Spinal stenosis frequent in children with multiple hereditary exostoses

Abstract

Purpose Children with multiple hereditary exostoses (MHE) have numerous osteochondromas, with the most prominent lesions typically over the appendicular skeleton. A recent report noted a high rate of intracanal lesions in this patient population and recommended preventative spinal screening with magnetic resonance imaging (MRI) or computed tomography (CT). We sought to evaluate the prevalence of spinal stenosis from intracanal osteochondromas at our pediatric orthopedic center in order to evaluate if routine screening is warranted. Methods All pediatric patients treated for MHE were retrospectively identified. Records were reviewed to determine demographics, previous orthopedic surgery, and indication and results of axial spine imaging (CT or MRI).Imaging studies were reviewed to evaluate the presence of intracanal and compressive spinal lesions. Results Between 1990 and 2011, axial imaging was performed in nine patients with MHE due to concerns of pain, weakness, and/or dizziness. These patients had moderate disease involvement, with a mean of 4.9 previous orthopedic surgeries to address skeletal osteochondromas. Two patients with MHE had cervical spinal stenosis secondary to intracanal osteochondromas. Both children successfully underwent spinal decompression. Thus, of our MHE population undergoing axial imaging, 22 % were noted to have intracanal lesions. Conclusions Our experience reveals a [20 % rate of compressive intracanal osteochondromas in MHE patients undergoing spinal imaging. These two patients represent 5 % of the MHE patients treated at our center. These lesions may be slow growing, and significant consequences can occur if not identified promptly. Thus, we confer that routine axial screening of the spinal canal may be warranted in these children.

Unusual case of hereditary multiple exostoses presenting with compressive myelopathy

“…Mutation of EXT genes that code for a protein involved in biosynthesis of heparan sulfate leads on to undifferentiated proliferation of chondrocytes in the metaphyseal region 6. Vertebral lesions have a predilection for the cervical spine (50–80%) followed by the thoracic (20–36%) and, rarely, the lumbar region 3. Extracanal lesions usually present as palpable masses, while intracanal lesions may present with gait disturbances due to compressive myelopathy 7.…”

“…Incidence of MHE involving multiple vertebral levels is uncommon with few cases reported 3 4. Compressive myelopathy is more commonly seen with solitary osteochondroma than in MHE 1 7.…”

“…Though there are reports of solitary osteochondroma causing spinal cord compression, involvement of the cord in patients with MHE is rare 3. MHE involving the spine at different levels is also not common 3 4. We report an unusual case of MHE with osteochondromas at D7, D11 and L5 vertebral levels presenting with compressive myelopathy.…”

“…Involvement of the spine is uncommon, with an incidence of 1–9% 1 2. Though there are reports of solitary osteochondroma causing spinal cord compression, involvement of the cord in patients with MHE is rare 3. MHE involving the spine at different levels is also not common 3 4.…”

Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria

“…La articulación de la rodilla está afectada en 94% de los casos y, en las EMH graves, se pueden producir escoliosis 9 o compresión de la médula espinal. 10 La paciente descrita presenta solo lesiones en huesos largos de las extremidades y, según la clasificación mostrada en la Tabla 1, 3 representa el tipo III A, debido a la limitación en la extensión del codo en el miembro superior izquierdo. La evaluación médica debe ser multidisciplinaria, en forma individual, seguir la evolución natural y la aparición de posibles complicaciones.…”