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SUMMARY Two girls and their mother with multicore myopathy are described. The cores consisted of Z band disorganisation and decreased or absent enzyme activity. Only one case has clinical signs of myopathy. Muscle enzyme activity was elevated in the two children. The mode of inheritance was autosomal dominant.The first case of benign congenital nonprogressive myopathy with multiple cores was reported in 1966 by AG Engel.' Histochemical and electron microscopic studies in this and subsequent case reports2-7 revealed strikingly similar patterns. Three additional cases-two girls and their mother-are now described. They present some particular features: creatinekinase activity was elevated in the two children, the severity of clinical signs and histological changes varies in the three cases and the mode of inheritance seems to be autosomal dominant, in contrast with previous case reports. Case reportsCase I A five-year-old girl presented in 1977 with complaints of excessive muscular fatiguability of the lower legs and cramps in the calves, the latter disappearing when standing on tiptoe. Pregnancy and birth (in June 1972) were uneventful. Birth weight was 3200 g. Motor development was normal; she sat at 6 months and walked at the age of 1 year. When she was 4 years old she became unable to walk long distances because of muscular fatiguability. At school, gym lessons had to be missed for the same reason, During the last year (1980)(1981)

SUMMARY Two half-sisters aged 14 and 18 years are described with a rigid spine syndrome as the cardinal clinical feature of an autosomal dominant neuromuscular disorder. Ten years previously, a diagnosis of multicore disease had been made from the clinical signs and muscle biopsy findings. Long term follow-up revealed a non-specific muscular dystrophy with axial predominance and a rigid spine in the younger girl; the older sister presented at the age of 18 with a rigid spine as the only myopathic sign. Computed tomography of the muscles showed severe involvement of the paraspinal musculature, in contrast with either less or no involvement of the other muscles. We describe two half-sisters who were thought initially to have a non-progressive autosomal dominant multicore myopathy. After a 9 year follow up, both girls eventually displayed the clinical features of the rigid spine syndrome, and the younger sister also showed evidence of aspecific muscular dystrophy. The diagnostic contribution of CT scanning of the muscles is stressed, as this appears not to have been mentioned in previous reports of this syndrome. Case 1 was born at term in 1972; there were no feeding problems and motor development was normal without apparent floppiness. First examination was in 1977 for excessive muscle fatigue. The girl was very small, with general slight muscle hypotrophy and weakness, MRC grade 4+, except for the foot extensors which displayed a more pronounced paresis, MRC grade 3. Winged scapula and ankle contracture were present bilaterally. All myotatic reflexes were either hypoactive or absent. There was no sensory disturbance. The serum creatine kinase activity (CK) was slightly increased at three times the normal value and the previously described biopsy findings of the quadriceps muscle25 were consistent with multicore disease.Further clinical progression unexpectedly occurred in the summer of 1982: she then presented with diffuse and substantial muscle atrophy; the musculature of the trunk and the extremities was diffusely paretic (MRC grade 4), and even more severe weakness (MRC grade 3) was noted in the neck flexors and the foot extensors. There was increased dorsal kyphosis and lumbar lordosis; flexion of the thoracolumbar spine was markedly limited and an obvious contracture of the neck extensors was now present; there was no increase of the ankle contracture. A repeated biopsy of the right quadriceps muscle showed randomly distributed and irregular cores with absence of mitochondria and Z-band smearing or disruption. However, additional abnormalities consisted of muscle dystrophic signs including fibre splitting, some necrotic and a few basophilic fibres, many internal nuclei and increased endomysial fibrosis. There was a fibre 1 predominance of 60% (fig la).Six months later, CT of the muscles revealed areas of very low attenuation in the erectores spinae, consistent with replacement of muscle by lipofibrotic tissue. It was striking that the paravertebral musculature was much more involved than the muscles of the e...

An 18-year-old negroid woman presented with progressive cramps in both hands. She was Jamaican and had moved to The Netherlands 8 months before. On physical examination Trousseau's sign was positive. Laboratory analysis showed severe hypocalcaemia (1.17 mmol/L) and hyperphosphatemia (2.0 mmol/L). Urinary excretion of both calcium (0.8 mmol/day) and phosphate (5 mmol/day) was low, as is seen in hypoparathyroidism. However, the PTH level was increased (22.1 pmol/L), whereas 25-(OH)-vitamin D was low (31 nmol/L). An Ellsworth-Howard test showed only a fivefold increase in urinary phosphate excretion after administration of synthetic PTH, supporting the diagnosis pseudohypoparathyroidism. Upon treatment with calcium supplementation and alfacalcidol, her symptoms disappeared. Pseudohypoparathyroidism (PHP) is a rare hereditary disorder resembling hypoparathyroidism, although plasma PTH levels are elevated. PHP is caused by alterations in the PTH receptor, inducing target tissue resistance to PTH. This results in hypocalcaemia and hyperphosphatemia, while PTH levels are elevated. The diagnosis is confirmed by the Ellsworth-Howard test, which will show a 100-fold increase in phosphate excretion if the PTH receptor functions properly. Treatment is lifelong supplementation of calcium and alfacalcidol. In our patient, symptoms were probably evoked by the lack of sunlight in Dutch winter, decreasing vitamin D levels and thereby aggravating hypocalcaemia.