SUMMARY:A five-year-old boy succumbed 24 days following an unusual farm accident in which considerable manure was deposited in multiple lacerations.Death was due to an extensive meningo-encephalomyelitis caused by a nematode that is ordinarily saprophagous.
We report 14 cases of a severe familial leukoencephalopathy among native North American Indian infants in northern Quebec and Manitoba. Affected infants have hypotonia and mild motor delay, followed by seizures, hypotonia or spasticity, eye deviation, and abnormal posture during a febrile illness around 6 months of age. Death follows a rigid, vegetative state that manifests days to months after disease onset and is marked in some cases by prominent autonomic disturbances, blindness, and cessation of head growth. Symmetrical hemispheric white matter lucencies and diffuse hypomyelination of the cerebral hemispheres and brainstem are the radiological and pathological hallmarks. This disease differs from the known diseases of cerebral myelin. An autosomal recessive pattern of inheritance awaits statistical confirmation. The proposed cause is a delay in development or abnormal turnover of central nervous system myelin.
Three children with hypophosphatasia also had muscle pains, stiffness, and symptoms of proximal lower limb muscle weakness that occurred early in the disorder and were the presenting features in two. A non-progressive myopathy may be an important sign of hypophosphatasia. This child was first seen at another hospital at the age of 2 5 years because of delayed motor activity milestones, difficulty in walking, and inability to climb stairs; he had mild proximal muscle weakness. Electromyographic examination suggested a muscle disorder and he was thought to have a congenital myopathy. A diagnosis of hypophosphatasia was subsequently made because of abnormal dentition, low serum alkaline phosphatase activity, and severe osteopenia on radiography. We saw him at the age of 5 5 years at which time the motor symptoms were unchanged. In addition, he also complained of pain and stiffness in the leg muscles, more pronounced in the mornings and during cold weather. On examination his height, weight, and head circumference were at the 10th, 5th, and 60th percentiles, respectively, as they had been on previous measurements. He had mild (grade 4/5) proximal muscle weakness, a waddling gait, and difficulty in getting off the floor and in climbing up stairs. The muscles were not tender. Deep tendon reflexes were normal. Serum creatine kinase activity was normal on several occasions. Electromyography showed minor abnormalities compatible with a myopathy. Motor and sensory nerve conduction studies were normal.When last seen at the age of 9 5 years he still had difficulty in climbing stairs and mild proximal muscle weakness. Muscle pains were no longer severe. CASE 2 This boy was first seen at the age of 9-5 years because of severe pains in the muscles of his lower limbs. He had had difficulty in walking and climbing stairs since early childhood. On examination his head circumference, height, and weight were at the 75th percentile. He had mild (grade 4/5) proximal muscle weakness, and a waddling gait. He had difficulty in getting off the floor and in climbing up stairs. Deep tendon reflexes were normal. There was no muscle tenderness. Serum creatine kinase activity was normal on several occasions. He had the characteristic radiological and biochemical findings of hypophosphatasia. Electromyography at the ages of 9-5 and 12 years suggested a myopathy. Motor and sensory nerve conduction studies were normal. The muscle pains became less severe when he was about 13 years old, although mild proximal muscle weakness persisted. He was last seen at the age of 17. He no longer had pain, but continued to have difficulty in going up stairs. CASE 3 This boy was referred for neurological assessment at the age of 3 years because of an awkward gait and muscle pains. His limbs had been floppy when he was an infant. He started to walk when he was 13 months old. He subsequently had difficulty in arising from the floor, and climbing up stairs without support. He was not able to run. He had also been complaining of pain and stiffness in ...
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