1072
Letters
to
the Editor
ABNORMAL LOCALISATION OF GALLIUM-67 CITRATE IN PSEUDOHYPERTROPHIC MUSCULAR DYSTROPHY
SIR,-A 6-year-old girl presented with painless enlargement of the left calf. After about 15 months proportional asymmetry persisted and she began to limp and could no longer run freely. The family history was negative for muscular dystrophy. The left calf was diffusely enlarged (fig. la) and plantar flexion of the left foot was limited. The remainder of the physical examination was unremarkable except for mild obesity and height on the ninetieth percentile. Her serum-creatine-kinase (C.K.) was 811 i.u./l (normal up to 150) and 686 i.u./l 12 months later. Localisation of intravenously injected radiogallium in her left calf (fig. lb) suggested the possibility of a malignant tumour, but her clinical course and C.K. values seemed more in keeping with mild manifestations in a heterozygous carrier of X-linked pseudohypertrophic muscular dystrophy.’ Biopsy of the left soleus muscle revealed changes consistent with dystrophy, including variation in muscle-fibre size, central nuclei, degenerating and regenerating muscle fibres, split fibres, and patchy inflammatory infiltrate
(Dr T. K. Shnitka). Because no information was available on the uptake of radiogallium by dystrophic muscle, scans were done on volunteers with 6’Ga citrate (New England Nuclear) at a dose of 1.6 mCi. Imaging was done 48 h later with a Searle Radiographic ’Pho-Con’ tomographic scanner and Ohio-Nuclear dual 7-55 cm rectilinear scanner, both instruments providing similar results. Increased uptake of the tracer was seen in the calves (fig. 2) and, to some extent, in other muscles, in three unrelated boys with Duchenne muscular dystrophy. The 40-year-old mother of one of these boys, who is a definite carrier by pedigree criteria,2 had a slight increase in uptake of radiogallium in her calf muscles whereas the 33-year-old mother of a sporadic case (possible new mutation) did not. The C.K. was raised in the 1. Emery, A. E. H. Lancet, 1963, i, 1126. 2. Thompson, M. W., Murphy, E. G., McAlpine, P.
first mother and normal in the second, and neither had any clinical manifestations of dystrophy. Two brothers, aged 16 and 8 years, with an autosomal recessive form of pseudohypertrophic muscular dystrophy had abnormal scans resembling those seen in the Duchenne type. A scan on their affected 15-year-old sister was unsatisfactory because of severe joint contractures. The scan of a 22-year-old mentally retarded girl with myotonic dystrophy and advanced muscle wasting was normal, whereas her 18-year-old mentally retarded brother, who has the typical features of myotonic dystrophy and (uncharacteristically) pseudohypertrophy of the calves, showed abnormal localisation of radiogallium in his calf muscles. A 30-year-old man with the Becker type of X-linked pseudohypertrophic muscular dystrophy had abnormal localisation of radiogallium in his calves. In contrast, three male sibs aged 26, 25, and 23 with a clinically similar type of dystrophy, and their carrier mother whose C.K. was normal, had normal scans. A 37-year-old man with muscular dystrophy of unknown type affecting proximal and distal muscles and a 14-year-old boy with spinal muscular atrophy had normal scans. An unusual distribution of radiogallium was observed in a 32-year-old man with Evans’ myopathy3 whose C.K. was 1998 i.u./l. His scan showed a generalised increase in soft-tissue uptake relative to bone and localised accumulations of radioactivity in muscle, particularly the adductor muscles of the thigh. Our controls were thirty individuals (sixteen males) whose ages ranged from 2 to 40 years. Their scans, done in search of malignant neoplasm or occult infection, were selected, on the basis of the calves being included, from a total of 2286 scans. No abnormal localisation of the radiotracer was observed in muscles of any of the controls. These findings indicate an abnormal pattern of localisation of 67Ga citrate in Duchenne and some other types of dystrophy associated with pseudohypertrophy. The method may help with the diagnosis and investigation of muscle disorders, and it would be interesting to know whether the method is more sensitive than C.K.2 in the detection of female carriers of X-linked muscular dystrophies. Estimation of the ratio of uptake in soft tissue relative to bone provides a possible means of quantitation. The radiation may limit the use of the technique in women whose reproduction is incomplete, but other
J. J. Pediat. 1967, 71, 820. 3.
Fig. 1--6-year-old girl with raised serum-C.K. and biopsy findings consistent with muscular dystrophy. (a) Enlarged left calf. (b) Anterior projection 6’Ga citrate whole-body tomographic scan showing abnormal localisation of radiotracer in left calf (arrow).
King, J. A., Denborough,
M.
A., Zapf, P. W. Lancet, 1972, i, 365
Fig. 2-Lateral gamma camera scintiphotograph of calf of a 10-year-old boy with Duchenne muscular dystrophy 48 h after intravenous injection of67 Ga citrate. Diffuse uptake in soft tissues contrasts with the normally predominant
localisation of radiotracer in the skeleton.
1073 cationic radionuclides might be applicable in this context. The mechanism of localisation of radiogallium in malignant tumours, as yet unknown,4 may involve some abnormal propertv shared by dystrophic muscle. This work was supported by a grant from the Edmonton of the Imperial Order Daughters of the Empire.
Departments of Pædiatrics, Radiology, Medicine and Surgery, University of Alberta, and Dr W. W. Cross Cancer Institute, Edmonton, Alberta, Canada
Chapter
P. BOWEN B. C. LENTLE F. I. JACKSON
J. S. PERCY W. M. RIGAL
decubitus at an angle of 60 degrees for a minute. Computerised coronal planes showed satisfactory filling of the basal cisterns and subarachnoid spaces of the subfrontal region. Leakage of contrast medium could be clearly seen at the level of the fracture (see figure). The patient was operated on 3 days later; the fracture was obturated by aponeurotic tissue and temporal muscle. A follow-up examination 2 months later showed that the rhinorrhoea had disappeared. We believe that computerised metrizamide cisternography is valuable in locating the site ofc.s.F. fistula. A similar diagnostic technique has lately been proposed by Drayer et al.11 Departments of Neuroradiology, Neurology, and Neurosurgery
C. MANELFE B. GUIRAUD M. TREMOULET
C.H.U. Purpan, 31 052
DIAGNOSIS OF C.S.F. RHINORRHŒA BY COMPUTERISED CISTERNOGRAPHY USING METRIZAMIDE
SIR,-Cerebrospinal-fluid (c.s.F.) rhinorrhoea can be a difficult problem for the clinician and radiologist. It can lead to severe infections such as recurrent bacterial meningitis, and the diagnosis is not always confirmed by radiology (hypocycloidal tomography, cisternography) and isotope scans. Metrizamide is a water-soluble triiodinated, non-ionic conmedium, used in myelography and ventriculography.5 Animal studies have proved that it is well tolerated when applied to cisternography,6 and some workers have proposed its use in computerised tomography in the investigation of c.s.F. circulation’ and tumours of the base of the skull and posterior fossa. 8-10 We report a case of c.s.F. rhinorrhoea in which computerised metrizamide cisternography pointed to the exact site of fluid escape. Left-sided rhinorrhoea had started 9 years after a frontal injury in a 59-year-old male. Tomography suggested a leftsided frontoethmoidal fracture. After injection of 5 ml metrizamide (at a concentration of 190 mg iodine/ml) by lumbar puncture the patient was positioned head downward in ventral trast
Toulouse, France
ULTRASOUND FOR GENETIC COUNSELLING IN POLYCYSTIC KIDNEY DISEASE
SiR,—We have been counselling the parents of a male infant who had bilateral polycystic kidney disease type m’ at necropsy. His appearance was that of the Potter syndrome, including low-set ears, epicanthal folds, short neck, wide-spaced nipples, short phalanges of the hands, bilateral dislocated hips, and bilateral club feet. He had severe respiratory distress and died six hours after birth. Chromosome analysis revealed a normal male karyotype. The family history was negative for miscarriages, stillbirths, congenital anomalies, or kidney disorders. It was suggested that the mother (age sixteen) and the father (age nineteen) should have their kidneys evaluated. We hesitated to suggest intravenous pyelography, an invasive technique, so we recommended nephrosonography, as suggested for the evaluation of clinically normal relatives of infants with renal agenesis.2 Nephrosonograms of one kidney from each 11. Drayer,
B. P.,
Wilkins,
R.
H., Boehnke, M., Horton, J. A. Rosenbaum,
A E
1
Am. J Roentgenol. 1977, 129, 149. Potter, E L., Craig, J. M. Pathology of the Chicago, 1975
Fetus and the
Infant, p. 452.
2 Zonana,
J, Rimoin, D. L, Hollister, D W., Lachman, R. S., Sarti, D A., Kaback, M M Pediat Res 1976, 10, 420.
Hayes, R. L. J. nucl. Med. 1977, 18, 640. 5. Acta radiol 1973, suppl. no. 335 6. Grepe, A., Widen, L. ibid. p. 102. 7. Greitz, T., Hindmarsh, T. ibid. 1974, 15, 497. 8 Grepe, A., Greitz, T., Noren, G. ibid. suppl. no. 346, p. 91. 9. Drayer, B P., Rosenbaum, A E. Lancet, 1976, 736. 10. Roberson, G. H., Taveras, J. M., Tadmor, R., Kleefield, J., Ellis, put assist Tomogr. 1977, 1, 241. 4.
G. J. Com-
Sonograms of kidneys
Computerised tomography cisternogram with metrizamide. Coronal plane showing the leakage of the contrast medium at level offrontoethmoidal fracture arrow’.
of parents of infant with
polycystic kidney
disease.
tppcr klelncB
mother’s normj) let’t kidnev. l,oB er- t.1thcr’,
po)BcBsttc nght
Letters
to
the Editor
ABNORMAL LOCALISATION OF GALLIUM-67 CITRATE IN PSEUDOHYPERTROPHIC MUSCULAR DYSTROPHY
SIR,-A 6-year-old girl presented with painless enlargement of the left calf. After about 15 months proportional asymmetry persisted and she began to limp and could no longer run freely. The family history was negative for muscular dystrophy. The left calf was diffusely enlarged (fig. la) and plantar flexion of the left foot was limited. The remainder of the physical examination was unremarkable except for mild obesity and height on the ninetieth percentile. Her serum-creatine-kinase (C.K.) was 811 i.u./l (normal up to 150) and 686 i.u./l 12 months later. Localisation of intravenously injected radiogallium in her left calf (fig. lb) suggested the possibility of a malignant tumour, but her clinical course and C.K. values seemed more in keeping with mild manifestations in a heterozygous carrier of X-linked pseudohypertrophic muscular dystrophy.’ Biopsy of the left soleus muscle revealed changes consistent with dystrophy, including variation in muscle-fibre size, central nuclei, degenerating and regenerating muscle fibres, split fibres, and patchy inflammatory infiltrate
(Dr T. K. Shnitka). Because no information was available on the uptake of radiogallium by dystrophic muscle, scans were done on volunteers with 6’Ga citrate (New England Nuclear) at a dose of 1.6 mCi. Imaging was done 48 h later with a Searle Radiographic ’Pho-Con’ tomographic scanner and Ohio-Nuclear dual 7-55 cm rectilinear scanner, both instruments providing similar results. Increased uptake of the tracer was seen in the calves (fig. 2) and, to some extent, in other muscles, in three unrelated boys with Duchenne muscular dystrophy. The 40-year-old mother of one of these boys, who is a definite carrier by pedigree criteria,2 had a slight increase in uptake of radiogallium in her calf muscles whereas the 33-year-old mother of a sporadic case (possible new mutation) did not. The C.K. was raised in the 1. Emery, A. E. H. Lancet, 1963, i, 1126. 2. Thompson, M. W., Murphy, E. G., McAlpine, P.
first mother and normal in the second, and neither had any clinical manifestations of dystrophy. Two brothers, aged 16 and 8 years, with an autosomal recessive form of pseudohypertrophic muscular dystrophy had abnormal scans resembling those seen in the Duchenne type. A scan on their affected 15-year-old sister was unsatisfactory because of severe joint contractures. The scan of a 22-year-old mentally retarded girl with myotonic dystrophy and advanced muscle wasting was normal, whereas her 18-year-old mentally retarded brother, who has the typical features of myotonic dystrophy and (uncharacteristically) pseudohypertrophy of the calves, showed abnormal localisation of radiogallium in his calf muscles. A 30-year-old man with the Becker type of X-linked pseudohypertrophic muscular dystrophy had abnormal localisation of radiogallium in his calves. In contrast, three male sibs aged 26, 25, and 23 with a clinically similar type of dystrophy, and their carrier mother whose C.K. was normal, had normal scans. A 37-year-old man with muscular dystrophy of unknown type affecting proximal and distal muscles and a 14-year-old boy with spinal muscular atrophy had normal scans. An unusual distribution of radiogallium was observed in a 32-year-old man with Evans’ myopathy3 whose C.K. was 1998 i.u./l. His scan showed a generalised increase in soft-tissue uptake relative to bone and localised accumulations of radioactivity in muscle, particularly the adductor muscles of the thigh. Our controls were thirty individuals (sixteen males) whose ages ranged from 2 to 40 years. Their scans, done in search of malignant neoplasm or occult infection, were selected, on the basis of the calves being included, from a total of 2286 scans. No abnormal localisation of the radiotracer was observed in muscles of any of the controls. These findings indicate an abnormal pattern of localisation of 67Ga citrate in Duchenne and some other types of dystrophy associated with pseudohypertrophy. The method may help with the diagnosis and investigation of muscle disorders, and it would be interesting to know whether the method is more sensitive than C.K.2 in the detection of female carriers of X-linked muscular dystrophies. Estimation of the ratio of uptake in soft tissue relative to bone provides a possible means of quantitation. The radiation may limit the use of the technique in women whose reproduction is incomplete, but other
J. J. Pediat. 1967, 71, 820. 3.
Fig. 1--6-year-old girl with raised serum-C.K. and biopsy findings consistent with muscular dystrophy. (a) Enlarged left calf. (b) Anterior projection 6’Ga citrate whole-body tomographic scan showing abnormal localisation of radiotracer in left calf (arrow).
King, J. A., Denborough,
M.
A., Zapf, P. W. Lancet, 1972, i, 365
Fig. 2-Lateral gamma camera scintiphotograph of calf of a 10-year-old boy with Duchenne muscular dystrophy 48 h after intravenous injection of67 Ga citrate. Diffuse uptake in soft tissues contrasts with the normally predominant
localisation of radiotracer in the skeleton.
1073 cationic radionuclides might be applicable in this context. The mechanism of localisation of radiogallium in malignant tumours, as yet unknown,4 may involve some abnormal propertv shared by dystrophic muscle. This work was supported by a grant from the Edmonton of the Imperial Order Daughters of the Empire.
Departments of Pædiatrics, Radiology, Medicine and Surgery, University of Alberta, and Dr W. W. Cross Cancer Institute, Edmonton, Alberta, Canada
Chapter
P. BOWEN B. C. LENTLE F. I. JACKSON
J. S. PERCY W. M. RIGAL
decubitus at an angle of 60 degrees for a minute. Computerised coronal planes showed satisfactory filling of the basal cisterns and subarachnoid spaces of the subfrontal region. Leakage of contrast medium could be clearly seen at the level of the fracture (see figure). The patient was operated on 3 days later; the fracture was obturated by aponeurotic tissue and temporal muscle. A follow-up examination 2 months later showed that the rhinorrhoea had disappeared. We believe that computerised metrizamide cisternography is valuable in locating the site ofc.s.F. fistula. A similar diagnostic technique has lately been proposed by Drayer et al.11 Departments of Neuroradiology, Neurology, and Neurosurgery
C. MANELFE B. GUIRAUD M. TREMOULET
C.H.U. Purpan, 31 052
DIAGNOSIS OF C.S.F. RHINORRHŒA BY COMPUTERISED CISTERNOGRAPHY USING METRIZAMIDE
SIR,-Cerebrospinal-fluid (c.s.F.) rhinorrhoea can be a difficult problem for the clinician and radiologist. It can lead to severe infections such as recurrent bacterial meningitis, and the diagnosis is not always confirmed by radiology (hypocycloidal tomography, cisternography) and isotope scans. Metrizamide is a water-soluble triiodinated, non-ionic conmedium, used in myelography and ventriculography.5 Animal studies have proved that it is well tolerated when applied to cisternography,6 and some workers have proposed its use in computerised tomography in the investigation of c.s.F. circulation’ and tumours of the base of the skull and posterior fossa. 8-10 We report a case of c.s.F. rhinorrhoea in which computerised metrizamide cisternography pointed to the exact site of fluid escape. Left-sided rhinorrhoea had started 9 years after a frontal injury in a 59-year-old male. Tomography suggested a leftsided frontoethmoidal fracture. After injection of 5 ml metrizamide (at a concentration of 190 mg iodine/ml) by lumbar puncture the patient was positioned head downward in ventral trast
Toulouse, France
ULTRASOUND FOR GENETIC COUNSELLING IN POLYCYSTIC KIDNEY DISEASE
SiR,—We have been counselling the parents of a male infant who had bilateral polycystic kidney disease type m’ at necropsy. His appearance was that of the Potter syndrome, including low-set ears, epicanthal folds, short neck, wide-spaced nipples, short phalanges of the hands, bilateral dislocated hips, and bilateral club feet. He had severe respiratory distress and died six hours after birth. Chromosome analysis revealed a normal male karyotype. The family history was negative for miscarriages, stillbirths, congenital anomalies, or kidney disorders. It was suggested that the mother (age sixteen) and the father (age nineteen) should have their kidneys evaluated. We hesitated to suggest intravenous pyelography, an invasive technique, so we recommended nephrosonography, as suggested for the evaluation of clinically normal relatives of infants with renal agenesis.2 Nephrosonograms of one kidney from each 11. Drayer,
B. P.,
Wilkins,
R.
H., Boehnke, M., Horton, J. A. Rosenbaum,
A E
1
Am. J Roentgenol. 1977, 129, 149. Potter, E L., Craig, J. M. Pathology of the Chicago, 1975
Fetus and the
Infant, p. 452.
2 Zonana,
J, Rimoin, D. L, Hollister, D W., Lachman, R. S., Sarti, D A., Kaback, M M Pediat Res 1976, 10, 420.
Hayes, R. L. J. nucl. Med. 1977, 18, 640. 5. Acta radiol 1973, suppl. no. 335 6. Grepe, A., Widen, L. ibid. p. 102. 7. Greitz, T., Hindmarsh, T. ibid. 1974, 15, 497. 8 Grepe, A., Greitz, T., Noren, G. ibid. suppl. no. 346, p. 91. 9. Drayer, B P., Rosenbaum, A E. Lancet, 1976, 736. 10. Roberson, G. H., Taveras, J. M., Tadmor, R., Kleefield, J., Ellis, put assist Tomogr. 1977, 1, 241. 4.
G. J. Com-
Sonograms of kidneys
Computerised tomography cisternogram with metrizamide. Coronal plane showing the leakage of the contrast medium at level offrontoethmoidal fracture arrow’.
of parents of infant with
polycystic kidney
disease.
tppcr klelncB
mother’s normj) let’t kidnev. l,oB er- t.1thcr’,
po)BcBsttc nght
