Not Just Cerebral Palsy: Diastrophic Dysplasia Presenting as Spastic Quadriparesis
A
4-year-old male child presented with a history of delayed development of motor milestones and progressive stiffness of all 4 limbs since infancy. He developed scoliosis by 2 years of age and had not attained bowel or bladder control. Three generation family history was not contributory. Birth history was uneventful. On examination, he was found to have proportionate short stature, normal upper segment-lower segment ratio, normal head circumference, hypertelorism, depressed nasal bridge, bilateral equinovarus deformity, and left-sided scoliosis of 30 (Figure 1). His higher mental functions were normal, had features suggestive of spastic quadriparesishypertonia, decreased power, and exaggerated deep tendon reflexes in all 4 limbs and extensor plantar. Initially, he was considered to have cerebral palsy; however, meticulous examination revealed absence of trapezius reflex (elicited by tap on the lateral attachment of the trapezius to the coracoid process causing shoulder elevation-mediated by accessory nerve XI, C3, C4) and presence of paradoxical breathing (inward movement of chest during inspiration and outward movement during
expiration caused by diaphragmatic weakness secondary to phrenic nerve involvement - C3, C4, C5) (Video; available at www.jpeds.com). He had intact pain and temperature sensation over all dermatomes, patent anal, and urinary sphincters. Hence, upper motor neuron lesion secondary to cervical cord pathology at C3/C4 level was suspected. Magnetic resonance imaging spine revealed kyphotic deformity at C3 level (80 kyphosis) with cord compression and spinal canal narrowing (Figure 2). The child was operated with decompression of cord and reconstruction of spine with fibula graft with combined anterioposterior fusion. He receives regular physiotherapy, and he has a decrease in spasticity and improvement of diaphragmatic weakness. A diagnosis of diastrophic dysplasia was made because of the constellation of the above findings. Diastrophic dysplasia is a rare autosomal recessive type of skeletal dysplasia. Typical clinical and radiologic findings include dwarfism, multiple joint contractures, and early degeneration of the joints, knee joint instability, spinal deformities such as scoliosis,
Figure 1. A, Left-sided scoliosis. B, Bilateral club foot. J Pediatr 2014;164:1493-4. 0022-3476/$ - see front matter. Copyright ª 2014 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2014.02.034
1493
THE JOURNAL OF PEDIATRICS
www.jpeds.com
Vol. 164, No. 6 Cervical kyphosis causing progressive spastic quadriparesis is a rare manifestation in diastrophic dysplasia and other related syndromes. Few patients have been reported to have been successfully treated by surgery.3 One should consider skeletal dysplasia as one of the differential diagnoses of spastic quadriparesis. These patients warrant a thorough clinical and radiologic examination before getting labelled as having cerebral palsy so that early diagnosis is made and long standing severe neurologic deficits can be prevented. n
Arunkumar Anbazhagan, MD Asha Benakappa, MD, DCH, DNB, FIAP
Figure 2. Magnetic resonance imaging sagittal section showing cervical kyphosis and cord impingement at C3.
cervical kyphosis, and exaggerated lumbar lordosis, club feet, deformed ear pinnae, cleft palate, hitchhiker thumb, symphalangism, trachea, and bronchomalacia.1 The disease is caused by mutations in Diastrophic Dysplasia Sulfate Transporter gene causing abnormal growth of cartilaginous structures and multiple skeletal abnormalities as the child grows.2
1494
Department of Pediatrics Bangalore Medical College and Research Institute Bangalore, India
References 1. Poussa M, Merikanto J, Ryoppy S, Marttinen E, Kaitila I. The spine in diastrophic dysplasia. Spine 1991;16:881-7. 2. H€astbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994;78:1073-87. 3. Remes V, Marttinen E, Poussa M, Kaitila I, Peltonen J. Cervical kyphosis in diastrophic dysplasia. Spine 1999;24:1990-5.
Anbazhagan and Benakappa
A
4-year-old male child presented with a history of delayed development of motor milestones and progressive stiffness of all 4 limbs since infancy. He developed scoliosis by 2 years of age and had not attained bowel or bladder control. Three generation family history was not contributory. Birth history was uneventful. On examination, he was found to have proportionate short stature, normal upper segment-lower segment ratio, normal head circumference, hypertelorism, depressed nasal bridge, bilateral equinovarus deformity, and left-sided scoliosis of 30 (Figure 1). His higher mental functions were normal, had features suggestive of spastic quadriparesishypertonia, decreased power, and exaggerated deep tendon reflexes in all 4 limbs and extensor plantar. Initially, he was considered to have cerebral palsy; however, meticulous examination revealed absence of trapezius reflex (elicited by tap on the lateral attachment of the trapezius to the coracoid process causing shoulder elevation-mediated by accessory nerve XI, C3, C4) and presence of paradoxical breathing (inward movement of chest during inspiration and outward movement during
expiration caused by diaphragmatic weakness secondary to phrenic nerve involvement - C3, C4, C5) (Video; available at www.jpeds.com). He had intact pain and temperature sensation over all dermatomes, patent anal, and urinary sphincters. Hence, upper motor neuron lesion secondary to cervical cord pathology at C3/C4 level was suspected. Magnetic resonance imaging spine revealed kyphotic deformity at C3 level (80 kyphosis) with cord compression and spinal canal narrowing (Figure 2). The child was operated with decompression of cord and reconstruction of spine with fibula graft with combined anterioposterior fusion. He receives regular physiotherapy, and he has a decrease in spasticity and improvement of diaphragmatic weakness. A diagnosis of diastrophic dysplasia was made because of the constellation of the above findings. Diastrophic dysplasia is a rare autosomal recessive type of skeletal dysplasia. Typical clinical and radiologic findings include dwarfism, multiple joint contractures, and early degeneration of the joints, knee joint instability, spinal deformities such as scoliosis,
Figure 1. A, Left-sided scoliosis. B, Bilateral club foot. J Pediatr 2014;164:1493-4. 0022-3476/$ - see front matter. Copyright ª 2014 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2014.02.034
1493
THE JOURNAL OF PEDIATRICS
www.jpeds.com
Vol. 164, No. 6 Cervical kyphosis causing progressive spastic quadriparesis is a rare manifestation in diastrophic dysplasia and other related syndromes. Few patients have been reported to have been successfully treated by surgery.3 One should consider skeletal dysplasia as one of the differential diagnoses of spastic quadriparesis. These patients warrant a thorough clinical and radiologic examination before getting labelled as having cerebral palsy so that early diagnosis is made and long standing severe neurologic deficits can be prevented. n
Arunkumar Anbazhagan, MD Asha Benakappa, MD, DCH, DNB, FIAP
Figure 2. Magnetic resonance imaging sagittal section showing cervical kyphosis and cord impingement at C3.
cervical kyphosis, and exaggerated lumbar lordosis, club feet, deformed ear pinnae, cleft palate, hitchhiker thumb, symphalangism, trachea, and bronchomalacia.1 The disease is caused by mutations in Diastrophic Dysplasia Sulfate Transporter gene causing abnormal growth of cartilaginous structures and multiple skeletal abnormalities as the child grows.2
1494
Department of Pediatrics Bangalore Medical College and Research Institute Bangalore, India
References 1. Poussa M, Merikanto J, Ryoppy S, Marttinen E, Kaitila I. The spine in diastrophic dysplasia. Spine 1991;16:881-7. 2. H€astbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994;78:1073-87. 3. Remes V, Marttinen E, Poussa M, Kaitila I, Peltonen J. Cervical kyphosis in diastrophic dysplasia. Spine 1999;24:1990-5.
Anbazhagan and Benakappa
![[Unilateral spastic cerebral palsy (hemiparesis)].](/assets/img/hold.png)
