unit, continuous EEG showed frequent occipital focal seizures bilaterally. Despite aggressive treatment with IVIG, steroids, and antiepileptics, the patient's clinical status continued to deteriorate. After a lengthy discussion with her family, her care was transitioned to compassionate care.

Conclusions:

To our knowledge, DNS typically progresses rapidly, with symptoms such as speech changes, fever, seizures, and coma. In this case, hyperkinetic movement disorder, hyperreflexia, and startle reflex were observed, which are not commonly reported in the literature. Furthermore, our case has uniquely progressed over 6 weeks. This case shows the importance of high suspicion for DNS in patients with scleromyxedema, with special attention among older populations, and early initiation of the appropriate treatment. Although it has a high mortality rate, many reported cases responded well to immunosuppression.