Cases reported "Rickets"

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1/6. 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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2/6. vitamin d deficiency in breast-fed toddlers.

    SUMMARY: The evaluation of genu varum and intoeing in young toddlers is a frequent problem seen by the primary care physician and the orthopaedic surgeon. This report describes six nonwhite breast-fed toddlers with extreme genu varum. Clinical and radiographic findings were consistent with vitamin D-deficiency rickets. Within 3 to 6 months of the initiation of ergocalciferol treatment, reparative processes were evident on both radiographic and clinical examinations. Laboratory studies also showed underlying correction. With the current emphasis on the benefits of breast-feeding and the limitation of sunlight, this diagnosis must remain on the differential in the evaluation of genu varum.
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3/6. Limited availability of nutritional vitamin D causing inappropriate treatment of vitamin d deficiency rickets with a response resembling pseudohypoparathyroidism type II in a Japanese patient.

    vitamin d deficiency rickets occasionally resembles pseudohypoparathyroidism type II (PHP type II) with respect to the response to exogenous PTH in the presence of hypocalcemia. We encountered a Japanese patient with stage 2 vitamin d deficiency rickets, who had increased urinary cAMP excretion and no response of urinary phosphate or N-acetyl-beta-D-glucosaminidase excretion to exogenous PTH under normocalcemic and normophosphatemic conditions, after treatment with 1,25(OH)2 vitamin D3. This case shows that it is possible for a response mimicking that of PHP type II to occur when the serum calcidiol level is low due to causes other than hypocalcemia and secondary hyperparathyroidism. When the serum calcidiol level is low, the appropriate treatment should be cholecalciferol or ergocalciferol. However, because neither is commercially available as a useful formulation in japan, physicians are forced to inappropriately use calcitriol or analogs.
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4/6. Nutritional rickets: beyond the chief complaint.

    In the emergency department, opportunities exist for the emergency physician to make a diagnosis beyond the chief complaint. For example, an astute reader of pediatric radiographs may detect signs of rickets on plain films that are obtained for other reasons. risk factors that should suggest nutritional rickets in an infant include a history of exclusive breast-feeding, time of presentation in late winter or early spring, and a physical examination that reveals pigmented skin.
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5/6. rickets. A study with case report.

    rickets is a pediatric disorder not commonly encountered by physicians in the US. Nevertheless, the podiatric physician should be aware that it persists and may exist in children who initially present with gait disturbances or failure to thrive. By using routine plain film radiography of the child's foot, the podiatric physician can screen one of the child's most rapid sites of secondary osseous growth, ie, the distal tibia. A brief overview of the rachitic and osteomalacic disorders is presented, followed by a discussion centered primarily on the plain film radiologic diagnosis of rickets.
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6/6. hypocalcemia and stridor: an unusual presentation of vitamin D-deficient rickets.

    The differential diagnosis of stridor in the pediatric population is broad and should include hypocalcemia with resultant laryngospasm. We present the case of a breast-fed infant who presented to the pediatric emergency department with profound stridor during the winter months because of hypocalcemia of undiagnosed rickets. The patient responded to intravenous calcium chloride with rapid resolution of symptoms. Emergency physicians should consider obtaining ionized calcium levels in pediatric patients with stridor, especially when standard therapies for more common causes of stridor are ineffective.
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