1990, The British Journal of Radiology, 63, 308-310
confine attention to the abdomen. A working diagnosis must be reached as soon as possible and achieved by a careful clinical assessment which is repeated often after a short period of time (Jackson, 1963; Jones, 1976). Investigation will include urine analysis, and a plain abdominal radiograph may be taken, particularly if a clinical diagnosis is not apparent. Although a valuable investigation for demonstrating a radio-opaque faecolith, intestinal obstruction or intussusception, in one large series the abdominal radiograph did not suggest a diagnosis which was not clinically suspected (Drake, 1980). In the cases of acute abdominal pain described here, the plain abdominal radiograph suggested the diagnosis, which was not apparent on the initial clinical assessment, as a result of including the lung bases. Lower lobe pneumonia accounts for between 2% and 5% of causes of acute abdominal pain in children (Winsey & Jones, 1967; Jona & Belin, 1976; Jones, 1976; Sims & Alexander, 1976). Although tachypnoea of peritonitis is recognized, a raised respiratory rate should provide a clue to the correct diagnosis, even in the absence of chest signs. Dominance of abdominal symptoms over the thoracic findings is not unusual. It has been recommended that a chest radiograph including a lateral view be taken in all children presenting with an acute abdomen, irrespective of whether an abdominal radiograph is taken (Jona & Belin, 1976; Anon, 1976). Since pneumonia accounts for only 2.5% of causes of acute abdominal pain, few would wish to incur this extra irradiation to the child and extra cost. It is, therefore, not usual paediatric practice to take radiographs of the chest or the abdomen as a routine in all cases of abdominal pain. This report suggests that, in cases of clinical uncertainty where a plain abdominal
Case reports
radiograph is taken, the diagnostic value of this can be increased by including the lung base. The report also stresses the importance of not confining attention to the areas below the diaphragm when viewing an abdominal radiograph. Acknowledgments With thanks to Dr B. Priestley, Dr C. Taylor and Mr A. E. MacKinnon at the Sheffield Children's Hospital for granting permission to describe cases under their care. References ANON, (1976). Children with appendicitis. British Medical Journal, ii, 440-441. DICKSON, J. A. S., JONES, A., TELFER, S. & DE DOMBAL, F.
T.,
1988. Acute abdominal pain in children. Scandinavian Journal of Gastroenterology, 23, Suppl. 144, 43-46. DRAKE, D. P., 1980. Acute abdominal pain in childhood. Journal of the Royal Society of Medicine, 73, 641-645. JACKSON, R. H., 1963. Parents, family doctors and acute appendicitis in childhood. British Medical Journal, ii, 277-281. JONA, J. Z. & BELIN, R. P., 1976. Basilar pneumonia simulating acute appendicitis in children. Archives of Surgery, Hi, 552-553. JONES, P. F., 1969. Acute abdominal pain in childhood with special reference to cases not due to acute appendicitis. British Medical Journal, ii, 284-286. JONES, P. F., 1976. Active observation in management of acute abdominal pain in childhood. British Medical Journal, ii, 551-553. SIMS, D. G. & ALEXANDER, F. W., 1976. Acute abdominal pain in childhood. British Medical Journal, ii, 880-881. WINSEY, H. S. & JONES, P. F., 1967. Acute abdominal pain in childhood: analysis of a year's admissions. British Medical Journal, i, 653-655.
Congenital indifference to pain mistaken for non-accidental injury By J . A. Spencer, MRCP, FRCR and D. K. Grieve, M B , FRCR Department of Radiology, Wexham Park Hospital, Slough, Berkshire
(Received July 1989)
Congenital indifference to pain is a rare autosomal recessive inherited condition with cutaneous and skeletal lesions that mimic non-accidental injury (NAI). We present this case to illustrate the difficulty in differentiating the two conditions in early childhood and to demonstrate discriminatory features in the older child. Case report The affected boy, born in the UK to Pakistani parents, first came to medical attention aged 6 months. (He had escaped the Address correspondence to Dr J. A. Spencer, Department of Radiology, John Radcliffe Hospital, Headington, Oxford OX3 9DU.
308
obstetric profession having been delivered by his father in the family car in the hospital car park!) When admitted to investigate recurrent chest infections, he was noted to have burns on his left hand. His parents explained that he had touched an electric heater while crawling. He was underweight, but his parents claimed that he was a poor feeder. Over a 6 month period there were several further admissions with chest infections, mainly affecting the right upper lobe. No underlying cause was found. The pneumonias resolved and were retrospectively attributed to episodes of aspiration. A further unexplained feature was recurrent oral and labial ulceration including one deep lesion on the tongue. At 18 months of age he was taken to the Accident Department by his parents who had noticed a boggy mass over his occiput. An occipital fracture was present (Fig. 1). No explanaThe British Journal of Radiology, April 1990
Case reports tion was offered by his parents. Further suspicion of nonaccidental injury (NAI) was raised by burns on the fingers of the right hand, deep cuts to both index fingers and a number of bruises about the trunk and limbs (Fig. 2). One revealing note by the admitting physician was his father's comment that the child was always running into things but never cried. This admission was following by a case conference under the Child Abuse Procedures at which close supervision by his GP and community services were urged. Six months later he was admitted at the request of his GP with a fresh burn to his left hand. His teeth were rotten and his tongue and lips ulcerated. He was accompanied by his 16-yearold step-sister whose heated iron he had been discovered touching, apparently without pain. This crucial information was followed by provocative sensory testing on the ward which confirmed a lack of response to painful stimuli but showed normal tactile sensation. After assessment at the Great Ormond Street Hospital for Sick Children, he was diagnosed as having a hereditary sensory neuropathy with loss of pain and temperature sensation. Detailed electrophysiological studies and electron-microscopy suggested similarities with another Asian kindred. In his family in Pakistan, one cousin aged 4 years has been found to have similar clinical features. Another, who died aged 5 years, is strongly suspected of having been affected. All three cases involve first cousin marriages within the same extended family. A further case conference was held in an attempt to advise the family on how to protect him from self harm. This appears to have been partially successful. Now in his first year at school, he was recently seen by his GP with swollen knees following a fall in the playground. Knee radiographs were requested (Fig. 3). Discussion Figure 1. Skull radiograph showing a linear occipital fracture.
(a)
The bizarre skeletal manifestations in early childhood of congenital indifference to pain result both from
(b)
Figure 2. Clinical photographs of burns to the right hand and right foot, in (b) similar to a cigarette stubbing injury. Vol. 63, No. 748
309
Case reports
Figure 3. Radiograph of the knees at 5 years of age. In addition to aseptic necrosis of the lateral femoral condyles, there is growth plate widening in the distal femora.
episodes of major trauma (which may go unrecognized) and from repeated microtrauma. In addition, various forms of osteomyelitis occur (Murray, 1957; Silverman & Gilden, 1959). The Charcot-type joints of other neuropathic conditions are not manifest until later childhood (Siegelman et al, 1966). In infancy cortical thickening is seen in the long bones as a result of repeated sub-periosteal haemorrhage. Metaphyseal injuries may also be found. An almost identical pattern of injuries was described contemporaneously with NAI (Caffey, 1957). When associated with the burns and other cutaneous and oral results of self mutilation, the condition may be extremely difficult to differentiate from NAI. In slightly older children after walking commences, there are repeated episodes of microtrauma resulting in areas of aseptic necrosis and osteochronditis in the juxta-articular regions of weight bearing joints (Siegelman et al, 1966). The lateral femoral condyle is particularly affected in contrast to the usual medial sites of osteochronditis dissecans in childhood and aseptic
310
necrosis in the adult (Murphy, 1986). This difference is unexplained but may reflect unusual stresses consequent upon the feats of valour that affected children are prone to perform such as jumping or diving from heights. Joint deformity and swelling may also result from epiphyseal plate injury and even displacement (Murray, 1957). Widening of the growth plate (Siegelman et al, 1966) may also cause confusion with NAI. The clinical features of congenital indifference to pain may provide helpful discriminators. Corneal opacities may result (from unrecognized ocular trauma) and the oro-labial ulceration is often out of all proportion to the skeletal manifestations. The history provided by parents and siblings, as with suspected NAI, may also give vital clues. Affected individuals are noted not to cry after corporal punishment (Murray, 1957). Conversely, one mother was reported to have cried from the pain of hitting her affected child (Silverman & Gilden, 1959). In his editorial footnote to this article, Felson remarks that the condition gives a new twist to the old saying "this hurts me more than it does you". Acknowledgments We would like to thank Dr J. Connel for permission to report this case and Dr D. Lindsell for his helpful advice. References CAFFEY, J., 1957. Some traumatic lesions in growing bones other than fractures and dislocations: clinical and radiological features. British Journal of Radiology, 30, 225-238. MURPHY, W. A., 1986. In Diagnostic Radiology. Ed. by R. G. Grainger & D. J. Allison (Churchill Livingstone, Edinburgh), pp. 1473-1508. MURRAY, R. O., 1957. Congenital indifference to pain with special reference to skeletal changes. British Journal of Radiology, 30, 2-10. SIEGELMAN, S. S., HEIMANN, W. G. & MANIN, M. C ,
Congenital indifference to pain. American Roentgenology, 97, 242-247. SILVERMAN,
F.
N.
&
GILDEN,
J.
J.,
1959.
1966.
Journal of Congenital
insensitivity to pain: a neurologic syndrome with bizarre skeletal lesions. Radiology, 72, 176-189.
The British Journal of Radiology, April 1990
confine attention to the abdomen. A working diagnosis must be reached as soon as possible and achieved by a careful clinical assessment which is repeated often after a short period of time (Jackson, 1963; Jones, 1976). Investigation will include urine analysis, and a plain abdominal radiograph may be taken, particularly if a clinical diagnosis is not apparent. Although a valuable investigation for demonstrating a radio-opaque faecolith, intestinal obstruction or intussusception, in one large series the abdominal radiograph did not suggest a diagnosis which was not clinically suspected (Drake, 1980). In the cases of acute abdominal pain described here, the plain abdominal radiograph suggested the diagnosis, which was not apparent on the initial clinical assessment, as a result of including the lung bases. Lower lobe pneumonia accounts for between 2% and 5% of causes of acute abdominal pain in children (Winsey & Jones, 1967; Jona & Belin, 1976; Jones, 1976; Sims & Alexander, 1976). Although tachypnoea of peritonitis is recognized, a raised respiratory rate should provide a clue to the correct diagnosis, even in the absence of chest signs. Dominance of abdominal symptoms over the thoracic findings is not unusual. It has been recommended that a chest radiograph including a lateral view be taken in all children presenting with an acute abdomen, irrespective of whether an abdominal radiograph is taken (Jona & Belin, 1976; Anon, 1976). Since pneumonia accounts for only 2.5% of causes of acute abdominal pain, few would wish to incur this extra irradiation to the child and extra cost. It is, therefore, not usual paediatric practice to take radiographs of the chest or the abdomen as a routine in all cases of abdominal pain. This report suggests that, in cases of clinical uncertainty where a plain abdominal
Case reports
radiograph is taken, the diagnostic value of this can be increased by including the lung base. The report also stresses the importance of not confining attention to the areas below the diaphragm when viewing an abdominal radiograph. Acknowledgments With thanks to Dr B. Priestley, Dr C. Taylor and Mr A. E. MacKinnon at the Sheffield Children's Hospital for granting permission to describe cases under their care. References ANON, (1976). Children with appendicitis. British Medical Journal, ii, 440-441. DICKSON, J. A. S., JONES, A., TELFER, S. & DE DOMBAL, F.
T.,
1988. Acute abdominal pain in children. Scandinavian Journal of Gastroenterology, 23, Suppl. 144, 43-46. DRAKE, D. P., 1980. Acute abdominal pain in childhood. Journal of the Royal Society of Medicine, 73, 641-645. JACKSON, R. H., 1963. Parents, family doctors and acute appendicitis in childhood. British Medical Journal, ii, 277-281. JONA, J. Z. & BELIN, R. P., 1976. Basilar pneumonia simulating acute appendicitis in children. Archives of Surgery, Hi, 552-553. JONES, P. F., 1969. Acute abdominal pain in childhood with special reference to cases not due to acute appendicitis. British Medical Journal, ii, 284-286. JONES, P. F., 1976. Active observation in management of acute abdominal pain in childhood. British Medical Journal, ii, 551-553. SIMS, D. G. & ALEXANDER, F. W., 1976. Acute abdominal pain in childhood. British Medical Journal, ii, 880-881. WINSEY, H. S. & JONES, P. F., 1967. Acute abdominal pain in childhood: analysis of a year's admissions. British Medical Journal, i, 653-655.
Congenital indifference to pain mistaken for non-accidental injury By J . A. Spencer, MRCP, FRCR and D. K. Grieve, M B , FRCR Department of Radiology, Wexham Park Hospital, Slough, Berkshire
(Received July 1989)
Congenital indifference to pain is a rare autosomal recessive inherited condition with cutaneous and skeletal lesions that mimic non-accidental injury (NAI). We present this case to illustrate the difficulty in differentiating the two conditions in early childhood and to demonstrate discriminatory features in the older child. Case report The affected boy, born in the UK to Pakistani parents, first came to medical attention aged 6 months. (He had escaped the Address correspondence to Dr J. A. Spencer, Department of Radiology, John Radcliffe Hospital, Headington, Oxford OX3 9DU.
308
obstetric profession having been delivered by his father in the family car in the hospital car park!) When admitted to investigate recurrent chest infections, he was noted to have burns on his left hand. His parents explained that he had touched an electric heater while crawling. He was underweight, but his parents claimed that he was a poor feeder. Over a 6 month period there were several further admissions with chest infections, mainly affecting the right upper lobe. No underlying cause was found. The pneumonias resolved and were retrospectively attributed to episodes of aspiration. A further unexplained feature was recurrent oral and labial ulceration including one deep lesion on the tongue. At 18 months of age he was taken to the Accident Department by his parents who had noticed a boggy mass over his occiput. An occipital fracture was present (Fig. 1). No explanaThe British Journal of Radiology, April 1990
Case reports tion was offered by his parents. Further suspicion of nonaccidental injury (NAI) was raised by burns on the fingers of the right hand, deep cuts to both index fingers and a number of bruises about the trunk and limbs (Fig. 2). One revealing note by the admitting physician was his father's comment that the child was always running into things but never cried. This admission was following by a case conference under the Child Abuse Procedures at which close supervision by his GP and community services were urged. Six months later he was admitted at the request of his GP with a fresh burn to his left hand. His teeth were rotten and his tongue and lips ulcerated. He was accompanied by his 16-yearold step-sister whose heated iron he had been discovered touching, apparently without pain. This crucial information was followed by provocative sensory testing on the ward which confirmed a lack of response to painful stimuli but showed normal tactile sensation. After assessment at the Great Ormond Street Hospital for Sick Children, he was diagnosed as having a hereditary sensory neuropathy with loss of pain and temperature sensation. Detailed electrophysiological studies and electron-microscopy suggested similarities with another Asian kindred. In his family in Pakistan, one cousin aged 4 years has been found to have similar clinical features. Another, who died aged 5 years, is strongly suspected of having been affected. All three cases involve first cousin marriages within the same extended family. A further case conference was held in an attempt to advise the family on how to protect him from self harm. This appears to have been partially successful. Now in his first year at school, he was recently seen by his GP with swollen knees following a fall in the playground. Knee radiographs were requested (Fig. 3). Discussion Figure 1. Skull radiograph showing a linear occipital fracture.
(a)
The bizarre skeletal manifestations in early childhood of congenital indifference to pain result both from
(b)
Figure 2. Clinical photographs of burns to the right hand and right foot, in (b) similar to a cigarette stubbing injury. Vol. 63, No. 748
309
Case reports
Figure 3. Radiograph of the knees at 5 years of age. In addition to aseptic necrosis of the lateral femoral condyles, there is growth plate widening in the distal femora.
episodes of major trauma (which may go unrecognized) and from repeated microtrauma. In addition, various forms of osteomyelitis occur (Murray, 1957; Silverman & Gilden, 1959). The Charcot-type joints of other neuropathic conditions are not manifest until later childhood (Siegelman et al, 1966). In infancy cortical thickening is seen in the long bones as a result of repeated sub-periosteal haemorrhage. Metaphyseal injuries may also be found. An almost identical pattern of injuries was described contemporaneously with NAI (Caffey, 1957). When associated with the burns and other cutaneous and oral results of self mutilation, the condition may be extremely difficult to differentiate from NAI. In slightly older children after walking commences, there are repeated episodes of microtrauma resulting in areas of aseptic necrosis and osteochronditis in the juxta-articular regions of weight bearing joints (Siegelman et al, 1966). The lateral femoral condyle is particularly affected in contrast to the usual medial sites of osteochronditis dissecans in childhood and aseptic
310
necrosis in the adult (Murphy, 1986). This difference is unexplained but may reflect unusual stresses consequent upon the feats of valour that affected children are prone to perform such as jumping or diving from heights. Joint deformity and swelling may also result from epiphyseal plate injury and even displacement (Murray, 1957). Widening of the growth plate (Siegelman et al, 1966) may also cause confusion with NAI. The clinical features of congenital indifference to pain may provide helpful discriminators. Corneal opacities may result (from unrecognized ocular trauma) and the oro-labial ulceration is often out of all proportion to the skeletal manifestations. The history provided by parents and siblings, as with suspected NAI, may also give vital clues. Affected individuals are noted not to cry after corporal punishment (Murray, 1957). Conversely, one mother was reported to have cried from the pain of hitting her affected child (Silverman & Gilden, 1959). In his editorial footnote to this article, Felson remarks that the condition gives a new twist to the old saying "this hurts me more than it does you". Acknowledgments We would like to thank Dr J. Connel for permission to report this case and Dr D. Lindsell for his helpful advice. References CAFFEY, J., 1957. Some traumatic lesions in growing bones other than fractures and dislocations: clinical and radiological features. British Journal of Radiology, 30, 225-238. MURPHY, W. A., 1986. In Diagnostic Radiology. Ed. by R. G. Grainger & D. J. Allison (Churchill Livingstone, Edinburgh), pp. 1473-1508. MURRAY, R. O., 1957. Congenital indifference to pain with special reference to skeletal changes. British Journal of Radiology, 30, 2-10. SIEGELMAN, S. S., HEIMANN, W. G. & MANIN, M. C ,
Congenital indifference to pain. American Roentgenology, 97, 242-247. SILVERMAN,
F.
N.
&
GILDEN,
J.
J.,
1959.
1966.
Journal of Congenital
insensitivity to pain: a neurologic syndrome with bizarre skeletal lesions. Radiology, 72, 176-189.
The British Journal of Radiology, April 1990
