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Osteopetrosis in trauma
The Journal of Emergency Medione, Vol.
1,pp.125-131, 1983
Printed in the USA
CopyrIght 0 1983 Pergamon Press Ltd
??
Case
OSTEOPETROSIS
Report
IN TRAUMA
Raymond M. Fish,
PhD, MD
Burnham Hospital Trauma Center, Champaign, Illinois Reprint address: Raymond M. Fish, MD, 601 McHenry, Urbana, IL 61801
El Abstract-A 19-year-old male with a bone disease that predisposes to pathological fractures was involved in an automobile accident. Although the physician must always look for multiple injuries in any trauma patient, this case illustrates that in the patient with bone disease, the probability of multiple fractures is extremely high. The differential diagnosis of dense-bone disease is discussed as are considerations relevant to caring for the trauma patient with bone disease. 0 Keywords-trauma; spine; fracture
osteopetrosis; cervical
Case Report This case involves a white male who had been diagnosed as having osteopetrosis at the age of 4 because of anemia and frequent fractures. He had no neurological disease and seemed to be of above average intelligence. He was normal in appearance and was able to function socially. He had been unable to perform heavy labor because of his condition. The patient was a passenger in an automobile involved in an accident. He was thrown clear of the car and was quadriplegic at the scene. He arrived at the local
hospital with a blood pressure of 1lo/70 mm Hg and a pulse rate of 60 beats/min. He denied feeling any sensation from his shoulders down. Because of a hematocrit reading of 27% a transfusion of 1 unit of packed cells was given, and MAST trousers were applied but not inflated. The patient was transferred to our institution. On arrival his blood pressure was 112/78 mm Hg; temperature, 94.4’F; pulse rate, 64 beats/min; respirations, 20. He had no sensation below C6-7 and was areflexic. His plantar responses were present and down going. He had no sensory sparing of the lower sacral area or of the rest of his body. He had pain in his left shoulder region. Breathing was abdominal with little or no chest movements. The patient complained of inability to cough. There were no bowel sounds. Palpation of the abdomen revealed a firm spleen extending to about the level of the umbilicus and to the midline. A peritoneal lavage was performed in the right lower quadrant by dissection through the abdominal wall muscles in the area. Lavage was done in the right lower quadrant in order to avoid the enlarged spleen. A liter of fluid was instilled, and the return was clear. Multiple cervical fractures were seen on
=
Clinical Communications focusing primarily on adult emergencies is coordinated by Michael Tomlanovich, MD, of Henry Ford Hospital in Detroit.
RECEIVED:
7 March 1983; ACCEPTED:
13
June 1983 125
0736-4679183$3.00 + .OO
126
x-ray examination (Figure 1). Transverse fractures through the posterior elements of Cl, C2, C3, C4, and C5 vertebral bodies were noted, with a cornminuted fracture of the anterior aspect of the vertebral body of C5. A fracture of the posterior elements of C6 was also identified. There were fractures involving the pedicles of C2, a Hang-
Figure 1. Cervical spine x-ray on date of injury.
Raymond M. Fish
man’s fracture. It was felt that the quadriplegia was due to spinal cord compression associated with the C5 fracture. Other fractures were also found, including a cornminuted fracture of the nasal bone with avulsion of the distal tip and a cornminuted oblique fracture of the left proximal humeral metaphysis and of the
127
Osteopetrosis
Figure 2. Chest x-ray 21/a months afler injury showing characteristic of the scapula.
left proximal ulnar shaft. Fractures of the right third, fourth, fifth, and sixth ribs were found. There was a cornminuted fracture of the right scapula (Figure 2). Figure 3 shows the fracture of the humerus. There was also a transverse fracture through the sacrum extending from the distal right
density of bones and fracture
sacroiliac joint to the left sacroiliac joint. There was a linear fracture of the lateral femoral condyle which did not pass completely through the bone. While in the emergency department, Gardner-Wells skull tongs were applied. Four weeks after admission a halo vest was
128
Raymond M. Fish
Figure 3. Appearance of fracture of humerus 2% months after injury.
applied. The hospital course was prolonged by problems caused by neurogenic pulmonary insufficiency and urinary tract infections. Four months after admission, the patient was transferred to a rehabilitation center.
A Discussion of Osteopetrosis Osteopetrosis is thought to result from dysfunction of osteoclasts, the multinucleated giant cells that resorb bone and mineralized cartilage.‘G2 Defective bone resorption by osteoclasts, in the presence of normal bone
129
Osteopetrosis
formation by osteoblasts, results in the deposition of excessive mineralized osteoid and cartilage. Osteopetrosis was first described in 1904 by the German radiologist Heinrich AlbersSchonberg in a 26-year-old man with generalized skeletal sclerosis and multiple fractures.3 Since then, more than 400 cases have been reported.4 At least two genetic types have been distinguished: a “benign” form with relatively few symptoms and a severe “malignant” form characterized by multiple complications and early death. A possible case of the severe form was reported in a mandible dating from 350 to 550 AD.~ The condition has been described as Albers-Schonberg disease, marble bone disease, osteosclerosis fragilis generalisata, or osteopetrosis.5 The benign form of osteopetrosis is inherited as an autosomal dominant trait; the severe form is inherited in a recessive manner. Intermediate forms of osteopetrosis, apparently inherited as recessive traits, also exist.” Although the benign form of the disease is inherited in an autosomal dominant manner, there are instances of nonpenetrance. The severity of the condition varies greatly within a family. The two basic types of osteopetrosis are the infantile (severe) and the adult (benign) forms.’ The infantile form is also called precocious, malignant, or congenital and is characterized by signs and symptoms due to invasion of the bone marrow space and other areas by abnormal bone formation. Signs and symptoms of the infantile form of osteopetrosis include anemia, thrombocytopenia, hepatosplenomegaly, recurrent infections,8 cranial nerve palsies including optic atrophy,9 failure to thrive, and death at an early age. In severely affected cases, the fetus may be stillborn. Those who survive are of small stature and fail to thrive. The bones are fragile and pathological fractures are common. Additional problems arise from the sclerotic bone of the skull, where narrowed foramina in the base result in cranial nerve
palsies, particularly of the second, seventh, and eighth nerves. Hydrocephalus may occur, probably in association with a narrowed foramen magnum. Dentition is delayed, and the teeth are small.‘O The adult form of osteopetrosis is also called benign or tarda and is compatible with normal survival.5 These patients may be asymptomatic or may have fractures, cranial nerve compression, bone pain, or osteomyelitis.” There are variations within the two general types. Horton et al7 describe two children with a mild recessive form of osteopetrosis. Lovisetto et alI2 suggest that there are two adult varieties of osteopetrosis. One is a malignant form that has the same clinical picture as the childhood type but that occurs at an advanced age. The other adult form is a benign form that is usually asymptomatic until an advanced age, sometimes as late as age 65. Allogenic bone marrow transplantation appears to be the treatment of choice in the usually fatal infantile malignant form of osteopetrosis. No therapy for the milder forms of the disease has been successful.
Radiographic Appearance of Osteopetrosis The skeletal manifestations of the adult and juvenile forms of osteopetrosis are similar. Bones are massive in appearance, but with a consistency and strength more like that of chalk than of marble. The homogenous radiographic appearance of the bones is diagnostic. Few landmarks, except the growth plates, are easily identifiable. The cortex is poorly defined. The medullary cavity is thinned or absent.13 A pattern of trabecular organization cannot be discerned. The vertebrae may be uniformly dense or have a “sandwich” appearance in which there are segments of increased density above and below separated by a band of more translucent bone. Metacarpals and phalanges may show a “bone within a bone”
Raymond M. Fish
130
appearance. Occasionally the ilium may have arcuate bandslo All other bones in the body are dense and sclerotic, with no distinctions between cortical and cancellous bone.14 This uniform total body involvement is the main feature that differentiates osteopetrosis from other bone diseases.
Differential Diagnosis of Dense Bones The differential diagnosis of dense bones includes malignancy, old trauma, and several types of chronic poisoning. Differential diagnosis also includes a variety of diseases of congenital or unknown etiologies, including osteopetrosis and Paget’s disease. Paget’s disease (osteitis deformans) is a condition that affects approximately 3% of the population over the age of 40 years. It is usually a locahzed process in one or a few regions of the skeleton. Occasionally it is widespread and severe, producing extensive osseous deformity. Local pain and tenderness are frequently present at an affected skeletal site. Increasing bone size may produce clinical findings, such as enlarging head size and genu varum. The sclerotic bone is characterized by a mosaic pattern of “cement lines” joining areas of lamellar bone: Osteosclerotic (and osteoporotic) metastases from various types of malignancies are common. Less well known is the periosteal proliferation (secondary hypertrophic osteoarthropathy) associated with many neoplastic and nonneoplastic processes, but most commonly with bronchogenic carcinoma. The findings are commonly bilateral and symmetric, affecting predominantly the extremities. Chronic vitamin A poisoning can cause radiographic signs. These signs are seen most often in children, usually near the end of the first year of life. One sees cortical thickening of the tubular bones, usually associated with soft-tissue nodules. As in cases of acute poisoning, increased intracranial pressure can occur. Occasionally there is widening of the sutures with elongation of the head, hyperostosis in the
occipital and temporal bones, and ventricular enlargement. One of the most well-recognized changes associated with ingestion, inhalation, or injection of lead or other heavy metals is the appearance of radiodense lines at the ends of tubular bones or along the contours of flat and irregular bones. One cannot make the diagnosis of heavy-metal poisoning from x-ray alone, however, since opaque transverse lines extending across the metaphyses of tubular bones occur commonly in children and adults who have not been poisoned. These lines have been called transverse, stress, Park, or Harris lines. They may be due to periods of slowed growth followed by a recovery period. These dense bands may suggest episodes of trauma, infection, poor nutrition, or heavy-metal poisoning. Chronic fluorine intoxication, fluorosis, arises when the drinking water contains fluoride in concentrations of more than 4 parts per million. This occurs endemically in certain geographical areas, especially in India. Fluorosis can also occur in laboratory personnel who have inhaled fluorine vapors and in individuals who habitually drink fluorine-containing wine (wine fluorosis). In skeletal fluorosis, involvement of the axial skeleton is characteristic, with major changes usually being in the spine, pelvis, and ribs. Although osteopenia can appear initially, particularly in children, osteosclerosis usually appears first. Increasing trabecular condensation eventually creates a radiodense or chalky appearance throughout the thorax, vertebral column, and pelvis with obscuration of bony architecture.
Conclusions Although osteopetrosis is a rare condition, this case report illustrates several relevant points. First, the rule of multiple trauma applies (as always): One must look for multiple injuries. A peritoneal lavage was indicated because of lack of sensation in the abdomi-
131
Osteopetrosis
nal region. X-rays of the chest and pelvis were indicated despite lack of signs or symptoms suggesting fractures in those areas. Second, knowledge of the patient’s usual hematocrit (27%) might have avoided an unnecessary transfusion. If possible, blood and other fluids should be administered, taking into account the patient’s clinical status (blood pressure and pulse), knowledge of previous hematocrit, and observations of ongoing losses. The fact that the patient was to be transferred to another hospital an hour away, however, makes the decision to transfuse seem reasonable even in retrospect. Similar considerations apply in cases involving sickle cell anemia, chronic renal failure, and other conditions in which chronic anemia is present. Third, in patients with an enlarged liver or spleen, a peritoneal lavage might best be performed in the mid right or left lower quadrant. This procedure can be done by dissecting through the abdominal wall musculature under direct vision. This procedure will avoid damage to the enlarged liver or spleen. A fourth point illustrated by this case is
that patients do not always have pain associated with their fractures. This patient had no neck pain, though he was complaining of shoulder pain. Emergency physicians see painless fractures most often in patients who have been drinking alcohol (not the situation in this case). Actually, there are several situations in which patients have no pain associated with their fractures. Such situations involve patients with drug usage (especially alcohol), pains elsewhere which are more severe, spinal cord injuries, neuropathies, conversion reactions, and organic brain syndromes caused by hypoxia, hypoglycemia, hypotension, seizures, or cerebral vascular accidents. Thus, fractures may be overlooked in many different types of patients. Finally, this case illustrates that careful handling of the trauma victim can prevent further deterioration of the patient’s condition. The patient had fractures of Cl through C6. He is still able to breathe on his own without assistance from a respirator. If the patient had been handled improperly, he probably would have lost the ability to breathe without assistance.
REFERENCES 1 Coccia PR, Krivit W, Jaroslav C, et al: Successful bone marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980; 302: 701-708. 2. Shapiro F, Glimcher MJ, Holtrop ME, et al: Human osteopetrosis. J Bone Joint Surg Am Apr 1980; 62-A:384-389. 3. Patterson CR: Metabolic Disorders of Bone. Boston, Blackwell Scientific Publications, 1974. 4. Marks SC, Walker DC: Mammalian osteopetrosis-a model for studying cellular and humoral factors in bone resorption, in Bourne GH (ed): The Biochemistry and Physiology of Bone, Vol IV, Calcifications and Physiology. Academic Press, San Diego, 1976; 227-483. 5. Johnston CC, Lavy N, Lord T, et al: Osteopetrosis: A clinical genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine(Baltimore), 1968; 47:2, 149-167. 6. Whyte MP, Murphy WA, Fallon MC, et al: Osteopetrosis, renal tubular acidosis, and basal ganglia calcification in three sisters. Am JA4ed 1980; 69~67-74. 7. Horton WA, Schimke RN, Iyama T: Osteopetrosis further heterogeneity. JPediatr 1980; 97:580585.
8. Reeves JD, Huffer WE, August CS: The hematopoietic effects of prednisone therapy in four infants with osteopetrosis. J Pediatr 1979; 94:2, 210-214. 9. Lehman RA, Reeves JD, Wilson WB, Wesenber RL: Neurological complications of infantile osteopetrosis. Ann Neural 1977; 2:5, 378-384. 10. Wynne-Davies R, Fairbank TJ: Fairbank’s Atlas of General Affections of the Skeleton. New York, Churchill Livingstone, 1976. 11. Steendijk R: Metabolic bone disease in children, in Aviola LV and Krane SM (eds): Metabolic Bone Disease. Academic Press, San Diego 1978; 683787 12. Lovisetto P, Barese V, Marchi L: Essay on the present clinical and nosographical aspects of osteopetrosis. Panminerva Med 1978; 20:213-222. 13. Robbins SL, Cotron RS: Pathologic Basis of Disease. Philadelphia, WB Saunders, 1979; 14811482. 14. Cohen J: Osteopetrosis. Case report, autopsy findings, and pathological interpretation: failure of treatment with vitamin A. J Bone Joint Surg AM Ott 1951; 33-A 4:923-939.
1,pp.125-131, 1983
Printed in the USA
CopyrIght 0 1983 Pergamon Press Ltd
??
Case
OSTEOPETROSIS
Report
IN TRAUMA
Raymond M. Fish,
PhD, MD
Burnham Hospital Trauma Center, Champaign, Illinois Reprint address: Raymond M. Fish, MD, 601 McHenry, Urbana, IL 61801
El Abstract-A 19-year-old male with a bone disease that predisposes to pathological fractures was involved in an automobile accident. Although the physician must always look for multiple injuries in any trauma patient, this case illustrates that in the patient with bone disease, the probability of multiple fractures is extremely high. The differential diagnosis of dense-bone disease is discussed as are considerations relevant to caring for the trauma patient with bone disease. 0 Keywords-trauma; spine; fracture
osteopetrosis; cervical
Case Report This case involves a white male who had been diagnosed as having osteopetrosis at the age of 4 because of anemia and frequent fractures. He had no neurological disease and seemed to be of above average intelligence. He was normal in appearance and was able to function socially. He had been unable to perform heavy labor because of his condition. The patient was a passenger in an automobile involved in an accident. He was thrown clear of the car and was quadriplegic at the scene. He arrived at the local
hospital with a blood pressure of 1lo/70 mm Hg and a pulse rate of 60 beats/min. He denied feeling any sensation from his shoulders down. Because of a hematocrit reading of 27% a transfusion of 1 unit of packed cells was given, and MAST trousers were applied but not inflated. The patient was transferred to our institution. On arrival his blood pressure was 112/78 mm Hg; temperature, 94.4’F; pulse rate, 64 beats/min; respirations, 20. He had no sensation below C6-7 and was areflexic. His plantar responses were present and down going. He had no sensory sparing of the lower sacral area or of the rest of his body. He had pain in his left shoulder region. Breathing was abdominal with little or no chest movements. The patient complained of inability to cough. There were no bowel sounds. Palpation of the abdomen revealed a firm spleen extending to about the level of the umbilicus and to the midline. A peritoneal lavage was performed in the right lower quadrant by dissection through the abdominal wall muscles in the area. Lavage was done in the right lower quadrant in order to avoid the enlarged spleen. A liter of fluid was instilled, and the return was clear. Multiple cervical fractures were seen on
=
Clinical Communications focusing primarily on adult emergencies is coordinated by Michael Tomlanovich, MD, of Henry Ford Hospital in Detroit.
RECEIVED:
7 March 1983; ACCEPTED:
13
June 1983 125
0736-4679183$3.00 + .OO
126
x-ray examination (Figure 1). Transverse fractures through the posterior elements of Cl, C2, C3, C4, and C5 vertebral bodies were noted, with a cornminuted fracture of the anterior aspect of the vertebral body of C5. A fracture of the posterior elements of C6 was also identified. There were fractures involving the pedicles of C2, a Hang-
Figure 1. Cervical spine x-ray on date of injury.
Raymond M. Fish
man’s fracture. It was felt that the quadriplegia was due to spinal cord compression associated with the C5 fracture. Other fractures were also found, including a cornminuted fracture of the nasal bone with avulsion of the distal tip and a cornminuted oblique fracture of the left proximal humeral metaphysis and of the
127
Osteopetrosis
Figure 2. Chest x-ray 21/a months afler injury showing characteristic of the scapula.
left proximal ulnar shaft. Fractures of the right third, fourth, fifth, and sixth ribs were found. There was a cornminuted fracture of the right scapula (Figure 2). Figure 3 shows the fracture of the humerus. There was also a transverse fracture through the sacrum extending from the distal right
density of bones and fracture
sacroiliac joint to the left sacroiliac joint. There was a linear fracture of the lateral femoral condyle which did not pass completely through the bone. While in the emergency department, Gardner-Wells skull tongs were applied. Four weeks after admission a halo vest was
128
Raymond M. Fish
Figure 3. Appearance of fracture of humerus 2% months after injury.
applied. The hospital course was prolonged by problems caused by neurogenic pulmonary insufficiency and urinary tract infections. Four months after admission, the patient was transferred to a rehabilitation center.
A Discussion of Osteopetrosis Osteopetrosis is thought to result from dysfunction of osteoclasts, the multinucleated giant cells that resorb bone and mineralized cartilage.‘G2 Defective bone resorption by osteoclasts, in the presence of normal bone
129
Osteopetrosis
formation by osteoblasts, results in the deposition of excessive mineralized osteoid and cartilage. Osteopetrosis was first described in 1904 by the German radiologist Heinrich AlbersSchonberg in a 26-year-old man with generalized skeletal sclerosis and multiple fractures.3 Since then, more than 400 cases have been reported.4 At least two genetic types have been distinguished: a “benign” form with relatively few symptoms and a severe “malignant” form characterized by multiple complications and early death. A possible case of the severe form was reported in a mandible dating from 350 to 550 AD.~ The condition has been described as Albers-Schonberg disease, marble bone disease, osteosclerosis fragilis generalisata, or osteopetrosis.5 The benign form of osteopetrosis is inherited as an autosomal dominant trait; the severe form is inherited in a recessive manner. Intermediate forms of osteopetrosis, apparently inherited as recessive traits, also exist.” Although the benign form of the disease is inherited in an autosomal dominant manner, there are instances of nonpenetrance. The severity of the condition varies greatly within a family. The two basic types of osteopetrosis are the infantile (severe) and the adult (benign) forms.’ The infantile form is also called precocious, malignant, or congenital and is characterized by signs and symptoms due to invasion of the bone marrow space and other areas by abnormal bone formation. Signs and symptoms of the infantile form of osteopetrosis include anemia, thrombocytopenia, hepatosplenomegaly, recurrent infections,8 cranial nerve palsies including optic atrophy,9 failure to thrive, and death at an early age. In severely affected cases, the fetus may be stillborn. Those who survive are of small stature and fail to thrive. The bones are fragile and pathological fractures are common. Additional problems arise from the sclerotic bone of the skull, where narrowed foramina in the base result in cranial nerve
palsies, particularly of the second, seventh, and eighth nerves. Hydrocephalus may occur, probably in association with a narrowed foramen magnum. Dentition is delayed, and the teeth are small.‘O The adult form of osteopetrosis is also called benign or tarda and is compatible with normal survival.5 These patients may be asymptomatic or may have fractures, cranial nerve compression, bone pain, or osteomyelitis.” There are variations within the two general types. Horton et al7 describe two children with a mild recessive form of osteopetrosis. Lovisetto et alI2 suggest that there are two adult varieties of osteopetrosis. One is a malignant form that has the same clinical picture as the childhood type but that occurs at an advanced age. The other adult form is a benign form that is usually asymptomatic until an advanced age, sometimes as late as age 65. Allogenic bone marrow transplantation appears to be the treatment of choice in the usually fatal infantile malignant form of osteopetrosis. No therapy for the milder forms of the disease has been successful.
Radiographic Appearance of Osteopetrosis The skeletal manifestations of the adult and juvenile forms of osteopetrosis are similar. Bones are massive in appearance, but with a consistency and strength more like that of chalk than of marble. The homogenous radiographic appearance of the bones is diagnostic. Few landmarks, except the growth plates, are easily identifiable. The cortex is poorly defined. The medullary cavity is thinned or absent.13 A pattern of trabecular organization cannot be discerned. The vertebrae may be uniformly dense or have a “sandwich” appearance in which there are segments of increased density above and below separated by a band of more translucent bone. Metacarpals and phalanges may show a “bone within a bone”
Raymond M. Fish
130
appearance. Occasionally the ilium may have arcuate bandslo All other bones in the body are dense and sclerotic, with no distinctions between cortical and cancellous bone.14 This uniform total body involvement is the main feature that differentiates osteopetrosis from other bone diseases.
Differential Diagnosis of Dense Bones The differential diagnosis of dense bones includes malignancy, old trauma, and several types of chronic poisoning. Differential diagnosis also includes a variety of diseases of congenital or unknown etiologies, including osteopetrosis and Paget’s disease. Paget’s disease (osteitis deformans) is a condition that affects approximately 3% of the population over the age of 40 years. It is usually a locahzed process in one or a few regions of the skeleton. Occasionally it is widespread and severe, producing extensive osseous deformity. Local pain and tenderness are frequently present at an affected skeletal site. Increasing bone size may produce clinical findings, such as enlarging head size and genu varum. The sclerotic bone is characterized by a mosaic pattern of “cement lines” joining areas of lamellar bone: Osteosclerotic (and osteoporotic) metastases from various types of malignancies are common. Less well known is the periosteal proliferation (secondary hypertrophic osteoarthropathy) associated with many neoplastic and nonneoplastic processes, but most commonly with bronchogenic carcinoma. The findings are commonly bilateral and symmetric, affecting predominantly the extremities. Chronic vitamin A poisoning can cause radiographic signs. These signs are seen most often in children, usually near the end of the first year of life. One sees cortical thickening of the tubular bones, usually associated with soft-tissue nodules. As in cases of acute poisoning, increased intracranial pressure can occur. Occasionally there is widening of the sutures with elongation of the head, hyperostosis in the
occipital and temporal bones, and ventricular enlargement. One of the most well-recognized changes associated with ingestion, inhalation, or injection of lead or other heavy metals is the appearance of radiodense lines at the ends of tubular bones or along the contours of flat and irregular bones. One cannot make the diagnosis of heavy-metal poisoning from x-ray alone, however, since opaque transverse lines extending across the metaphyses of tubular bones occur commonly in children and adults who have not been poisoned. These lines have been called transverse, stress, Park, or Harris lines. They may be due to periods of slowed growth followed by a recovery period. These dense bands may suggest episodes of trauma, infection, poor nutrition, or heavy-metal poisoning. Chronic fluorine intoxication, fluorosis, arises when the drinking water contains fluoride in concentrations of more than 4 parts per million. This occurs endemically in certain geographical areas, especially in India. Fluorosis can also occur in laboratory personnel who have inhaled fluorine vapors and in individuals who habitually drink fluorine-containing wine (wine fluorosis). In skeletal fluorosis, involvement of the axial skeleton is characteristic, with major changes usually being in the spine, pelvis, and ribs. Although osteopenia can appear initially, particularly in children, osteosclerosis usually appears first. Increasing trabecular condensation eventually creates a radiodense or chalky appearance throughout the thorax, vertebral column, and pelvis with obscuration of bony architecture.
Conclusions Although osteopetrosis is a rare condition, this case report illustrates several relevant points. First, the rule of multiple trauma applies (as always): One must look for multiple injuries. A peritoneal lavage was indicated because of lack of sensation in the abdomi-
131
Osteopetrosis
nal region. X-rays of the chest and pelvis were indicated despite lack of signs or symptoms suggesting fractures in those areas. Second, knowledge of the patient’s usual hematocrit (27%) might have avoided an unnecessary transfusion. If possible, blood and other fluids should be administered, taking into account the patient’s clinical status (blood pressure and pulse), knowledge of previous hematocrit, and observations of ongoing losses. The fact that the patient was to be transferred to another hospital an hour away, however, makes the decision to transfuse seem reasonable even in retrospect. Similar considerations apply in cases involving sickle cell anemia, chronic renal failure, and other conditions in which chronic anemia is present. Third, in patients with an enlarged liver or spleen, a peritoneal lavage might best be performed in the mid right or left lower quadrant. This procedure can be done by dissecting through the abdominal wall musculature under direct vision. This procedure will avoid damage to the enlarged liver or spleen. A fourth point illustrated by this case is
that patients do not always have pain associated with their fractures. This patient had no neck pain, though he was complaining of shoulder pain. Emergency physicians see painless fractures most often in patients who have been drinking alcohol (not the situation in this case). Actually, there are several situations in which patients have no pain associated with their fractures. Such situations involve patients with drug usage (especially alcohol), pains elsewhere which are more severe, spinal cord injuries, neuropathies, conversion reactions, and organic brain syndromes caused by hypoxia, hypoglycemia, hypotension, seizures, or cerebral vascular accidents. Thus, fractures may be overlooked in many different types of patients. Finally, this case illustrates that careful handling of the trauma victim can prevent further deterioration of the patient’s condition. The patient had fractures of Cl through C6. He is still able to breathe on his own without assistance from a respirator. If the patient had been handled improperly, he probably would have lost the ability to breathe without assistance.
REFERENCES 1 Coccia PR, Krivit W, Jaroslav C, et al: Successful bone marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980; 302: 701-708. 2. Shapiro F, Glimcher MJ, Holtrop ME, et al: Human osteopetrosis. J Bone Joint Surg Am Apr 1980; 62-A:384-389. 3. Patterson CR: Metabolic Disorders of Bone. Boston, Blackwell Scientific Publications, 1974. 4. Marks SC, Walker DC: Mammalian osteopetrosis-a model for studying cellular and humoral factors in bone resorption, in Bourne GH (ed): The Biochemistry and Physiology of Bone, Vol IV, Calcifications and Physiology. Academic Press, San Diego, 1976; 227-483. 5. Johnston CC, Lavy N, Lord T, et al: Osteopetrosis: A clinical genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine(Baltimore), 1968; 47:2, 149-167. 6. Whyte MP, Murphy WA, Fallon MC, et al: Osteopetrosis, renal tubular acidosis, and basal ganglia calcification in three sisters. Am JA4ed 1980; 69~67-74. 7. Horton WA, Schimke RN, Iyama T: Osteopetrosis further heterogeneity. JPediatr 1980; 97:580585.
8. Reeves JD, Huffer WE, August CS: The hematopoietic effects of prednisone therapy in four infants with osteopetrosis. J Pediatr 1979; 94:2, 210-214. 9. Lehman RA, Reeves JD, Wilson WB, Wesenber RL: Neurological complications of infantile osteopetrosis. Ann Neural 1977; 2:5, 378-384. 10. Wynne-Davies R, Fairbank TJ: Fairbank’s Atlas of General Affections of the Skeleton. New York, Churchill Livingstone, 1976. 11. Steendijk R: Metabolic bone disease in children, in Aviola LV and Krane SM (eds): Metabolic Bone Disease. Academic Press, San Diego 1978; 683787 12. Lovisetto P, Barese V, Marchi L: Essay on the present clinical and nosographical aspects of osteopetrosis. Panminerva Med 1978; 20:213-222. 13. Robbins SL, Cotron RS: Pathologic Basis of Disease. Philadelphia, WB Saunders, 1979; 14811482. 14. Cohen J: Osteopetrosis. Case report, autopsy findings, and pathological interpretation: failure of treatment with vitamin A. J Bone Joint Surg AM Ott 1951; 33-A 4:923-939.