Patients with Gaucher disease type 1 may experience a complication involving the lower portion of the spinal cord, known as cauda equina syndrome, which causes long-term spine instability and neurodeficits if not treated early and with caution.
Turkish researchers reported a rare case of such a complication in the study, “Cauda equina syndrome in a patient diagnosed with type 1 Gaucher disease: a rare case,” published in the journal Child’s Nervous System.
Gaucher disease is a genetic condition caused by a deficiency in the lysosomal enzyme glucocerebrosidase, leading to the buildup of a fat molecule inside certain organs. In the type 1 form of the disease (the most common), patients often experience an enlarged spleen and liver, low platelet numbers, anemia, and bone lesions. But on rare occasions, vertebrae may also be affected, leading to neurological symptoms.
The patient described in this study was an 18-year-old woman who had been diagnosed with type 1 Gaucher disease by age 14 after experiencing recurrent bone fractures, reduced platelet levels, and an enlarged spleen and liver.
The patient had been receiving enzyme replacement therapy with Cerezyme (imiglucerase, by Sanofi Genzyme) since her diagnosis, but eventually started to experience progressive leg numbness, weakness, and urinary incontinence. She also complained of low back pain, which was only partially reduced with analgesics.
A neurological examination revealed significant muscle weakness and limited movement in the upper extremities, as well as impaired sensibility in the lower extremities. She also had reduced tendon responsiveness and lack of sensation of the saddle area, including the buttocks and inner thighs.
The clinical team conducted spinal magnetic resonance imaging (MRI) to better understand what could be causing these neurological manifestations. They found a mass compressing the spine in the lumbosacral region (the lower portion of the spine), which was also causing bone destruction.
A more detailed examination by computed tomography (CT) imaging showed Gaucher disease-related bone marrow involvement in all vertebrae.
Gaucher disease type 1 is not commonly associated with direct central nervous system involvement. Still, neurological symptoms can occur mainly because of spinal cord and nerve compression triggered by vertebral fractures and collapse.
“Vertebral fractures are believed to occur as a result of bone fragility caused by the accumulation of fat cells (Gaucher cells) in the bone marrow,” researchers said.
Because the mass was in the lower portion of the spine, a region called cauda equina, this condition is known as cauda equina syndrome. The patient underwent decompression surgery, commonly used to relieve pressure on the spinal cord and nerves, and the mass was removed.
She was discharged five days after the surgery; no additional treatments or spine stabilization was necessary. Follow-up evaluation at six months showed significant improvement, including better muscle tone, sensibility, and movement of the lower extremities and anal region.
No symptoms of recurrence were observed in the 18 months after the surgery.
“Although [lower spine] involvement is rare in Gaucher disease, it should not be overlooked in the differential diagnosis of sacral masses,” researchers said. “Patients with neurodeficits resulting from spinal compression associated with Gaucher cell-induced lesions should be treated with maximum safe resection.”
