EuropeanJoumalof
Eur. J. Pediatr. 129, 133--138 (1978)
Pediatrncs 9 by Springer-Verlag 1978
Case Reports Recurrent Exertional Rhabdomyolysis and Stunted Growth* R. C. A. Sengers, A. M. Stadhouders, J. M. F. Trijbels, and H. H. J. Jaspar Departments of Paediatrics, Submicroscopic Morphology and Neurology, University of Nijmegen, Nijmegen, The Netherlands
Abstract. A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he noted bouts of pigmenturia associated with episodes of considerable malaise. The change in color of the urine was caused by myoglobin. An electromyogram was myopathic. CPK rose during 60 minutes mild exercise. Prolonged moderate exercise could not be performed. Histopathological examination of muscle biopsy revealed an increase in the number of 11 C fibres (20%). Electronmicroscopy revealed the wavy outline of a number of fibres and hypertrophy of sarcoplasmic reticulum elements. No cause for the stunted growth could be detected. Key words: Rhabdomyolysis - Myoglobinuria - Dwarfism - Myopathy.
Introduction Rhabdomyolysis may occur in normal men, provided they are under sufficient physical stress (Demos et al., 1974). In contrast to the extreme degree of exercise required to elicit rhabdomyolysis in normal subjects, comparatively minor muscular work may lead to myoglobinuria in patients with myopathies (Rowland and Penn, 1972). Myoglobinuria has been found in association with various abnormalities of glycogen and lipid metabolism. Myoglobinuria has also been detected in diseases in which the specific metabolic defect has not been identified. Furthermore there are a great number of sporadic causes of myoglobinuria ( R o b o t h a m and Haddow, 1976). Stunted growth has frequently been reported in association with hereditary muscle diseases (Van Wijngaarden et al., 1967; D'Agostino et al., 1968; Karpati et * We wish to thank Dr. S. L. H. Notermans and Dr. H. M. Vingerhoets for performing the EMG studies. The authors are greatly indebted to Miss M. de Bruijn for her skilful technical assistance. This study was supported by a grant from the Prinses Beatrix Fonds Address for offprint requests: Dr. R. C. A. Sengers, Dept. of Paediatrics, University of Nijmegen, Nijmegen, The Netherlands
0340-6199/78/0129/0133/$01.20
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al., 1973, 1975; T a r l o w et al., 1973; M c L e o d et al., 1975; S h a p i r a et al., 1975; S e n g e r s et al., 1976). H o w e v e r , it has n o t b e e n r e g u l a r l y r e p o r t e d in p a t i e n t s w i t h r h a b d o m y o l y s i s . I n this r e p o r t w e d e s c r i b e the clinical, b i o c h e m i c a l a n d m o r p h o l o g i c a l f i n d i n g s in a p a t i e n t w i t h r e c u r r e n t e x e r t i o n a l r h a b d o m y o l y s i s a n d s t u n t e d g r o w t h . A t h o u r o u g h s e a r c h o f the l i t e r a t u r e d i d n o t u n c o v e r a n y o t h e r r e p o r t s o f p a t i e n t s w i t h this c o m b i n a t i o n o f clinical, b i o c h e m i c a l a n d m o r p h o l o g i c a l signs.
Case History The patient, a boy (M. M., 17.4. 63) was born to a 34 year-old III-parous healthy mother after a 38-week pregnancy and uneventful delivery. Fetal movements were fewer than in her preceding pregnancies. Because of low birth weight (1.900 g) and hypothermia, he was admitted to a local clinic. After discharge at 8 weeks, there were feeding difficulties due to fatigability. He was readmitted at 6 months because of failure to thrive. He improved very gradually albeit that he always experienced easy fatigability and he had to be carried frequently even when walking short distances. Nevertheless, his developmental milestones were nearly normal. At the age of 7 years he had an episode of marked malaise, abdominal pain, extreme weakness and pigmenturia. There wfis no additional history of renal disease. From that age onward he had approximately 8 bouts of pigmenturia with identical symptoms which always remitted after a few days. In the various attacks there was no clearcut relationship with ingestion of drugs or exposure to cold, but there was probably a relationship with prolonged exercise. Because of the history of pigmenturia he was admitted to our clinic at the age of 10 ly12years. His height was 133 cm (below third percentile) and his weight was 26.7 kg. The head circumference was 53 cm. Ventilation was normal. On cardiologic examination an insignificant murmur was heard. Pulsations of peripheral arteries were normal and blood pressure was 115/70 mm Hg. Electrocardiogram showed no abnormalities. X-ray of the chest did not reveal cardiomegaly. Neurological examination revealed no abnormalities. The following laboratory studies gave normal results: E.S.R., complete blood counts, serum electrolytes, Astrup values, cholesterol, liver function tests, urea nitrogen, creatinine, fasting blood sugar, creatinephosphokinase (CPK), glutamic-oxaloacetic acid transaminase (GOT), lactate dehydrogenase (LDH), glutamic-pyruvic acid transaminase (GPT), leucine aminopeptidase (LAP), gamma glutamyl-transpeptidase (yGT), serum protein electrophoresis and immunoelectrophoresis, thyroxine, growth hormone, cortisol. Bleeding and clotting times, thrombotest, prothrombin consumption test, Coombs' test, Donath Landsteiner test, Acid Ham test, and the sucrose test were also normal. Urinanalysis and 24-hours urinary 17-hydroxycorticosteroids, 17-ketosteroids, a-amino leavulinic acid, porphobilinogen, uroporphyrin and coproporphyrin analyses revealed normal results. Urea and creatinine clearances, an ammonium chloride loading test, and intravenous pyelography were normal. He was discharged after a fortnight, but readmitted during a following bout ofpigmenturia at the age of 12.5 years (height 142 em). He appeared to be ill but examination revealed no further abnormalities. The color change of the urine lasted for less than 24 hours. A haemoglobin value of 8.4 mmol/1 was found. Serum enzyme determinations gave the following results (normal values in brackets): CPK 216 U/1 (< 14); LDH 384 U/1 (< 200); GOT 192 U/I (
Eur. J. Pediatr. 129, 133--138 (1978)
Pediatrncs 9 by Springer-Verlag 1978
Case Reports Recurrent Exertional Rhabdomyolysis and Stunted Growth* R. C. A. Sengers, A. M. Stadhouders, J. M. F. Trijbels, and H. H. J. Jaspar Departments of Paediatrics, Submicroscopic Morphology and Neurology, University of Nijmegen, Nijmegen, The Netherlands
Abstract. A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he noted bouts of pigmenturia associated with episodes of considerable malaise. The change in color of the urine was caused by myoglobin. An electromyogram was myopathic. CPK rose during 60 minutes mild exercise. Prolonged moderate exercise could not be performed. Histopathological examination of muscle biopsy revealed an increase in the number of 11 C fibres (20%). Electronmicroscopy revealed the wavy outline of a number of fibres and hypertrophy of sarcoplasmic reticulum elements. No cause for the stunted growth could be detected. Key words: Rhabdomyolysis - Myoglobinuria - Dwarfism - Myopathy.
Introduction Rhabdomyolysis may occur in normal men, provided they are under sufficient physical stress (Demos et al., 1974). In contrast to the extreme degree of exercise required to elicit rhabdomyolysis in normal subjects, comparatively minor muscular work may lead to myoglobinuria in patients with myopathies (Rowland and Penn, 1972). Myoglobinuria has been found in association with various abnormalities of glycogen and lipid metabolism. Myoglobinuria has also been detected in diseases in which the specific metabolic defect has not been identified. Furthermore there are a great number of sporadic causes of myoglobinuria ( R o b o t h a m and Haddow, 1976). Stunted growth has frequently been reported in association with hereditary muscle diseases (Van Wijngaarden et al., 1967; D'Agostino et al., 1968; Karpati et * We wish to thank Dr. S. L. H. Notermans and Dr. H. M. Vingerhoets for performing the EMG studies. The authors are greatly indebted to Miss M. de Bruijn for her skilful technical assistance. This study was supported by a grant from the Prinses Beatrix Fonds Address for offprint requests: Dr. R. C. A. Sengers, Dept. of Paediatrics, University of Nijmegen, Nijmegen, The Netherlands
0340-6199/78/0129/0133/$01.20
134
R . C . A . Sengers et al.
al., 1973, 1975; T a r l o w et al., 1973; M c L e o d et al., 1975; S h a p i r a et al., 1975; S e n g e r s et al., 1976). H o w e v e r , it has n o t b e e n r e g u l a r l y r e p o r t e d in p a t i e n t s w i t h r h a b d o m y o l y s i s . I n this r e p o r t w e d e s c r i b e the clinical, b i o c h e m i c a l a n d m o r p h o l o g i c a l f i n d i n g s in a p a t i e n t w i t h r e c u r r e n t e x e r t i o n a l r h a b d o m y o l y s i s a n d s t u n t e d g r o w t h . A t h o u r o u g h s e a r c h o f the l i t e r a t u r e d i d n o t u n c o v e r a n y o t h e r r e p o r t s o f p a t i e n t s w i t h this c o m b i n a t i o n o f clinical, b i o c h e m i c a l a n d m o r p h o l o g i c a l signs.
Case History The patient, a boy (M. M., 17.4. 63) was born to a 34 year-old III-parous healthy mother after a 38-week pregnancy and uneventful delivery. Fetal movements were fewer than in her preceding pregnancies. Because of low birth weight (1.900 g) and hypothermia, he was admitted to a local clinic. After discharge at 8 weeks, there were feeding difficulties due to fatigability. He was readmitted at 6 months because of failure to thrive. He improved very gradually albeit that he always experienced easy fatigability and he had to be carried frequently even when walking short distances. Nevertheless, his developmental milestones were nearly normal. At the age of 7 years he had an episode of marked malaise, abdominal pain, extreme weakness and pigmenturia. There wfis no additional history of renal disease. From that age onward he had approximately 8 bouts of pigmenturia with identical symptoms which always remitted after a few days. In the various attacks there was no clearcut relationship with ingestion of drugs or exposure to cold, but there was probably a relationship with prolonged exercise. Because of the history of pigmenturia he was admitted to our clinic at the age of 10 ly12years. His height was 133 cm (below third percentile) and his weight was 26.7 kg. The head circumference was 53 cm. Ventilation was normal. On cardiologic examination an insignificant murmur was heard. Pulsations of peripheral arteries were normal and blood pressure was 115/70 mm Hg. Electrocardiogram showed no abnormalities. X-ray of the chest did not reveal cardiomegaly. Neurological examination revealed no abnormalities. The following laboratory studies gave normal results: E.S.R., complete blood counts, serum electrolytes, Astrup values, cholesterol, liver function tests, urea nitrogen, creatinine, fasting blood sugar, creatinephosphokinase (CPK), glutamic-oxaloacetic acid transaminase (GOT), lactate dehydrogenase (LDH), glutamic-pyruvic acid transaminase (GPT), leucine aminopeptidase (LAP), gamma glutamyl-transpeptidase (yGT), serum protein electrophoresis and immunoelectrophoresis, thyroxine, growth hormone, cortisol. Bleeding and clotting times, thrombotest, prothrombin consumption test, Coombs' test, Donath Landsteiner test, Acid Ham test, and the sucrose test were also normal. Urinanalysis and 24-hours urinary 17-hydroxycorticosteroids, 17-ketosteroids, a-amino leavulinic acid, porphobilinogen, uroporphyrin and coproporphyrin analyses revealed normal results. Urea and creatinine clearances, an ammonium chloride loading test, and intravenous pyelography were normal. He was discharged after a fortnight, but readmitted during a following bout ofpigmenturia at the age of 12.5 years (height 142 em). He appeared to be ill but examination revealed no further abnormalities. The color change of the urine lasted for less than 24 hours. A haemoglobin value of 8.4 mmol/1 was found. Serum enzyme determinations gave the following results (normal values in brackets): CPK 216 U/1 (< 14); LDH 384 U/1 (< 200); GOT 192 U/I (
