Cases reported "Rickets"

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1/9. Hypocalcemic tetany in a toddler with undiagnosed rickets.

    A 17-month-old black girl presented to the pediatric emergency department with sudden onset of her hands and feet "drawing up." A diagnosis of vitamin d deficiency rickets with tetany was made on a history of exclusive breast-feeding, low serum calcium, phosphorus, and 25-hydroxyvitamin D levels, and bone radiographs. Nutritional rickets should be considered in the differential diagnosis of acute hypocalcemia.
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2/9. Nutritional rickets: report of four cases diagnosed at orthopaedic evaluation.

    Nutritional rickets, the classic form of vitamin D-deficiency rickets, is rarely seen in the setting of modern medicine. We report four cases of nutritional rickets diagnosed at the time of orthopedic evaluation at our institutions during a 3-year period. All patients were referred by their pediatricians for evaluation of bowlegs. All children lived in a northern climate. Three were black and one was white. Prolonged breast-feeding and an unusual diet were identified as the underlying cause in our cases. genu varum, seen in the setting of relative short stature and low weight, with a consistent social history, should raise the suspicion for nutritional rickets. The continued prevalence of this disease entity must be recognized in both the primary care and the orthopedic surgery setting. Vitamin D supplementation and enhanced sunlight exposure serve as effective prophylaxis and treatment of this disease.
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3/9. Severe nutritional deficiencies in toddlers resulting from health food milk alternatives.

    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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4/9. Renal-resistant hormonoplethoric hypoparathyroidism with evidence for a defective response to cAMP.

    A 15.5-yr-old black male is reported with hypocalcemia, hyperphosphatemia, and severe osteitis fibrosa cystica. While hypocalcemic and hyperphosphatemic, the circulating parathyroid hormone (PTH) level and urinary cAMP excretion were increased. An infusion of exogenous PTH produced a normal maximal excretion of urinary cAMP but failed to increase phosphate excretion. Correction of the hypocalcemia by administration of 200,000 U vitamin D daily lowered the endogenous PTH level and basal excretion of cAMP to normal; at that time, infusion of PTH produced both a normal rise in urinary cAMP and a normal phosphaturic response. This pattern of response suggests pseudohypoparathyroidism with a calcium-sensitive defect in renal phosphate transport distal to the PTH receptor adenyl cyclase mechanism, producing hyperphosphatemia, hypocalcemia, and secondary hyperparathyroidism. The osteitis fibrosa cystica was presumably due to the increased PTH, suggesting that resistance to PTH was present in kidney but not bone.
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5/9. vitamin d deficiency rickets. A report on three cases.

    A resurgence of classic vitamin d deficiency rickets has been noted in the recent pediatric literature, but no mention of it appears in recent orthopedic journals. Three cases of vitamin d deficiency rickets occurred in children whose ages ranged from 14 to 17 months. Similar to the experience of others, all three occurrences were in young black children who were sustained on breast milk for prolonged periods (9-17 months). Differing from other cases in the recent literature, the patients' families were not consuming vitamin D deficient diets to comply with religious beliefs. Simple treatment with vitamin D supplementation was effective once the diagnosis was established.
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6/9. yogurt. Contributory factor in development of nutritional rickets.

    Vitamin D deficient rickets occurred in a 15-month-old black girl for whom yogurt had been substituted for milk products. Investigation determined that commercially available yogurt contains no vitamin D, and that this fact is not generally recognized by lay persons and health professionals. Use of yogurt as a major source of nutritional intake in infants and young children may be a contributory factor in development of vitamin d deficiency rickets.
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7/9. An outbreak of vitamin d deficiency rickets in a susceptible population.

    Nutritional, racial, cultural, and environmental factors have combined to produce a resurgence of vitamin d deficiency rickets in urban philadelphia. Between January 1974 and June 1978, 24 cases were diagnosed at the Children's Hospital of philadelphia. patients' ages ranged from 4 to 58 months. Presenting complaints included seizures, swollen wrists, pathologic fractures, and developmental regression. Sixteen patients were below the third percentile for length and weight. Laboratory results indicated vitamin d deficiency in nursing mothers as well as in infants. All infants had been breast-fed and all were black. Ingestion of vitamin D was limited by exclusion of meat and/or dairy products in 21, and no infants had consistently taken supplemental vitamins. Nineteen were members of Muslim or Seventh Day Adventist faiths. Endogenous synthesis of vitamin D was limited by dark skin, by dressing in long garments with hoods and veils, and by air pollution in a densely populated northern city. The return to a more "natural" diet, free of food additives, has been accompanied by the return of a classic disease of industrial society. Effective management required patience and respect for religious convictions. With treatment, there was correction of chemical and skeletal abnormalities, but few patients showed catch-up growth.
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8/9. Nephropathic cystinosis in black children. case reports.

    cystinosis is thought to be rare in Black patients. Two cases of nephropathic cystinosis in Blacks in early childhood are reported. One patient presented with classic features of Fanconi's syndrome with failure to thrive and rickets, while the other had polyuria, growth failure and rickets. This article highlights the need for the exclusion of cystinosis in any Black patient presenting with Fanconi's syndrome.
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9/9. Unsuspected nutritional rickets.

    Based on the presentation and clinical features of four cases of nutritional rickets, it is suggested that particular groups of children, namely vegetarians, children breast-fed for an unusually long time, and black children, are at risk to develop the nutritional deficiencies of vitamin D and calcium that lead to clinical rickets. The diagnoses in these cases were made by fortuitous radiologic examination, even though the children had been receiving regular pediatric supervision, indicating a lack of awareness of the condition. This report is intended to emphasize the reemergence of nutritional rickets and to illustrate the different modes of its clinical presentation.
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