- Email: [email protected]
Acrodysostosis and Spinal Canal Involvement
Peer-Review Short Reports
Acrodysostosis and Spinal Canal Involvement Georges Abi Lahoud1, Nohra Chalouhi2, Pascal Jabbour2
Key words Acrodysostosis - Spinal cord compression - Spinal stenosis -
- BACKGROUND:
Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia, and frequently mental retardation. Only two adult cases of acrodysostosis have been reported to have neurological symptoms.
Abbreviations and Acronyms MRI: Magnetic resonance imaging
- CASE
From the 1Department of Neurosurgery, Division of Spine Surgery, Paris Descartes University and Sainte-Anne University Hospital, Paris, France; 2Department of Neurosurgery, Thomas Jefferson University and Jefferson Hospital for Neuroscience, Philadelphia, Pennsylvania, USA
- CONCLUSIONS:
To whom correspondence should be addressed: Pascal M. Jabbour, M.D. [E-mail: [email protected]]
DESCRIPTION: We report one additional adult case that presented with signs of spinal cord compression from spinal stenosis, and make the first histologic description in the literature of the bony anomalies seen in acrodysostosis. The patient had a T3 to T5 laminectomy and experienced a complete recovery. Special attention should be given to these patients to detect signs of spinal stenosis, as early decompression can lead to neurological recovery.
Citation: World Neurosurg. (2013). http://dx.doi.org/10.1016/j.wneu.2013.03.071 Journal homepage: www.WORLDNEUROSURGERY.org Available online: www.sciencedirect.com 1878-8750/$ - see front matter ª 2013 Elsevier Inc. All rights reserved.
INTRODUCTION Acrodysostosis is a rare syndrome encompassing signs of peripheral dysostosis (abnormally short and malformed bones of hands and feet), short stature, nasal hypoplasia, and frequently mental retardation. Skeletal abnormalities of the skull, mandible, and spine are also common features of the condition (5, 7). Two adult cases of acrodysostosis with neurological involvement have been described in the literature (3, 8). We describe the case of an adult patient with a known acrodysostosis who presented with left spastic monoparesis. A combination of clinical, radiologic, and electrophysiologic findings allowed the localization of the symptomatic medullary compression in an overall extensive cervical, thoracic, and lumbar canal stenosis. CASE REPORT History and Examination A 22-year-old man, known to have acrodysostosis, complained of increasing numbness of the left lower extremity, followed 3 weeks later by proximal weakness leading to multiple falls and necessitating
the use of crutches. No notion of fall or trauma was noted as a causing factor. His physician ordered a lumbar magnetic resonance imaging (MRI) scan that showed a major lumbar canal stenosis, both congenital and acquired, mainly at the L3-L4 level. The same day, the patient was addressed to us by his physician with the diagnosis of decompensated lumbar canal stenosis (Figure 1). Clinical examination revealed a left 4/5 proximal lower limb monoparesis. There was a T6 left sensitive level, generalized hyperreflexia of lower extremities, left Babinski sign, and epileptoid trepidation. The patient denied any cruralgia, sciatalgia, and bowel or bladder dysfunction. No back pain was elicited when palpating the spine. We completed the radiologic examination with a complete spine MRI, which showed additional extensive cervical and thoracic spinal canal stenosis (Figure 2A). The stenosis was mainly congenital, aggravated in T4-T5 by a hypertrophied ligamentum flavum (Figure 2B). Diffuse increased signal on T2-weighted MRI was also found in the spinal cord at the level of T4-T5 (Figure 2C). Upper extremity somatosensory evoked potentials were normal. Lower extremity somatosensory evoked potential (done by stimulating the posterior tibial nerve at the ankle, and collecting information at popliteous fold, T12 spinous process, and median parietal scalp) showed alteration of
WORLD NEUROSURGERY - (-): ---, MONTH 2013
signal conduction at a level situated between T1 and T12. Treatment The patient was started on intravenous corticosteroids and surgery was performed 2 weeks later. The decision was made to perform a T3 to T5 laminectomy, after clinical, radiologic, and electrophysiologic findings oriented toward the affected level. Bone was sclerous and hard to remove. High-speed drill was used, and decompression was completed by removing a thickened ligamentum flavum. Bone was sent for histopathologic examination. Post-Treatment Course Sensory-motor recovery was seen on the fourth day after surgery. The patient was discharged on the seventh postoperative day with daily physical therapy prescription. Postoperative MRI showed optimal spinal cord decompression (Figure 3). Histologic examination concluded to the presence of dystrophic bone, with cortical thickening and regular architecture. Lamellae of spongious bone were also thickened by apposition of bone with normal architecture (Figure 4). One month after surgery, he was able to walk normally without crutches. Examination showed complete recovery of the motor and sensory deficits with persistence of hyperreflexia and left Babinski sign.
www.WORLDNEUROSURGERY.org
1.E1
PEER-REVIEW SHORT REPORTS GEORGES ABI LAHOUD ET AL.
ACRODYSOSTOSIS AND SPINAL CANAL INVOLVEMENT
Figure 1. (A) Sagittal T2-weighted magnetic resonance imaging showing extensive lumbar stenosis. (B) Axial T2-weighted magnetic resonance imaging showing the congenital nature of lumbar stenosis.
The patient was instructed seek medical care if he experiences new symptoms of spinal cord compression.
DISCUSSION Acrodysostosis is a rare disorder described for the first time by Maroteaux and
Figure 2. (A) Sagittal T2-weighted magnetic resonance imaging (MRI) showing the extensive cervical and thoracic spinal canal stenosis. (B) Axial T2-weighted MRI showing the stenosis that is mainly congenital, aggravated in T4-T5, by a hypertrophied ligamentum flavum. (C) Sagittal T2-weighted MRI showing diffuse increased signal at the T4-T5 level.
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www.SCIENCEDIRECT.com
Figure 3. Postoperative T2-weighted magnetic resonance imaging.
Malamut (5) in 1968. Familial cases with autosomal dominant transmission and sporadic cases have been reported (4, 9). Taillet-Bellemère and Maroteaux (10) reported a case of acrodysostosis in a sister and brother born to normal parents, and suggested that genetic mechanisms, such as recessive autosomal transmission, unstable mutation, or germ cell mosaicism, could be involved. It was Butler et al. (2) who described the characteristic pattern of acrodysostosis, which includes signs of peripheral dysostosis, short stature, nasal hypoplasia, and mental retardation. The clinical features that distinguish acrodysostosis from pseudohypoparathyroidism or pseudopseudohypoparathyroidism include a characteristic facial appearance, more generalized osseous abnormalities, and the absence of endocrine abnormalities (1, 6). Brachydactyly is a useful feature for distinguishing acrodysostosis from pseudohypoparathyroidism (Albright’s hereditary osteodystrophy). Spinal stenosis is common in acrodysostosis, and characteristic features include decreased interpediculate distance in the lower spine (2, 4). Our patient did not have any history of spinal complaints and was physically active before symptom onset. He was referred to our institution with a diagnosis of lumbar spinal stenosis. On MRI, the posterior arch was hypertrophied throughout the thoracic and lumbar spine,
WORLD NEUROSURGERY, http://dx.doi.org/10.1016/j.wneu.2013.03.071
PEER-REVIEW SHORT REPORTS GEORGES ABI LAHOUD ET AL.
ACRODYSOSTOSIS AND SPINAL CANAL INVOLVEMENT
features. Spinal stenosis is a symptom of acrodysostosis, as it is present anatomically in early childhood. It may become seriously symptomatic. Early recognition and appropriate surgical intervention are necessary to avoid permanent neurological deficits. REFERENCES 1. Ablow RC, Hsia YE, Brandt IK: Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. AJR Am J Roentgenol 128:95-99, 1977. 2. Butler MG, Rames LJ, Wadlington WB: Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. Am J Med Genet 30:971-980, 1988. 3. Hamanishi C, Nagata Y, Nagao Y, Sohen S, Tanaka S: Acrodysostosis associated with spinal canal stenosis. Spine (Phila Pa 1976) 18:1922-1925, 1993. 4. Hernandez RM, Miranda A, Kofman-Alfaro S: Acrodysostosis in two generations: an autosomal dominant syndrome. Clin Genet 39:376-382, 1991. 5. Maroteaux P, Malamut G: Acrodysostosis [in French]. Presse Med 76:2189-2192, 1968. 6. Reiter S: Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. Pediatr Radiol 7:53-55, 1978.
Figure 4. (A, B) Histology: Osteophytes. (CeF) Histologic examination showing Pagetoı¨d anomalies of bony appositions.
and lumbar pedicles were short and hypertrophied, decreasing the anteroposterior and interpediculate width of the canal. Careful history and physical examination showed that the patient suffered from spinal cord compression, and imaging and electrophysiologic examinations helped localize the site of the pathology. The patient underwent rapid decompression of the spinal cord, which ensured optimal neurological recovery. We believe that the risk of spinal stenosis is often underappreciated in patients with acrodysostosis. It is necessary to regularly follow these patients for symptoms of spinal stenosis. Symptomatic patients should be further evaluated with MRI of the spine to detect spinal stenosis. In the presence of extensive narrowing of the spinal canal, as was the case in our
patient, electrophysiologic examinations could be helpful in orienting toward the level of the pathology. We make the first histologic description in the literature of the bony anomalies seen in acrodysostosis. We found that bone is dystrophic, with cortical thickening and regular architecture, and that lamellae of spongious bone are thickened also by apposition of bone, whose architecture is normal. It remains to be seen what factors could aggravate a congenital spinal stenosis in a previously asymptomatic adult patient with acrodysostosis and lead to spinal cord compression.
7. Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, Summitt RL: Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child 121:195-203, 1971. 8. Sezer N, Sutbeyaz ST, Koseoglu F, Aras M, Akin C: Adult case of acrodysostosis with severe neurologic involvement. J Back Musculoskelet Rehabil 22:125-129, 2009. 9. Steiner RD, Pagon RA: Autosomal dominant transmission of acrodysostosis. Clin Dysmorphol 1:201-206, 1992. 10. Taillet-Bellemère C, Maroteaux P: Acrodysostosis in a sister and brother born to normal parents [in French]. Ann Pediatr (Paris) 38:31-36, 1991.
Conflict of interest statement: The authors declare that the article content was composed in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Received 18 February 2013; accepted 26 March 2013 Citation: World Neurosurg. (2013). http://dx.doi.org/10.1016/j.wneu.2013.03.071 Journal homepage: www.WORLDNEUROSURGERY.org
CONCLUSIONS
Available online: www.sciencedirect.com
Acrodysostosis is a rare congenital malformation syndrome with characteristic
1878-8750/$ - see front matter ª 2013 Elsevier Inc. All rights reserved.
WORLD NEUROSURGERY - (-): ---, MONTH 2013
www.WORLDNEUROSURGERY.org
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Acrodysostosis and Spinal Canal Involvement Georges Abi Lahoud1, Nohra Chalouhi2, Pascal Jabbour2
Key words Acrodysostosis - Spinal cord compression - Spinal stenosis -
- BACKGROUND:
Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia, and frequently mental retardation. Only two adult cases of acrodysostosis have been reported to have neurological symptoms.
Abbreviations and Acronyms MRI: Magnetic resonance imaging
- CASE
From the 1Department of Neurosurgery, Division of Spine Surgery, Paris Descartes University and Sainte-Anne University Hospital, Paris, France; 2Department of Neurosurgery, Thomas Jefferson University and Jefferson Hospital for Neuroscience, Philadelphia, Pennsylvania, USA
- CONCLUSIONS:
To whom correspondence should be addressed: Pascal M. Jabbour, M.D. [E-mail: [email protected]]
DESCRIPTION: We report one additional adult case that presented with signs of spinal cord compression from spinal stenosis, and make the first histologic description in the literature of the bony anomalies seen in acrodysostosis. The patient had a T3 to T5 laminectomy and experienced a complete recovery. Special attention should be given to these patients to detect signs of spinal stenosis, as early decompression can lead to neurological recovery.
Citation: World Neurosurg. (2013). http://dx.doi.org/10.1016/j.wneu.2013.03.071 Journal homepage: www.WORLDNEUROSURGERY.org Available online: www.sciencedirect.com 1878-8750/$ - see front matter ª 2013 Elsevier Inc. All rights reserved.
INTRODUCTION Acrodysostosis is a rare syndrome encompassing signs of peripheral dysostosis (abnormally short and malformed bones of hands and feet), short stature, nasal hypoplasia, and frequently mental retardation. Skeletal abnormalities of the skull, mandible, and spine are also common features of the condition (5, 7). Two adult cases of acrodysostosis with neurological involvement have been described in the literature (3, 8). We describe the case of an adult patient with a known acrodysostosis who presented with left spastic monoparesis. A combination of clinical, radiologic, and electrophysiologic findings allowed the localization of the symptomatic medullary compression in an overall extensive cervical, thoracic, and lumbar canal stenosis. CASE REPORT History and Examination A 22-year-old man, known to have acrodysostosis, complained of increasing numbness of the left lower extremity, followed 3 weeks later by proximal weakness leading to multiple falls and necessitating
the use of crutches. No notion of fall or trauma was noted as a causing factor. His physician ordered a lumbar magnetic resonance imaging (MRI) scan that showed a major lumbar canal stenosis, both congenital and acquired, mainly at the L3-L4 level. The same day, the patient was addressed to us by his physician with the diagnosis of decompensated lumbar canal stenosis (Figure 1). Clinical examination revealed a left 4/5 proximal lower limb monoparesis. There was a T6 left sensitive level, generalized hyperreflexia of lower extremities, left Babinski sign, and epileptoid trepidation. The patient denied any cruralgia, sciatalgia, and bowel or bladder dysfunction. No back pain was elicited when palpating the spine. We completed the radiologic examination with a complete spine MRI, which showed additional extensive cervical and thoracic spinal canal stenosis (Figure 2A). The stenosis was mainly congenital, aggravated in T4-T5 by a hypertrophied ligamentum flavum (Figure 2B). Diffuse increased signal on T2-weighted MRI was also found in the spinal cord at the level of T4-T5 (Figure 2C). Upper extremity somatosensory evoked potentials were normal. Lower extremity somatosensory evoked potential (done by stimulating the posterior tibial nerve at the ankle, and collecting information at popliteous fold, T12 spinous process, and median parietal scalp) showed alteration of
WORLD NEUROSURGERY - (-): ---, MONTH 2013
signal conduction at a level situated between T1 and T12. Treatment The patient was started on intravenous corticosteroids and surgery was performed 2 weeks later. The decision was made to perform a T3 to T5 laminectomy, after clinical, radiologic, and electrophysiologic findings oriented toward the affected level. Bone was sclerous and hard to remove. High-speed drill was used, and decompression was completed by removing a thickened ligamentum flavum. Bone was sent for histopathologic examination. Post-Treatment Course Sensory-motor recovery was seen on the fourth day after surgery. The patient was discharged on the seventh postoperative day with daily physical therapy prescription. Postoperative MRI showed optimal spinal cord decompression (Figure 3). Histologic examination concluded to the presence of dystrophic bone, with cortical thickening and regular architecture. Lamellae of spongious bone were also thickened by apposition of bone with normal architecture (Figure 4). One month after surgery, he was able to walk normally without crutches. Examination showed complete recovery of the motor and sensory deficits with persistence of hyperreflexia and left Babinski sign.
www.WORLDNEUROSURGERY.org
1.E1
PEER-REVIEW SHORT REPORTS GEORGES ABI LAHOUD ET AL.
ACRODYSOSTOSIS AND SPINAL CANAL INVOLVEMENT
Figure 1. (A) Sagittal T2-weighted magnetic resonance imaging showing extensive lumbar stenosis. (B) Axial T2-weighted magnetic resonance imaging showing the congenital nature of lumbar stenosis.
The patient was instructed seek medical care if he experiences new symptoms of spinal cord compression.
DISCUSSION Acrodysostosis is a rare disorder described for the first time by Maroteaux and
Figure 2. (A) Sagittal T2-weighted magnetic resonance imaging (MRI) showing the extensive cervical and thoracic spinal canal stenosis. (B) Axial T2-weighted MRI showing the stenosis that is mainly congenital, aggravated in T4-T5, by a hypertrophied ligamentum flavum. (C) Sagittal T2-weighted MRI showing diffuse increased signal at the T4-T5 level.
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www.SCIENCEDIRECT.com
Figure 3. Postoperative T2-weighted magnetic resonance imaging.
Malamut (5) in 1968. Familial cases with autosomal dominant transmission and sporadic cases have been reported (4, 9). Taillet-Bellemère and Maroteaux (10) reported a case of acrodysostosis in a sister and brother born to normal parents, and suggested that genetic mechanisms, such as recessive autosomal transmission, unstable mutation, or germ cell mosaicism, could be involved. It was Butler et al. (2) who described the characteristic pattern of acrodysostosis, which includes signs of peripheral dysostosis, short stature, nasal hypoplasia, and mental retardation. The clinical features that distinguish acrodysostosis from pseudohypoparathyroidism or pseudopseudohypoparathyroidism include a characteristic facial appearance, more generalized osseous abnormalities, and the absence of endocrine abnormalities (1, 6). Brachydactyly is a useful feature for distinguishing acrodysostosis from pseudohypoparathyroidism (Albright’s hereditary osteodystrophy). Spinal stenosis is common in acrodysostosis, and characteristic features include decreased interpediculate distance in the lower spine (2, 4). Our patient did not have any history of spinal complaints and was physically active before symptom onset. He was referred to our institution with a diagnosis of lumbar spinal stenosis. On MRI, the posterior arch was hypertrophied throughout the thoracic and lumbar spine,
WORLD NEUROSURGERY, http://dx.doi.org/10.1016/j.wneu.2013.03.071
PEER-REVIEW SHORT REPORTS GEORGES ABI LAHOUD ET AL.
ACRODYSOSTOSIS AND SPINAL CANAL INVOLVEMENT
features. Spinal stenosis is a symptom of acrodysostosis, as it is present anatomically in early childhood. It may become seriously symptomatic. Early recognition and appropriate surgical intervention are necessary to avoid permanent neurological deficits. REFERENCES 1. Ablow RC, Hsia YE, Brandt IK: Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. AJR Am J Roentgenol 128:95-99, 1977. 2. Butler MG, Rames LJ, Wadlington WB: Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. Am J Med Genet 30:971-980, 1988. 3. Hamanishi C, Nagata Y, Nagao Y, Sohen S, Tanaka S: Acrodysostosis associated with spinal canal stenosis. Spine (Phila Pa 1976) 18:1922-1925, 1993. 4. Hernandez RM, Miranda A, Kofman-Alfaro S: Acrodysostosis in two generations: an autosomal dominant syndrome. Clin Genet 39:376-382, 1991. 5. Maroteaux P, Malamut G: Acrodysostosis [in French]. Presse Med 76:2189-2192, 1968. 6. Reiter S: Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. Pediatr Radiol 7:53-55, 1978.
Figure 4. (A, B) Histology: Osteophytes. (CeF) Histologic examination showing Pagetoı¨d anomalies of bony appositions.
and lumbar pedicles were short and hypertrophied, decreasing the anteroposterior and interpediculate width of the canal. Careful history and physical examination showed that the patient suffered from spinal cord compression, and imaging and electrophysiologic examinations helped localize the site of the pathology. The patient underwent rapid decompression of the spinal cord, which ensured optimal neurological recovery. We believe that the risk of spinal stenosis is often underappreciated in patients with acrodysostosis. It is necessary to regularly follow these patients for symptoms of spinal stenosis. Symptomatic patients should be further evaluated with MRI of the spine to detect spinal stenosis. In the presence of extensive narrowing of the spinal canal, as was the case in our
patient, electrophysiologic examinations could be helpful in orienting toward the level of the pathology. We make the first histologic description in the literature of the bony anomalies seen in acrodysostosis. We found that bone is dystrophic, with cortical thickening and regular architecture, and that lamellae of spongious bone are thickened also by apposition of bone, whose architecture is normal. It remains to be seen what factors could aggravate a congenital spinal stenosis in a previously asymptomatic adult patient with acrodysostosis and lead to spinal cord compression.
7. Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, Summitt RL: Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. Am J Dis Child 121:195-203, 1971. 8. Sezer N, Sutbeyaz ST, Koseoglu F, Aras M, Akin C: Adult case of acrodysostosis with severe neurologic involvement. J Back Musculoskelet Rehabil 22:125-129, 2009. 9. Steiner RD, Pagon RA: Autosomal dominant transmission of acrodysostosis. Clin Dysmorphol 1:201-206, 1992. 10. Taillet-Bellemère C, Maroteaux P: Acrodysostosis in a sister and brother born to normal parents [in French]. Ann Pediatr (Paris) 38:31-36, 1991.
Conflict of interest statement: The authors declare that the article content was composed in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Received 18 February 2013; accepted 26 March 2013 Citation: World Neurosurg. (2013). http://dx.doi.org/10.1016/j.wneu.2013.03.071 Journal homepage: www.WORLDNEUROSURGERY.org
CONCLUSIONS
Available online: www.sciencedirect.com
Acrodysostosis is a rare congenital malformation syndrome with characteristic
1878-8750/$ - see front matter ª 2013 Elsevier Inc. All rights reserved.
WORLD NEUROSURGERY - (-): ---, MONTH 2013
www.WORLDNEUROSURGERY.org
1.E3