DEVELOPMENTAL MEDICINE A N D CHILD NEUROLOGY.
1975, 17
has been made and therefore there is no need to enquire further into the pathophysloiogy. On the contrary, very little seems to be known about these movements and further studies are essential. More use of film and polygraphic recordings may help the clinician, even though the final answer is likely to come from the biochemist. NEILGORDON Booth Hall Children’s Hospital, Blackley, Manchester M9 2AA. REFERENCES 1. Campbell, A. M. G., Garland, H. (1956) ‘Subacute myoclonic spinal neuritis.’ Journal of Neurology, Neurosurgery and Psychiatry, 19, 268. 2. Aron, A. M., Freeman, J. M., Carter, S. (1965) ‘The natural history of Sydenham’s chorea.’ American Journal of Medicine, 38, 83. 3. Bradshaw, J. P. P. (1954) ‘A study of myoclonus.’ Brain, 77, 138. 4. Halliday, A. M. (1967) ‘The electrophysiological study of myoclonus in man.’ British Journal of Hospital Medicine, 9, 428. 5. Marsden, C. D., Parkes, J . D. (1973) ‘Abnormal movement disorders.’ 6. Ingram, T. T. S . (1964) Paediatric Aspects of Cerebral Palsy. Edinburgh: Livingstone. 7 . Brandt, S., Carlsen, N., Glenting, P., Helweg-Larsen, J. (1974) ‘Encephalopathia myoclonica infantilis (Kinsbourne) and neuroblastoma in children. A report of three cases.’ Developmental Medicine and Child Neurology. 16, 286. 8. Kinsbourne, M. (1962) ‘Myoclonic encephalopathy of infants.’ Journal of Neurology, Neurosurgery and Psychiatry, 25, 271. 9. Pampiglione, G . , Maia, M. (1972) ‘Syndrome of rapid irregular movements of eyes and limbs in childhood.’ British Medical Journal, 1, 469. 10. Minoli, G., Tredici, G . (1974) ’Levodopa in treatment of myoclonus.’ Lancet, ii, 472. 1 1 . Bird, E. D., Mackay, A. V. P., Rayner, C. N., Iverson, L. L. (1973) ‘Reduced glutamic acid decarboxylase activity of post-mortem brain in Huntington’s chorea.’ Lancer, i, 1090. 12. Wooten, G . F., Eldridge, R.,, Axelrod, J., Stern, R. S. (1973) ‘Elevated plasma dopamine-p-hydroxylase activity in autosomal dominant torsion dystonia.’ New England Journal of Medicine, 288, 284.
CLEIDOCRANIAL DYSOSTOSIS IT is not often that a rare genetic disease can be traced back more than 30,000 years! But evidence of cleidocranial dysostosis has been found in the skull of a neanderthal man’. Individuals with the disorder living in more recent times were first described by MECKEL in 17602and later by MARIEand SAINTON in 1 89g3. Patients with cleidocranial dysostosis have an abnormal skull shape, delayed closure of the anterior fontanelle and cranial sutures, hypoplastic or absent clavicles, delayed eruption of the secondary dentition and abnormalities of the bony pelvis. With few exceptions, the clinical manifestations of cleidocranial dysostosis are confined to the osseous skeleton. The disorder is genetically transmitted as an autosomal dominant gene of high penetrance, and it has been variously estimated that between 16 and 39 per cent of cases are sporadic and are probably due to new dominant mutations. Mean paternal age has been shown to be higher for these sporadic cases and this strengthens the case for new dominant mutation4. The skull sutures and the anterior fontanelle remain open well beyond the expected time of closure; indeed the anterior fontanelle may still be open in old age. The skull has a wide biparietal diameter and is brachycephalic, giving, with the open sutures, the impression of a ‘hot-cross bun’. There are multiple wormian bones, calvarial thickening and sclerosis, deformity of the foramen magnum (occasionally associated with syringomyelia) and hypoplastic sinuses. Hypertelorism is a further result of the unusual skull shape. The clavicles are absent (10 per cent of cases) or hypoplastic. When this is unilateral it is the right clavicle which is almost invariably the abnormal one5, except in one patient who 522
ANNOTATIONS
had dextrocardia. On x-ray, two fragments of the clavicle are often seen and they sometimes form a pseudarthrosis. The sternal ends of the clavicles may be missing. The spinal abnormalities of cleidocranial dysostosis are less well known. Spina bifida of the cervical or upper thoracic spine is not uncommon; hemivertebrae may lead to scoliosis; 24 per cent of patients have lumbar spondylolysis; and posterior wedging of the vertebrae is seen. The thorax is 'cone-shaped'. and with the sloping shoulders this produces a characteristic posture. In the pelvis the pubic bones ossify late, often in the third decade. The diameter of the pelvic outlet is reduced. When the mother is afl'ected, fetuses w i t h cleidocranial dysostosisand hence a wide biparietal diameter-must sometimes (36 per cent) be delivered by caesarean section because of cephalopelvic disproportion. X-rays of the pelvis often show small iliac bones and wide 'see-through' sacro-iliac joints. The capital femoral epiphyses have a characteristic lateral notch and the femoral necks are wide. In the hands, the terminal phalanges are pointed, the second metacarpal is lengthened by an extra proximal epiphysis and many patients have brachymesophalangy and clinodactyly of the fifth finger. Although primary dentition is normal, permanent dentition is not. There is a delay in eruption of permanent teeth, even though they are all present i n the jaw. Sometimes there are increased numbers of unerupted permanent teeth. The delay in eruption may be very prolonged, and not uncommonly new teeth are cut under a denture. One edentulous lady cut a tooth at 78 years of age5. Most patients with cleidocranial dysostosis are below-average in height, though they are never excessively short. Deafness is an uncommon complicationn and may result from pressure on the auditory nerve in its bony canal. Intelligence is usually normal in cleidocranial dysostosis, though occasionally there may be intrupurtuni brain damage from cephalopelvic disproportion. In the neonatal period the condition is sometimes misdiagnosed as hydrocephalus. In spite of the absent or hypoplastic clavicles and the ability of these patients to bring their shoulders together anteriorly, there appears to be no significant loss of strength, nor a susceptibility to injury of the shoulder girdle, and work capacity is normal. Life span is not reduced. Pycnodysostosis is sometimes confused with cleidocranial dysostosisi. but is distinguishable by normal clavicles, osteosclerosis. bone fragility and autosomal recessive inheritance. Cleidocranial dysostosis is widespread among ethnic groups, examples having been reported in Caucasians, Hindus, Sudanese, American Negroes, Mestizos. Jews and Chinese. One of the more extensive pedigrees was described by JACKS ON^, the condition occurring in many descendants of a Chinese named Arnold who "embraced the Mohammadan religion and seven wives"'".
c. SIGGERS
DAVID
Child Health Department, Southampton General Hospital, Southampton, SO9 4XY. REFERENCES I. Greig, D. M. (1933) 'Neanderthaloid skull presenting features of cleidocranial dysostosis and other peculiarities.' Edinburgh Medical Juronal, 40, 491. 2. Meckel (1760), cited by Terry (1901) 'A skeleton with rudimentary clavicles, divided parietal bones and other anonlalous conditions.' .4uwricn,r Jorrrnul ofAnatutn.v, 1, 509.
523
DEVELOPMENTAL M E D I C I N E AND CHILD NEUROLOGY.
1975, 17
3. Marie, P., Sainton, P. (1898) ’Sur la dysostose cleidocranienne hereditaire.’ Revue Neurologique, 6,835. 4. Jones, K. L., Smith, D. W., Harvey, M. A. S., Hall, B. D., Quan, L. ‘Older paternal age and fresh gene mutation : data on additional disorders.’ Journal oJPediatrics, 86, 84. 5. Jarvis, J . L., Kcats, T. E. (1974) ‘Cleidocranial dysostosis. A review of 40 new cases.’ American Journal of Roentgenology, 121, 5 . 6. Gay, I. (1958) ‘A case of dysostosis cleidocranialis with mixed deafness.’ Journal ofLaryngology and Otology, 72, 915. 7. Thorns, J. (1958) ‘Cleidocranial dysostosis. Report of two cases with special characteristics.’ Acfa Radiologica. 50, 514. 8. Kalliala, E., Taskinen, P. J. (1962) ‘Cleidocranial dysostosis. Report of six typical cases and one atypical case.’ Oral Surgery, 15, 808. 9. Jackson, W. P. U. (1 951) ‘Osteo-dental dysplasia (cleido-cranial dysostosis). The “Arnold head”.’ Acta Medica Scandinavica, 139, 292. 10. McKusick, V. A. (1971) Mendelian Inheritance in Man, 3rd ed. Baltmore: Johns Hopkins.
THE CARE OF THE CEREBRAL-PALSIED CHILD AT SCHOOL IN their interesting chapter ‘The Paediatric RGle in the Care of the Child with Cerebral Palsy’’, BAXand MACKEITHcomment: “Our own feeling is that by the time the child has reached school age, he should no longer have to attend daily hour-long physical therapy sessions. Rather than interrupt the child’s schooling, physical management should take the form of physical education within an ordinary school curriculum, albeit of a specially planned and well thought-out nature”. Implicit in this comment is the supposition that these children will have gained maximum benefit from physiotherapy before starting school. In order to maintain a balance in the requirements of the cerebral-palsied child in school, one must be careful that the pendulum is not allowed to swing too far away from the physical treatment . . . “albeit of a specially planned and well thought-out nature”. Obviously, too, intensive physiotherapy will for short periods be required for children who have recently undergone orthopaedic surgery. The physical education programme must be based on several elements:-( 1) Good postural positions must be encouraged to enable the child to function to the best of his ability. To ‘function’ may mean sitting (on a chair or on the floor) in a desirable posture, or even lying in extension if necessary-and listening-as is required for certain lessons. Unless the postural position is comfortable and relaxed, the purpose of the lesson may be lost because of the child’s efforts to maintain balance or position. ‘Function’ may also mean the child being in the best postural position to perform a particular physical function, for example writing, typing or sewing. (2) Postural correction should be made when desirable in an effort to improve the quality of a function or postural position, to overcome a defect or to prevent the development of a contracture or deformity. Such corrections can be carried out in class while the child is functioning physically or intellectually, or both. All members of staff, whatever their professional discipline, are involved in this posturing of the children, and corrections are made automatically and continuously according to the child’s needs and the nature of the lesson. They give ‘personal’ attention to each child’s physical development. In addition, stimulation is required, involving group participation in games of all kinds, the use of physical education apparatus, athletics, and a wide variety of indoor and outdoor activities-music and movement, dance, drama, and skills such as swimming, riding, tricycling, canoeing and field events. In effect, the physical education programme should be as all-embracing as the nature of the handicap and the child‘s progress permits. Staff must be aware of, and assist with, the personal physical correction and posturing of the children in and out of class and according to the particular requirement of the moment. 524
1975, 17
has been made and therefore there is no need to enquire further into the pathophysloiogy. On the contrary, very little seems to be known about these movements and further studies are essential. More use of film and polygraphic recordings may help the clinician, even though the final answer is likely to come from the biochemist. NEILGORDON Booth Hall Children’s Hospital, Blackley, Manchester M9 2AA. REFERENCES 1. Campbell, A. M. G., Garland, H. (1956) ‘Subacute myoclonic spinal neuritis.’ Journal of Neurology, Neurosurgery and Psychiatry, 19, 268. 2. Aron, A. M., Freeman, J. M., Carter, S. (1965) ‘The natural history of Sydenham’s chorea.’ American Journal of Medicine, 38, 83. 3. Bradshaw, J. P. P. (1954) ‘A study of myoclonus.’ Brain, 77, 138. 4. Halliday, A. M. (1967) ‘The electrophysiological study of myoclonus in man.’ British Journal of Hospital Medicine, 9, 428. 5. Marsden, C. D., Parkes, J . D. (1973) ‘Abnormal movement disorders.’ 6. Ingram, T. T. S . (1964) Paediatric Aspects of Cerebral Palsy. Edinburgh: Livingstone. 7 . Brandt, S., Carlsen, N., Glenting, P., Helweg-Larsen, J. (1974) ‘Encephalopathia myoclonica infantilis (Kinsbourne) and neuroblastoma in children. A report of three cases.’ Developmental Medicine and Child Neurology. 16, 286. 8. Kinsbourne, M. (1962) ‘Myoclonic encephalopathy of infants.’ Journal of Neurology, Neurosurgery and Psychiatry, 25, 271. 9. Pampiglione, G . , Maia, M. (1972) ‘Syndrome of rapid irregular movements of eyes and limbs in childhood.’ British Medical Journal, 1, 469. 10. Minoli, G., Tredici, G . (1974) ’Levodopa in treatment of myoclonus.’ Lancet, ii, 472. 1 1 . Bird, E. D., Mackay, A. V. P., Rayner, C. N., Iverson, L. L. (1973) ‘Reduced glutamic acid decarboxylase activity of post-mortem brain in Huntington’s chorea.’ Lancer, i, 1090. 12. Wooten, G . F., Eldridge, R.,, Axelrod, J., Stern, R. S. (1973) ‘Elevated plasma dopamine-p-hydroxylase activity in autosomal dominant torsion dystonia.’ New England Journal of Medicine, 288, 284.
CLEIDOCRANIAL DYSOSTOSIS IT is not often that a rare genetic disease can be traced back more than 30,000 years! But evidence of cleidocranial dysostosis has been found in the skull of a neanderthal man’. Individuals with the disorder living in more recent times were first described by MECKEL in 17602and later by MARIEand SAINTON in 1 89g3. Patients with cleidocranial dysostosis have an abnormal skull shape, delayed closure of the anterior fontanelle and cranial sutures, hypoplastic or absent clavicles, delayed eruption of the secondary dentition and abnormalities of the bony pelvis. With few exceptions, the clinical manifestations of cleidocranial dysostosis are confined to the osseous skeleton. The disorder is genetically transmitted as an autosomal dominant gene of high penetrance, and it has been variously estimated that between 16 and 39 per cent of cases are sporadic and are probably due to new dominant mutations. Mean paternal age has been shown to be higher for these sporadic cases and this strengthens the case for new dominant mutation4. The skull sutures and the anterior fontanelle remain open well beyond the expected time of closure; indeed the anterior fontanelle may still be open in old age. The skull has a wide biparietal diameter and is brachycephalic, giving, with the open sutures, the impression of a ‘hot-cross bun’. There are multiple wormian bones, calvarial thickening and sclerosis, deformity of the foramen magnum (occasionally associated with syringomyelia) and hypoplastic sinuses. Hypertelorism is a further result of the unusual skull shape. The clavicles are absent (10 per cent of cases) or hypoplastic. When this is unilateral it is the right clavicle which is almost invariably the abnormal one5, except in one patient who 522
ANNOTATIONS
had dextrocardia. On x-ray, two fragments of the clavicle are often seen and they sometimes form a pseudarthrosis. The sternal ends of the clavicles may be missing. The spinal abnormalities of cleidocranial dysostosis are less well known. Spina bifida of the cervical or upper thoracic spine is not uncommon; hemivertebrae may lead to scoliosis; 24 per cent of patients have lumbar spondylolysis; and posterior wedging of the vertebrae is seen. The thorax is 'cone-shaped'. and with the sloping shoulders this produces a characteristic posture. In the pelvis the pubic bones ossify late, often in the third decade. The diameter of the pelvic outlet is reduced. When the mother is afl'ected, fetuses w i t h cleidocranial dysostosisand hence a wide biparietal diameter-must sometimes (36 per cent) be delivered by caesarean section because of cephalopelvic disproportion. X-rays of the pelvis often show small iliac bones and wide 'see-through' sacro-iliac joints. The capital femoral epiphyses have a characteristic lateral notch and the femoral necks are wide. In the hands, the terminal phalanges are pointed, the second metacarpal is lengthened by an extra proximal epiphysis and many patients have brachymesophalangy and clinodactyly of the fifth finger. Although primary dentition is normal, permanent dentition is not. There is a delay in eruption of permanent teeth, even though they are all present i n the jaw. Sometimes there are increased numbers of unerupted permanent teeth. The delay in eruption may be very prolonged, and not uncommonly new teeth are cut under a denture. One edentulous lady cut a tooth at 78 years of age5. Most patients with cleidocranial dysostosis are below-average in height, though they are never excessively short. Deafness is an uncommon complicationn and may result from pressure on the auditory nerve in its bony canal. Intelligence is usually normal in cleidocranial dysostosis, though occasionally there may be intrupurtuni brain damage from cephalopelvic disproportion. In the neonatal period the condition is sometimes misdiagnosed as hydrocephalus. In spite of the absent or hypoplastic clavicles and the ability of these patients to bring their shoulders together anteriorly, there appears to be no significant loss of strength, nor a susceptibility to injury of the shoulder girdle, and work capacity is normal. Life span is not reduced. Pycnodysostosis is sometimes confused with cleidocranial dysostosisi. but is distinguishable by normal clavicles, osteosclerosis. bone fragility and autosomal recessive inheritance. Cleidocranial dysostosis is widespread among ethnic groups, examples having been reported in Caucasians, Hindus, Sudanese, American Negroes, Mestizos. Jews and Chinese. One of the more extensive pedigrees was described by JACKS ON^, the condition occurring in many descendants of a Chinese named Arnold who "embraced the Mohammadan religion and seven wives"'".
c. SIGGERS
DAVID
Child Health Department, Southampton General Hospital, Southampton, SO9 4XY. REFERENCES I. Greig, D. M. (1933) 'Neanderthaloid skull presenting features of cleidocranial dysostosis and other peculiarities.' Edinburgh Medical Juronal, 40, 491. 2. Meckel (1760), cited by Terry (1901) 'A skeleton with rudimentary clavicles, divided parietal bones and other anonlalous conditions.' .4uwricn,r Jorrrnul ofAnatutn.v, 1, 509.
523
DEVELOPMENTAL M E D I C I N E AND CHILD NEUROLOGY.
1975, 17
3. Marie, P., Sainton, P. (1898) ’Sur la dysostose cleidocranienne hereditaire.’ Revue Neurologique, 6,835. 4. Jones, K. L., Smith, D. W., Harvey, M. A. S., Hall, B. D., Quan, L. ‘Older paternal age and fresh gene mutation : data on additional disorders.’ Journal oJPediatrics, 86, 84. 5. Jarvis, J . L., Kcats, T. E. (1974) ‘Cleidocranial dysostosis. A review of 40 new cases.’ American Journal of Roentgenology, 121, 5 . 6. Gay, I. (1958) ‘A case of dysostosis cleidocranialis with mixed deafness.’ Journal ofLaryngology and Otology, 72, 915. 7. Thorns, J. (1958) ‘Cleidocranial dysostosis. Report of two cases with special characteristics.’ Acfa Radiologica. 50, 514. 8. Kalliala, E., Taskinen, P. J. (1962) ‘Cleidocranial dysostosis. Report of six typical cases and one atypical case.’ Oral Surgery, 15, 808. 9. Jackson, W. P. U. (1 951) ‘Osteo-dental dysplasia (cleido-cranial dysostosis). The “Arnold head”.’ Acta Medica Scandinavica, 139, 292. 10. McKusick, V. A. (1971) Mendelian Inheritance in Man, 3rd ed. Baltmore: Johns Hopkins.
THE CARE OF THE CEREBRAL-PALSIED CHILD AT SCHOOL IN their interesting chapter ‘The Paediatric RGle in the Care of the Child with Cerebral Palsy’’, BAXand MACKEITHcomment: “Our own feeling is that by the time the child has reached school age, he should no longer have to attend daily hour-long physical therapy sessions. Rather than interrupt the child’s schooling, physical management should take the form of physical education within an ordinary school curriculum, albeit of a specially planned and well thought-out nature”. Implicit in this comment is the supposition that these children will have gained maximum benefit from physiotherapy before starting school. In order to maintain a balance in the requirements of the cerebral-palsied child in school, one must be careful that the pendulum is not allowed to swing too far away from the physical treatment . . . “albeit of a specially planned and well thought-out nature”. Obviously, too, intensive physiotherapy will for short periods be required for children who have recently undergone orthopaedic surgery. The physical education programme must be based on several elements:-( 1) Good postural positions must be encouraged to enable the child to function to the best of his ability. To ‘function’ may mean sitting (on a chair or on the floor) in a desirable posture, or even lying in extension if necessary-and listening-as is required for certain lessons. Unless the postural position is comfortable and relaxed, the purpose of the lesson may be lost because of the child’s efforts to maintain balance or position. ‘Function’ may also mean the child being in the best postural position to perform a particular physical function, for example writing, typing or sewing. (2) Postural correction should be made when desirable in an effort to improve the quality of a function or postural position, to overcome a defect or to prevent the development of a contracture or deformity. Such corrections can be carried out in class while the child is functioning physically or intellectually, or both. All members of staff, whatever their professional discipline, are involved in this posturing of the children, and corrections are made automatically and continuously according to the child’s needs and the nature of the lesson. They give ‘personal’ attention to each child’s physical development. In addition, stimulation is required, involving group participation in games of all kinds, the use of physical education apparatus, athletics, and a wide variety of indoor and outdoor activities-music and movement, dance, drama, and skills such as swimming, riding, tricycling, canoeing and field events. In effect, the physical education programme should be as all-embracing as the nature of the handicap and the child‘s progress permits. Staff must be aware of, and assist with, the personal physical correction and posturing of the children in and out of class and according to the particular requirement of the moment. 524
