Nuha F. Syed, MS
Medical Student
TouroCOM Harlem
New York, New York, United States
Jessica Efa, MD
Resident
South Brooklyn Health
Brooklyn, New York, United States
Alex Stepensky, MD
Attending Physician
South Brooklyn Health NYC H+H
Brooklyn, New York, United States
Nickolas Muller, IV, BA
Student physician
Touro College of Osteopathic Medicine
Commack, New York, United States
Antonella Saverimuttu, BS
Medical Student
NYITCOM
Staten Island, New York, United States
Hereditary Spastic Paraplegia is a neurodegenerative disorder marked by progressive spasticity, weakness, and cognitive decline. This case report describes a 27-year-old Haitian wheelchair bound woman, accompanied by her father, presenting to a U.S. clinic with suspected HSP. Since age 17, she has experienced progressive mobility impairment, spasticity in all limbs, and cognitive regression, with her current mental age estimated at 11. Her father reports prolonged lack of adequate healthcare access in Haiti and describes additional symptoms, including episodic eye pain, headaches, insomnia, and decreased appetite. Her sister, previously diagnosed with an SPG11 mutation, displays similar neurodegenerative symptoms, while her parents and older brother tested negative. Physical examination revealed spasticity, hyperreflexia (3+ in all limbs), and an inconclusive Babinski response. Due to her uninsured status, her condition was undertreated, until she presented to our free health clinic. The plan included genetic confirmation of the SPG11 mutation, neurology, and PM&R.
Discussions:
This case highlights the medical challenges in HSP, especially for patients with limited healthcare access. The SPG11 mutation encodes the protein spatacsin. This mutation leads to axonal degeneration of motor neurons, resulting in muscle stiffness, weakness, and spasticity. Although the mutation follows an autosomal recessive pattern, both parents tested negative for the disease, suggesting the presence of de novo mutations and a more complex genetic mechanism. Management is primarily supportive, like physical therapy and medications. The patient also encountered obstacles like lack of healthcare resources in her home country, visa challenges, and is uninsured. We highlight the need for policies that improve healthcare access for vulnerable populations, particularly immigrants, ensuring patients with neurodegenerative disorders receive timely management.
Conclusions:
This case underscores the need for healthcare policies that improve access to diagnostic and supportive care for uninsured and immigrant patients with rare neurodegenerative disorders.
