Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The metabolism of ground substance in connective tissue of an 18-year-old boy with oculo-cerebro-renal syndrome was studied. He had characteristic clinical and laboratory findings described by Lowe et al. such as growth retardation, mental deficiency, glaucoma, cataracta, decreased muscle tone, metabolic acidosis, aminoaciduria and osteomalacia. The urinary excretion of acid glycosaminoglycans and of total hydroxyproline were 27 mg/day (as glucuronic acid) and 280 mg/day respectively on admission. Both values decreased to the upper limits of normal level transiently during treatment with alkali and vitamin D2. At that time, an improvement in bone abnormalities, a decrease of serum alkaline phosphatase, and an elevation of serum inorganic phosphate were observed. The therapy prevented him from progressive osteomalacia and cured him of it, but mucopolysacchariduria and hydroxyprolinuria did not disappear. Analytical electrophoresis on cellulose acetate sheets showed that urinary acid glycosaminoglycans were composed of undersulfated chondroitin 4-/6-sulfate and heparan sulfate with a ratio of 6:4, on admission. After oral administration of alkali, the excretion of heparan sulfate decreased and undersulfated chondroitin 4-/6-sulfate was determined as a main component of urinary acid glycosaminoglycans. The clinical and laboratory data in this case suggested that the increased excretion of acid glycosaminoglycans and total hydroxyproline was caused by abnormal metabolism in connective tissues, especially by the bone abnormalities, in this syndrome.
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PMID:Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome. 73 46

We describe a girl with congenital hyperparathyroidism who presented soon after birth with respiratory distress, hypotonia, feeding difficulties, and bone deformities. Hypercalcaemia, hypophosphataemia, and raised alkaline phosphatase were present and plasma parathyroid hormone levels measured by radioassay and bioassay were raised. X-rays showed gross demineralisation with metaphyseal fractures, erosions, and sub-periostal reaction along the bones. Following surgical removal of four hyperplastic parathyroid glands and subsequent maintainance therapy with 1-alpha-hydroxycholecalciferol there has been virtually complete reversal of her bone abnormalities.
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PMID:Neonatal hyperparathyroidism. 646 29

Physiological and clinical aspects are discussed in this review on calcium-phosphate metabolism in pre-term infants. Calcium accumulation in the bone mass of the foetus is related to the gestational age, and mainly occurs during the last weeks of gestation. Therefore, after birth, hypocalcemia is more frequent in pre-term than term infants. However, clinical symptoms of hypocalcemia, e.g. attacks of apnea, hyperexcitability and hypotonia, are rarely observed. Such symptoms depend upon the serum concentration of ionized calcium and this concentration is influenced by various metabolic factors. During the first two weeks of life phosphate is elevated in comparison to later periods. In spite of sufficient vitamin D supplementation low serum phosphate levels occur due to insufficient supply of phosphate. This correlates with evidence of rickets. An increased alkaline phosphatase activity can be considered an early and sensitive indicator. Pre-term infants develop rickets more frequently than term infants due to calcium-phosphate deficiency. Vitamin D supplementation alone is insufficient and should be combined with phosphate, as had been stated previously.
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PMID:[Calcium-phosphate metabolism in pre-term infants]. 685 46

A 72-year-old woman was referred to hospital for obnubilation with general muscle weakness and hypotonia. Biology showed hypocalcemia, hypophosphatemia, increased serum creatine kinase and alkaline phosphatase levels. Brain CT scan, cerebrospinal fluid examination, and electromyogram were normal. Clinical status and electroencephalogram were consistent with non-convulsive generalized status epilepticus. The treatment included clonazepam and CaCl2 and consciousness returned to normal. A treatment with multivitamin infusion containing vitamin D2 was given for 3 weeks. Muscle weakness improved partially. Serum vitamin D3 level was low and osteomalacic myopathy was diagnosed. A treatment was given with 25OH vitamin D3, 50 micrograms per day. Two months later, serum vitamin D3 and creatine kinase levels were normal and the patient could walk without help. We conclude that vitamin D status should be monitored in elderly patients with muscle symptoms and abnormal calcium status. Osteomalacic myopathy should be considered in critically ill patients with muscle symptoms of an unclear cause.
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PMID:Muscle weakness in intensive care patients: initial manifestation of vitamin D deficiency. 770 75

A new sclerosing bone disease in two Japanese siblings born to first-degree cousin parents is reported. Clinically the disease is characterized by early developmental delay, hypotonia and later spastic paraplegia. The unique radiographic changes consist of peripheral osteosclerosis affecting predominantly metaphyses of the long bones and to a lesser degree ends of the ribs and clavicles, iliac crests, acetabulae, ischio-pubic synchondroses and vertebrae. The epiphyses are sclerotic in early life. The round bones, short tubular bones and the skull are little affected. The shafts of the tubular bones are osteopenic. Increased serum alkaline phosphatase was the only laboratory abnormality detected. We suggest the name "osteosclerotic metaphyseal dysplasia" for this disorder.
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PMID:Osteosclerotic metaphyseal dysplasia. 825 49

Perifascicular atrophy of muscle fibers is generally considered to be a specific feature of autoimmune myopathies, dermatomyositis in particular. We describe a neonate presenting with hypotonia and weakness. A biopsy revealed atrophic and regenerating muscle fibers in a perifascicular distribution, and abnormal alkaline phosphatase activity in neighboring perimysial connective tissue. The weakness was nonprogressive and improved on follow-up even though no long-term treatment was administered. We conclude that the presence of perifascicular myopathic changes and muscle fiber atrophy in infants presenting with hypotonia and weakness is neither diagnostic of progressive dermatomyositis, nor a necessary indication for immunosuppressive therapy.
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PMID:Neonatal perifascicular myopathy. 888 50

It is widely appreciated that health food beverages are not appropriate for infants. Because of continued growth, children beyond infancy remain susceptible to nutritional disorders. We report on 2 cases of severe nutritional deficiency caused by consumption of health food beverages. In both cases, the parents were well-educated, appeared conscientious, and their children received regular medical care. Diagnoses were delayed by a low index of suspicion. In addition, nutritional deficiencies are uncommon in the United States and as a result, US physicians may be unfamiliar with their clinical features. Case 1, a 22-month-old male child, was admitted with severe kwashiorkor. He was breastfed until 13 months of age. Because of a history of chronic eczema and perceived milk intolerance, he was started on a rice beverage after weaning. On average, he consumed 1.5 L of this drink daily. Intake of solid foods was very poor. As this rice beverage, which was fallaciously referred to as rice milk, is extremely low in protein content, the resulting daily protein intake of 0.3 g/kg/day was only 25% of the recommended dietary allowance. In contrast, caloric intake was 72% of the recommended energy intake, so the dietary protein to energy ratio was very low. A photograph of the patient after admission illustrates the typical features of kwashiorkor: generalized edema, hyperpigmented and hypopigmented skin lesions, abdominal distention, irritability, and thin, sparse hair. Because of fluid retention, the weight was on the 10th percentile and he had a rotund sugar baby appearance. Laboratory evaluation was remarkable for a serum albumin of 1.0 g/dL (10 g/L), urea nitrogen <0.5 mg/dL (<0.2 mmol/L), and a normocytic anemia with marked anisocytosis. Evaluation for other causes of hypoalbuminemia was negative. Therapy for kwashiorkor was instituted, including gradual refeeding, initially via a nasogastric tube because of severe anorexia. Supplements of potassium, phosphorus, multivitamins, zinc, and folic acid were provided. The patient responded dramatically to refeeding with a rising serum albumin and total resolution of the edema within 3 weeks. At follow-up 1 year later he continued to do well on a regular diet supplemented with a milk-based pediatric nutritional supplement. The mortality of kwashiorkor remains high, because of complications such as infection (kwashiorkor impairs cellular immune defenses) and electrolyte imbalances with ongoing diarrhea. Children in industrialized countries have developed kwashiorkor resulting from the use of a nondairy creamer as a milk alternative, but we were unable to find previous reports of kwashiorkor caused by a health food milk alternative. We suspect that cases have been overlooked. Case 2, a 17-month-old black male, was diagnosed with rickets. He was full-term at birth and was breastfed until 10 months of age, when he was weaned to a soy health food beverage, which was not fortified with vitamin D or calcium. Intake of solid foods was good, but included no animal products. Total daily caloric intake was 114% of the recommended dietary allowance. Dietary vitamin D intake was essentially absent because of the lack of vitamin D-fortified milk. The patient lived in a sunny, warm climate, but because of parental career demands, he had limited sun exposure. His dark complexion further reduced ultraviolet light-induced endogenous skin synthesis of vitamin D. The patient grew and developed normally until after his 9-month check-up, when he had an almost complete growth arrest of both height and weight. The parents reported regression in gross motor milestones. On admission the patient was unable to crawl or roll over. He could maintain a sitting position precariously when so placed. Conversely, his language, fine motor-adaptive, and personal-social skills were well-preserved. Generalized hypotonia, weakness, and decreased muscle bulk were present. Clinical features of rickets present on examination included: frontal bossing, an obvious rachitic rosary (photographed), genu varus, flaring of the wrists, and lumbar kyphoscoliosis. The serum alkaline phosphatase was markedly elevated (1879 U/L), phosphorus was low (1.7 mg/dL), and calcium was low normal (8.9 mg/dL). The 25-hydroxy-vitamin D level was low (7.7 pg/mL) and the parathyroid hormone level was markedly elevated (114 pg/mL). The published radiographs are diagnostic of advanced rickets, showing diffuse osteopenia, frayed metaphyses, widened epiphyseal plates, and a pathologic fracture of the ulna. The patient was treated with ergocalciferol and calcium supplements. The published growth chart demonstrates the dramatic response to therapy. Gross motor milestones were fully regained within 6 months. The prominent neuromuscular manifestations shown by this patient serve as a reminder that rickets should be considered in the differential diagnosis of motor delay. (ABSTRACT TRUNCATED)
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PMID:Severe nutritional deficiencies in toddlers resulting from health food milk alternatives. 1133 66

Hypophosphatasia is a rare autosomal recessive inborn error of metabolism characterized by a defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutation in a patient affected by infantile hypophosphatasia. This boy was the first child of non affected, non related parents. At 1 month of age he presented with palsy of the left upper limb with hypotonia. Length was - 2SD. The anterior fontanel was large. There was a markedly decreased ossification of all bones. All limbs were shortened. Ultrasonographic examination of the kidneys showed nephrocalcinosis. Level of alkaline phosphatases was decreased in the child as well as in the parents. Bone density was decreased. At 2 years of age development was delayed. Weight was - 3,5 SD and OFC - 3SD. The child had craniosynostosis. Molecular studies showed 2 missense mutations, both in exon 6 of the TNSALP gene.
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PMID:Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. 1241 36

We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. Blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis.
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PMID:Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures. 1249 29

Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. It may be present in infancy, childhood, or adulthood. Various clinical manifestations reflect different forms of alkaline phosphatase gene expression. In this report, we present two cases of hypophosphatasia, one of the infantile and the other of the adult form. The infantile case presented with failure to thrive, hypotonia, and radiologic rickets at 4 months old. The adult case had repeated fractures and marked loss of bone density demonstrated by radiographs. Both cases showed extremely low levels of alkaline phosphatase. To the best of our knowledge, they are the first reported patients with hypophosphatasia from the Taiwanese population.
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PMID:Hypophosphatasia in Taiwan: report of two cases. 1587 39


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