Dominant Findings
Osteopetrosis
in a 12-Year-Old
Boy
Leon F. Kukla, M.D.*
OSTEOPETROSIS
is a very rare bone characterized by failure of resorption and persistence of calcified chondroid. The disease was first described by a German radiologist, Albers-Sch6nberg, in a 26-yearold man in 1904.’ Approximately 300 cases have been reported in the world literature, divided almost equally between the dominant and recessive varieties. Ghormley generally is credited with reporting the first documented case of a dominant inheritance; he reported a father and son with mild involvement.2 In an extensive review, Johnston demonstrated the significance of dividing the disease into a dominant (benign) and recessive (malignant) varieties. 3 In a literature survey and analysis of some 85 individuals in 19 families in several generations, his data support the concept that the benign variety is a dominant inheritance, has an onset in later childhood or adult life and is characterized by the lack of complications. In contrast, the malignant variety appears to be recessive with retardation in growth and development, complications such as anemia and other manifestations of myelofibrosis, fractures, infection (osteomyelitis), cranial nerve pressure secondary to bone overgrowth leading particularly to blindness, deafness and facial nerve palsy, and death in early childhood. One of the notable features of the malignant variety is the strong presence of consanguinity.
dysplasia
* Assistant Professor of Pediatrics, Preventive Medicine, and Community Health, College of Medicine and Dentistry of New Jersey, Martland Hospital, 65 Bergen Street, Newark, NJ 07107
‘
There can be a broad spectrum of presentations because of variable penetrance and so the distinction between dominant and recessive is not always clear.4 Although other anomalies and defects have been reported in association with osteopetrosis, such as mental retardation, renal tubular acidosis, 5,6 and aminoaciduria, these findings appear to be coincidental rather than a part of the primary disease or a defined syndrome.
Case
History J.R., a 12-year-old Spanish boy, came to our emergency room with a 2-day history of pain in his left hip. He had had a sitmilar episode of pain in this hip three months earlier, after trauma, but the pain resolved spontaneously and medical .
attention was. not sought. There was. no known trauma with the present episode, and no other associated symptoms. His past history was negative for fracture, significant illness, or hospitalization and no prior radiologic examination had been performed. The maternal family history was negative for any evidence of similar disease; no paternal history was available. The patient was the only child of this marriage; the mother has subsequently remarried and the father is not available. On examination he was well developed, weighing 96 lb. and 63W inches in height. There were no gross dysplastic features or other abnormal findings except for pain on palpation over the left iliac bone and minimal limitation of motion in the left hip. Radiologic examination of the hip revealed dense bone. Further radiologic studies revealed classic findings of osteopetrosis except that the skull was not involved and the hands had minimal involvement. Figures 1,2, and 3 illustrate classic findings in the vertebrae, hip, and lower extremities. Laboratory studies were within normal limits, with the exception of a mild elevation of alkaline and acid phosphatase.
846
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FIG. 1.
Radiographic changes c~f dense bone in vertebrae, ~fvis~ and femur. Follow-,tip. Because the patient was having
in school, ENT and ophthalmology consultations were obtained. Audiogram and tympanometry were within normal limits. He did have a mild refractive error for which
difficulty
FIG. 3. Lateral view out vertebrae demonstrating dense bone and &dquo;sandwiching effect.&dquo;
corrective lenses were prescribed. Although we were not able to investigate the paternal side of the family, this child fits into a dominant variety with late onset, lack of symptoms and an elevated serum acid phosphatase. Since he is asymptomatic, no treatment has been initiated, although various forms of therapy have been tried with others, including manipulation of serum calcium and phosphate and the use of steroids. Serum acid phosphatase has been reported elevated, particularly in the dominantS.7,’ References 1.
Albers-Schönberg, H.: Röntgenbilder einer seltenen Knockenerkrankung. Munich. Med. Wochenschr. 51: 365, 1904.
Ghormley, R. K.: Congenital osteoclerosis. Bull. Johns Hopkins Hosp. 33: 444, 1922. al Osteopetro3. Johnston, C. C., Jr., Lauy, N., et .: 2.
sis. Medicine 47: 149, 1968.
4.
5.
6.
7. FIG. 2. Dense bone with decreased
marrow
femurs, tibia, and fibula.
space in
8.
Osteopetrosis in two brothers with severe mental retardation. Birth Defects 11: 91, 1975. Vainsel, M.: Osteopetrosis associated with proximal and distal tubular acidosis. Acta Paediatr. Scand. 61: 429, 1972. .: Osteopetrosis and renal tubular Guibaud, P., al et acidosis. Arch Fr. Pediatr. 29: 269, 1972. Ibid., Johnston, C. C., Jr., Lavy, N., et al ., p. 155. Siggers, D.: Dominant Osteopetrosis. Birth Defects 10: 501, 1974. Funderburk, S. J.:
847
Downloaded from cpj.sagepub.com at UNIVERSITE DE MONTREAL on June 16, 2015
Osteopetrosis
in a 12-Year-Old
Boy
Leon F. Kukla, M.D.*
OSTEOPETROSIS
is a very rare bone characterized by failure of resorption and persistence of calcified chondroid. The disease was first described by a German radiologist, Albers-Sch6nberg, in a 26-yearold man in 1904.’ Approximately 300 cases have been reported in the world literature, divided almost equally between the dominant and recessive varieties. Ghormley generally is credited with reporting the first documented case of a dominant inheritance; he reported a father and son with mild involvement.2 In an extensive review, Johnston demonstrated the significance of dividing the disease into a dominant (benign) and recessive (malignant) varieties. 3 In a literature survey and analysis of some 85 individuals in 19 families in several generations, his data support the concept that the benign variety is a dominant inheritance, has an onset in later childhood or adult life and is characterized by the lack of complications. In contrast, the malignant variety appears to be recessive with retardation in growth and development, complications such as anemia and other manifestations of myelofibrosis, fractures, infection (osteomyelitis), cranial nerve pressure secondary to bone overgrowth leading particularly to blindness, deafness and facial nerve palsy, and death in early childhood. One of the notable features of the malignant variety is the strong presence of consanguinity.
dysplasia
* Assistant Professor of Pediatrics, Preventive Medicine, and Community Health, College of Medicine and Dentistry of New Jersey, Martland Hospital, 65 Bergen Street, Newark, NJ 07107
‘
There can be a broad spectrum of presentations because of variable penetrance and so the distinction between dominant and recessive is not always clear.4 Although other anomalies and defects have been reported in association with osteopetrosis, such as mental retardation, renal tubular acidosis, 5,6 and aminoaciduria, these findings appear to be coincidental rather than a part of the primary disease or a defined syndrome.
Case
History J.R., a 12-year-old Spanish boy, came to our emergency room with a 2-day history of pain in his left hip. He had had a sitmilar episode of pain in this hip three months earlier, after trauma, but the pain resolved spontaneously and medical .
attention was. not sought. There was. no known trauma with the present episode, and no other associated symptoms. His past history was negative for fracture, significant illness, or hospitalization and no prior radiologic examination had been performed. The maternal family history was negative for any evidence of similar disease; no paternal history was available. The patient was the only child of this marriage; the mother has subsequently remarried and the father is not available. On examination he was well developed, weighing 96 lb. and 63W inches in height. There were no gross dysplastic features or other abnormal findings except for pain on palpation over the left iliac bone and minimal limitation of motion in the left hip. Radiologic examination of the hip revealed dense bone. Further radiologic studies revealed classic findings of osteopetrosis except that the skull was not involved and the hands had minimal involvement. Figures 1,2, and 3 illustrate classic findings in the vertebrae, hip, and lower extremities. Laboratory studies were within normal limits, with the exception of a mild elevation of alkaline and acid phosphatase.
846
Downloaded from cpj.sagepub.com at UNIVERSITE DE MONTREAL on June 16, 2015
FIG. 1.
Radiographic changes c~f dense bone in vertebrae, ~fvis~ and femur. Follow-,tip. Because the patient was having
in school, ENT and ophthalmology consultations were obtained. Audiogram and tympanometry were within normal limits. He did have a mild refractive error for which
difficulty
FIG. 3. Lateral view out vertebrae demonstrating dense bone and &dquo;sandwiching effect.&dquo;
corrective lenses were prescribed. Although we were not able to investigate the paternal side of the family, this child fits into a dominant variety with late onset, lack of symptoms and an elevated serum acid phosphatase. Since he is asymptomatic, no treatment has been initiated, although various forms of therapy have been tried with others, including manipulation of serum calcium and phosphate and the use of steroids. Serum acid phosphatase has been reported elevated, particularly in the dominantS.7,’ References 1.
Albers-Schönberg, H.: Röntgenbilder einer seltenen Knockenerkrankung. Munich. Med. Wochenschr. 51: 365, 1904.
Ghormley, R. K.: Congenital osteoclerosis. Bull. Johns Hopkins Hosp. 33: 444, 1922. al Osteopetro3. Johnston, C. C., Jr., Lauy, N., et .: 2.
sis. Medicine 47: 149, 1968.
4.
5.
6.
7. FIG. 2. Dense bone with decreased
marrow
femurs, tibia, and fibula.
space in
8.
Osteopetrosis in two brothers with severe mental retardation. Birth Defects 11: 91, 1975. Vainsel, M.: Osteopetrosis associated with proximal and distal tubular acidosis. Acta Paediatr. Scand. 61: 429, 1972. .: Osteopetrosis and renal tubular Guibaud, P., al et acidosis. Arch Fr. Pediatr. 29: 269, 1972. Ibid., Johnston, C. C., Jr., Lavy, N., et al ., p. 155. Siggers, D.: Dominant Osteopetrosis. Birth Defects 10: 501, 1974. Funderburk, S. J.:
847
Downloaded from cpj.sagepub.com at UNIVERSITE DE MONTREAL on June 16, 2015
