Diagnóstico diferencial del raquitismo hipocalcémico. caso clínico / Differential diagnosis in hypocalcemic rickets: a clinical case

Introducción: La hipocalcemia es un hallazgo infrecuente en los pacientes atendidos en los servicios de urgencia pediátricos. El raquitismo se puede presentar como una hipocalcemia crónica la mayoría de las veces asintomática, sin embargo, algunos pacientes presentan tetanias hipocalcémica. Objetivo: Presentar el caso clínico de una niña con raquitismo hipocalcémico, cuyo diagnóstico fue tardío. Caso clínico: Prescolar de 2 años 5 meses con alteración en la marcha, mal incremento ponderal, espasmos musculares y signos de raquitismo activo. Los exámenes revelaron hipocalcemia severa, normofosfemia, fosfatasa alcalina y PTH elevada y niveles normales de 25 hidroxivitamina D. Se manejó con calcio y calcitriol, y se diagnosticó raquitismo vitamina D dependiente tipo I. Conclusión: Los síntomas y signos clásicos de raquitismo, así como la hipocalcemia, deben hacernos plantear hoy en día el diagnóstico de raquitismo. Un mejor conocimiento de esta patología permitirá evitar el retraso en el diagnóstico y un tratamiento más oportuno.

Introduction: Hypocalcemia is rare in patients attending pediatric emergency services. Rickets can present as a chronic hypocalcemia often asymptomatic, poor growth rate, psychomotor delay and bone abnormalities, but some patients may present tetanic seizures. Although its incidence has decreased, a resurgence of rickets has been described. Objective: To present a case of a child with hypocalcemic rickets, whose diagnosis was delayed. Case report: Preschool of 2,4 years old with gait disturbance, poor growth rate, muscle spams and signs of active rickets. Laboratory results showed hypocalcemia, normophosphemia, alkaline phosphatase, high PTH and normal 25-hydroxyvitamin D levels. She received treatment with calcium and calcitriol and had a good response; Vitamin D dependent rickets type I was diagnosed. Conclusion: Classics signs and symptoms of rickets, as hypocalcemic manifestations, should lead us today to diagnose rickets. Better knowledge of this disease will avoid retarded diagnosis and give a suitable treatment.

Rickets: a cause of delayed walking in toddlers.

OBJECTIVE: Children with complaints of not able to walk were investigated for rickets by appropriate history, clinical examination, serum biochemistry and radiology. METHODS: Children more than 1 yr were included. Each child was evaluated keeping in mind the possible causes of delayed walking. Also each child was thoroughly examined and diagnosed by combination of clinical, radiological, biochemical findings and response to treatment. RESULTS: Out of forty-two non-walkers during the study period, 25 patients turned out to be affected by nutritional rickets (60%). On follow-up at 3 weeks of treatment, all 25 patients (100%) showed radiological and biochemical response. Five patients were lost to follow-up after 3 weeks of treatment. Seventeen patients started walking within 3 months of treatment. Two patients did not start walking even after complete biochemical and radiological resolution. Radiological resolution, with limiting factor being the healing of lower end of ulna, averaged 5 months. CONCLUSION: The study reveals that majority of ricketic non-walkers start walking within 2 to 5 months of appropriate treatment.

Comparison of oral versus injectable vitamin-D for the treatment of nutritional vitamin-D deficiency rickets

To assess the safety and acceptability of a single dose of vitamin-D versus the efficacy of injectable Vitamin-D versus oral vitamin-D. Case control. It was carried out at the Department of Paediatrics, Kharadar General Hospital, Karachi, from August 2003 to April 2004. Children of the age of 6 months to 3 years with clinical, biochemical and radiological evidence of vitamin-D deficiency rickets were included. The history, clinical examination, complete blood picture, serum calcium. Phosphorus, alkaline phosphatase and X-ray of wrist joint were done. The children were divided into two groups A and B. Group A was given oral vitamin-D and group B was given intramuscular injection of vitamin-D on the first day and then they were followed for two more visits at 30 and 90 days with clinical, biochemical and radiological examinations to assess the outcome. There were 50 confirmed cases of rickets in each group. The mean age was 10.9 +/- 5.1 months and 14.7 +/- 8.1 months in group A and B respectively. In these children, clinical features were weakness, difficulty in walking, frontal bossing, ribcage deformity and widening of wrist were seen. After one dose of vitamin-D [cholecalciferol], there was appreciable gain of weight and height and raised levels of alkaline phosphatase became normal during follow-up. Radiological florid rickets and non-florid rickets in both groups healed clinically during follow-up period. Oral and injectable forms of vitamin-D [cholecalciferol] were effective but injectable form was shown to be statistically significant. There were no undesirable side effects and both forms of treatment were well-tolerated

Rickets: an overview and future directions, with special reference to Bangladesh. A summary of the Rickets Convergence Group meeting, Dhaka, 26-27 January 2006.

Rickets has emerged as a public-health problem in Bangladesh during the past two decades, with up to 8% of children clinically affected in some areas. Insufficiency of dietary calcium is thought to be the underlying cause, and treatment with calcium (350-1,000 mg elemental calcium daily) is curative. Despite this apparently simple treatment, little is known about the most appropriate management of bone deformities of affected children, and further studies are needed to determine the details of dosing and duration of calcium therapy, the role of bracing, and specific indications for surgical intervention. Effective preventive measures that can feasibly reach entire communities are needed, and these may differ between various affected regions.

Bone mineral density in response to two different regimes in rickets.

The aim of this study was to compare the bone mineral density (BMD) of two different treatment regimens in infants with nutritional vitamin D deficient rickets (VDR). Ten patients (Group 1) were treated with a single dose of 600,000 IU of oral vitamin D3 and another ten patients (Group 2) were treated with 20,000 IU/day of oral vitamin D3 for 30 days. BMD was measured in the lumbar spine twice in all infants before the treatment and on the 31st day after initiating the treatment. The increases of BMD after treatment compared to pretreatment levels were statistically significant in both groups (P = 0.005 in Group 1 and P = 0.047 in Group 2). The increments of BMD were statistically similar between Group 1 and 2 (P = 0.096). The present study suggests that these two different treatment regimens bring about similar healing in BMD.

Non-azotemic refractory rickets in Indian children.

In order to examine the etiology of refractory rickets, we evaluated the case records of patients presenting between 1990 and 2002. Subjects with impaired renal functions were excluded. Of 131 patients, 25.9 % each had hypophosphatemic rickets and distal renal tubular acidosis (RTA), 19.6 %vitamin D dependent rickets (VDDR), 11.3 % proximal RTA, 9.1 % liver disease and 6.1 % malabsorption. A significant proportion of patients with VDDR and proximal RTA showed deformities in the first year of life, whereas those with distal RTA and hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs; hypercalciuria was found in 4. Distal RTA was associated with marked rickets and normal levels of alkaline phosphatase. Hypophosphatemia and low tubular reabsorption of phosphate, though characteristic of hypophosphatemic rickets, was also seen in patients with VDDR (19.2%) and distal RTA (17.6 %). Our findings suggest that application and interpretation of appropriate investigations are useful in determining the cause of non-azotemic refractory rickets allowing initiation of specific therapy.

Nutritional and metabolic rickets.

Nutritional rickets is caused by vitamin D deficiency due to lack of exposure to sunlight. Neonatal rickets occurs only in infants born to mothers with very severe osteomalacia. Calcium deficiency alone does not cause mineralisation defects. It only causes osteoporosis and secondary hyperparathyroidism with raised plasma, 1,25 (OH)2D and osteocalcin. Low 25-OHD, increased IPTH, increased alkaline phosphatase in plasma and decreased calcium and increased hydroxyproline in urine are diagnostic of rickets. Low or undetectable plasma levels of 25-OHD, in presence of high plasma 1,25(OH)2D and IPTH are often observed during treatment with vitamin D. Even the marginal intakes of fluoride (> 2.5 mg/day) cause rickets in calcium deficient children. Indian children often need high dose of vitamin D due to severely depleted D stores, high IPTH and severe bone disease (radiologic and histomorphometric) for treatment.

Tratamento das deformidades angulares dos membros inferiores no raquitismo nutricional: genuvaro e genuvalgo / Tretment of angular deformities of lower limbs in nutritional rickets: varus and valgus deformities

Pretende-se com este estudo realizado em 27 pacientes com raquitismo nutricional demonstrar a rotina usada no diagnóstico e tratamento desta patologia e de suas alteraçoes esqueléticas em nosso serviço. Sao analisados 13 pacientes com deformidade em varo e 14 pacientes com deformidade em valgo dos membros inferiores, mostrando-se a importância de rigorosos parâmetros clínicos, radiológicos e laboratoriais.

Raquitismo hipofosfatémico familiar / Familial hypophosphatemic rachitism

El raquitismo hipofosfatémico familiar (raquitismo hipofosfémico familiar) se caracteriza por alteración del transporte renal de fosfatos, hipofosfatemia difícil de tratar, raquitismo, normocalcemia y talla baja final. La hipofosfatemia se transmite por herencia dominante ligada al cromosoma X. El calcitriol 1,25 (OH)2 D3 plasmático es inapropiadamente bajo para la magnitud de la hipofosfatemia, por lo que se postula un defecto en su síntesis. El tratamiento incluye dosis orales altas de fosfato y calcitriol, a pesar de lo cual persiste la hipofosfatemia y tallas finales resultan bajas en la mayoría de los pacientes

Effect of anabolic steroid on the development and treatment of rickets in rats.

The influence of anabolic steroid on the process of production of rickets in vitamin-D deficient animals as well as its influence on healing of rickets with vitamin-D therapy was studied. Long-Evans strains of female rats of two age groups (6 weeks and 4 weeks) were given rachitogenic diet and were divided into five sub-groups-(I) control receiving vitamin-D from the 1st day, (II) rachitic group, (III) receiving vitamin-D from 36th day, (IV) receiving anabolic hormone from the beginning of the experiment and (V) receiving both vitamin-D and anabolic hormone from 36th day of treatment. It was observed grossly as well as histologically and radiographically that: (1) the anabolic steroid minimizes the rachitic changes in the bones of vitamin-D deficient rats, (2) in rachitic animals, a combination therapy of anabolic hormone and vitamin-D results in comparatively greater calcification of osteoid matrix and better healing and remodelling of bone than with vitamin-D alone.