A CASE OF HEREDITARY SPASTIC PARAPLEGIA- A NEUROLOGICAL CONUNDRUM

Abstract

Introduction

Hereditary Spastic Paraplegia is a group of rare neurological degenerative disorders with a broad pattern of inheritance and not limited to a specific age group. Around 82 different loci have been identified in the causation of this disease. It may present with weakness limited to lower limbs or may be a complex disease with extra neurological manifestations.

Case Description

We report a case of a 44-year-old Pakistani male with progressive spasticity and lower limb weakness of 3 years duration with upper motor neuron signs limited to the lower limb. His Baseline investigations were within normal range and his metabolic profile as well as inflammatory markers were normal. His MRI showed Non-specific peri-ventricular intensities on T2W and FLAIR sequences with mild axonal neuropathy on Nerve Conduction Studies. EMG was normal. He was diagnosed with Type 2, Pure Hereditary Spastic Paraplegia after the exclusion of all other possible differentials. He was started on muscle relaxants, statins, and pregabalin.

Discussion

Our diagnosis was supported by previous literature on the disease and the treatment we initiated was also evidence-based. Due to lack of accessibility to genetic testing in Pakistan, our case highlights the importance of analyzing in detail, a patient’s clinical examination and history as well as picking subtle MRI findings.

Key Words

Case Report, Hereditary Spastic Paraplegia, SPG, Inherited