Rickets is characterized by weakening and softening of bones in children with vitamin D deficiency. Such a type of condition strikes children and even the adolescents.
Presentation
Rickets causes the bones of the affected children to become weak and soft. Weakening and softening of the bones causes them to become fragile which in turn makes it more susceptible to fractures [8]. Soft and weak bones also cause poor growth and development in affected children. In such conditions, the child is shorter than average.
Pain may set in which may cause the child to become tired easily. Such children also experience difficulty while walking. Dental problems may develop including delay in teeth occurrence and the child is more susceptible to develop cavities.
Skeletal deformities such as development of thickened ankles and wrists, bowed legs and projection of breastbone occur.
Entire Body System
- Pain
Osteomalacia Mildly affected patients may present with widespread bone pain and tenderness (especially low back pain and in the hips), proximal muscle weakness and lethargy. [patient.info]
The signs and symptoms of rickets can include: pain – the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily; the child's walk may look different (waddling) skeletal deformities – thickening of [nhs.uk]
They received saccharated ferric oxide intravenouslly for anemia, just before having back pain, low back pain and hip joint pain due to osteomalacia. Their serum Ca and P were low and alkalinphosphatase was high. [doi.org]
- Short Stature
The clinical presentation is heterogeneous and depends on the age of onset and pathogenesis but includes bowing deformities of the legs, short stature and widening of joints. The disorder can be caused by nutritional deficiencies or genetic defects. [ncbi.nlm.nih.gov]
If rickets is not corrected while the child is still growing, skeletal deformities and short stature may be permanent. If it is corrected while the child is young, skeletal deformities often improve or disappear with time. [nlm.nih.gov]
- Fever
‘Its founder, Joseph Pilates, was born in Dusseldorf in 1880 and despite being a rather sickly child who suffered from rickets, asthma and rheumatic fever, he lived to the age of 87.’ ‘To absorb calcium, the body needs adequate vitamin D. [en.oxforddictionaries.com]
Differential diagnosis Differential diagnosis for PAPA syndrome should include juvenile idiopathic arthritis and periodic fever. Genetic counseling PAPA syndrome is inherited in an autosomal dominant manner. [orpha.net]
But cases of rickets, gout, syphilis and scarlet fever are on the rise in Britain - with financial inequality and bad diets thought to be to blame. Here's everything you need to know about rickets, and how to keep your kids' bones healthy... [thesun.co.uk]
She presented with abdominal pain, nausea, vomiting, and fever started two days earlier. She had no history of vaginal discharge. [ircmj.com]
She denied any fever or urinary and gynecological symptoms. The patient worked as a nurse's aid in another hospital. Her past medical history only involved tube sterilization by cauterization 20 years ago. [onlinelibrary.wiley.com]
- Anemia
[…] cell anemia and spherocytosis. [omicsonline.org]
Other manifestations include iron deficiency anemia, osteoporosis. [bmcresnotes.biomedcentral.com]
As a result of the official statistics and our research it turned out that children in this age-group more often suffer from intestinal infections, anemia, hypertrophy, rickets, skin and subcutaneous fiber disease, deficiencies occurring in prenatal period [ncbi.nlm.nih.gov]
[…] includes: Schmid-type metaphyseal chondrodysplasia hypovitaminosis C (scurvy) delayed maturation due to illness endocrine disturbances growth hormone excess hyperparathyroidism hypothyroidism The differential for flaring of the metaphysis includes: anemias [radiopaedia.org]
Hematologic disorders are often observed in common rickets, including hypochromic anemia and the rare Von Jacksch–Luzet syndrome. [jci.org]
- Asymptomatic
OI is a heterogeneous group of disorders of type 1 collagen formation and processing that are characterised by varying degrees of bony fragility, with presentations varying from perinatal lethality to asymptomatic. [ncbi.nlm.nih.gov]
Some patients are asymptomatic throughout life, some patients alternate between affected and unaffected. [orpha.net]
Even women with mild or asymptomatic PID might be at risk for infertility (740). [cdc.gov]
Some experts fear that vitamin D deficiency, which can be asymptomatic, may be more common than pediatricians realize and that rickets — perceived to be a 19th-century scourge that was wiped out with the fortification of milk — may be going undetected [nytimes.com]
Gastrointestinal
- Failure to Thrive
A 7-month-old boy presented with recurrent infections, seizures, failure to thrive, wheezing and respiratory distress progressing to global respiratory failure. [ncbi.nlm.nih.gov]
A child with rickets may have the following symptoms: Drowsiness Weak muscle tone Seizures Delayed development, decreased growth, or "failure to thrive" Bowed legs and widening of the wrist and ankle bones Stooped posture Chest and rib deformities - Some [orthoinfo.aaos.org]
- Diarrhea
Frequent symptoms and signs include chronic diarrhea, weight loss, and abdominal distention (in 40-50% of patients) [ 1 ]. Other manifestations include iron deficiency anemia, osteoporosis. [bmcresnotes.biomedcentral.com]
However, ulcerative colitis were seen in celiac children on restrictive gluten-free diet with persistent diarrhea or bleeding from lower gastrointestinal tract. [omicsonline.org]
Also, not consuming enough calcium can cause rickets, as may vomiting, diarrhea, and liver diseases. Certain complications of digestive disorders can also cause rickets. Treatment focuses on providing nutrition. [medicalnewstoday.com]
[…] stunted growth Child next to open sewer in slum in Kampala, Uganda, at risk of diarrhea and stunted growth The causes for stunting are principally very similar if not the same as the causes for malnutrition in children. [en.wikipedia.org]
The first presentation was abdominal pain in 18 (75%) cases; abdominal pain with fever in three (12%) cases; and fatigue, vaginal discharge, and diarrhea in one (4%) case. [ircmj.com]
Cardiovascular
- Hypertension
―骨代謝と生活習慣病の連関― Pharma Medica PNH Frontier Practice of Pain Management Pulmonary Hypertension Update Schizophrenia Frontier Surgery Frontier THE BONE THE GI FOREFRONT The Lipid The Liver Cancer Journal THE LUNG perspectives Thyroid Cancer Explore Trends [med.m-review.co.jp]
[…] cardiovascular disease Cognitive impairment in older adults Severe asthma in children Cancer Research suggests that vitamin D could play a role in the prevention and treatment of a number of different conditions, including type1 and type 2 diabetes, hypertension [webmd.com]
Delivery Models Health Care Economics, Insurance, Payment Health Care Policy Health Care Quality Health Care Reform Health Care Safety Health Care Workforce Health Disparities Health Informatics Health Policy Hematology History of Medicine Humanities Hypertension [jamanetwork.com]
They acknowledge that vitamin D deficiency is linked to a number of conditions in pregnancy, including gestational diabetes, preeclampsia, hypertension, preterm labor, difficult labors, and increased C-section rates. [articles.mercola.com]
Jaw & Teeth
- Dental Caries
Dental deformities include delayed formation of teeth, defects in the structure of teeth, holes in the enamel, and increased incidence of dental caries. [news-medical.net]
holes in the enamel, and increased cavities ( dental caries ) Impaired growth Increased bone fractures Muscle cramps Short stature (adults less than 5 feet or 1.52 meters tall) Skeletal deformities such as an odd-shaped skull, bowlegs, bumps in the [nlm.nih.gov]
Tooth development is impaired, with delayed eruption, enamel hypoplasia, and early dental caries ( 12 – 14 ). The pelvic bone structure is flattened in rachitic children. [jci.org]
[…] structure, holes in the enamel, and increased cavities ( dental caries ) Impaired growth Increased bone fractures Muscle cramps Short stature (adults less than 5 feet tall) Skeletal deformities such as an odd-shaped skull, bowlegs, bumps in the ribcage [nicklauschildrens.org]
- Delayed Dentition
dentition, poor growth, and, rarely, bone pain may present with symptoms of hypocalcaemia, such as neuromuscular irritability (e.g. convulsions, tetany), cardiomyopathy or cardiac arrest may be the presenting feature, especially in very young infants [gpnotebook.co.uk]
dentition Swelling of wrists and ankles Location Metaphyses of long bones subjected to stress are particularly involved Wrists Ankles Knees Imaging findings Cupping and fraying of metaphysis Poorly mineralized epiphyseal centers with delayed appearance [learningradiology.com]
Children can also have delayed dentition, pelvic abnormalities, and enlarged joints, along with a curved spine and a forward projected breastbone. Rickets also lowers a child's immune defenses. [encyclopedia.com]
There may be bony deformities of the chest, pelvis and skull, delayed dentition, poor growth, and bone pain. Softening of the skull (craniotabes) and frontal bossing in the first few months of life; delayed closure of fontanelles. [patient.info]
- Dental Abscess
These dental abscesses are common and therefore the extraction and pulpectomy are the treatment of choice. [ncbi.nlm.nih.gov]
Prevalence of dental abscess in a population of children with vitamin D-resistant rickets. Pediatr Dent. 1991;13:91–6. 20. Chaussain-Miller C, Sinding C, Wolikow M, Lasfargues JJ, Godeau G, Garabedian M. [aafp.org]
Skin
- Eruptions
Tooth development is impaired, with delayed eruption, enamel hypoplasia, and early dental caries ( 12 – 14 ). The pelvic bone structure is flattened in rachitic children. [jci.org]
Common early symptoms of rickets include restlessness, profuse sweating, lack of muscle tone in the limbs and abdomen, softening of the bones of the skull, delay in learning to sit, crawl, and walk, and delay in the eruption of the teeth. [britannica.com]
[…] commonly 'bow-legs' but can also be 'knock-knees' - it is normal to have some bowing before two years old and some knock-knees around the age of four) swelling at the wrists, knees and ankles because the ends of the bones are larger than normal late tooth eruption [rch.org.au]
Musculoskeletal
- Rachitic Rosary
Bulbous enlargement of the costochondral junctions (rachitic rosary) Patho-radiological features: 4. [slideshare.net]
Rachitic rosary Rachitic rosary on chest radiograph The prominent knobs of bone at the costochondral joints of rickets patients are known as a rachitic rosary or beading of the ribs. [en.wikipedia.org]
The characteristic bone changes of rickets include bowing of the legs, rachitic rosary of the rib cage, frontal bossing, and epiphyseal enlargement of the wrists and ankles. [doi.org]
Fractures of different ages Rachitic rosary (prominence of the costochondral junctions) and chest deformities http://radiopaedia.org/articles/rachitic-rosary Differential diagnosis Vitamin D resistant rickets-hypophosphatemia. [pedclerk.bsd.uchicago.edu]
- Genu Valgum
Abstract A 16-year-old boy with widening of the large joints of the extremities and bilateral genu valgum had been extensively treated with oral vitamin D, with little clinical benefit. [ncbi.nlm.nih.gov]
Home Internal Medicine Rickets Photos Dermatology Orthopedics Surgery Pediatrics Click on photos for enlarged view Knock knee deformity (genu valgum) Windswept deformity of rickets Bowleg deformity (genu varum) Bowing of long bones in legs Wrist enlargement [thachers.org]
Characteristic skeletal deformities are bowed legs or knock knees (genu varum and genu valgum, respectively), asymmetrical or odd-shaped skull, costochondral swelling (also known as rachitic rosary), as well as cranial, pelvic and spinal deformities [news-medical.net]
Once the child begins to stand, gravity pushing on the lower limbs results in either inward (genu valgum) or outward (genu varum) tibial and femoral bowing. [jci.org]
- Chest Deformity
Clinical characteristics included: delays of sitting, walking, and teething; bone and chest deformities; widened wrists and ankles; and bowed lower extremities. [ncbi.nlm.nih.gov]
Ankle enlargement Rib beading (rachitic rosary) Harrison's sulcus and pot belly Chest deformity Scoliosis Tibial bowing Frontal bossing X-ray in rickets Bone density measurement Rickets in Bangladesh Family of children with rickets Before treatment and [thachers.org]
Chest deformities can develop from deformities of the ribs, and lead to lung infections. Your doctor will examine your child, looking for the signs and symptoms of rickets discussed above. [orthoinfo.aaos.org]
Clinical Manifestations Constitutional deformities Decreased linear growth Failure to thrive MSK deformities Neurologic abnormalities Hypotonia Brisk reflexes - Trousseau and Chvostek's sign Weak respiratory muscles: apnea, wheezing Vitamin D deficiency [pedclerk.bsd.uchicago.edu]
Muscle traction on the softened ribcage is responsible for the chest deformation, leading to pectus carinatum, thoracic asymmetry, and widening of the thoracic base. [jci.org]
- Knee Pain
"Association between knee alignment and knee pain in patients surgically treated for medial knee osteoarthritis by high tibial osteotomy. A one year follow-up study". BMC Musculoskeletal Disorders. 10 (1): 154. doi:10.1186/1471-2474-10-154. [en.wikipedia.org]
Severe vitamin D deficiency ( Frequent back pain and knee pain after exercise can be suggestive of impaired bone health. [omicsonline.org]
Face, Head & Neck
- Frontal Bossing
The characteristic bone changes of rickets include bowing of the legs, rachitic rosary of the rib cage, frontal bossing, and epiphyseal enlargement of the wrists and ankles. [doi.org]
bossing X-ray in rickets Bone density measurement Rickets in Bangladesh Family of children with rickets Before treatment and 2 years after treatment with calcium Before treatment and 2 years after treatment with calcium [thachers.org]
[…] and epiphyseal center Cortical spurs projecting at right angles to metaphysis Coarse trabeculation (not the ground-glass pattern found in scurvy) Periosteal reaction may be present Deformities common Bowing of long bones Molding of epiphysis Fractures Frontal [learningradiology.com]
[…] bones (frontal bossing); - defects of the dental enamel and extensive caries are common; - spine and thorax: - exam of spine frequently shows a thoracic kyphosis (rachitic cat-back) - exam of thorax may show prominence of the costochondral junctions [wheelessonline.com]
Other abnormal findings include frontal bossing, open anterior fontanel, wide wrists, and bowlegs. Nutritional rickets is suspected and confirmed with laboratory and radiographic evaluations. [aafp.org]
- Delayed Closure of Fontanelles
There may be bony deformities of the chest, pelvis and skull, delayed dentition, poor growth, and bone pain. Softening of the skull (craniotabes) and frontal bossing in the first few months of life; delayed closure of fontanelles. [patient.info]
Neurologic
- Seizure
Hypocalcemic seizures are uncommon in the post-neonatal period. We report an infant with hypocalcemic seizures caused by severe deficiency of vitamin D. [ncbi.nlm.nih.gov]
Rickets is associated with biochemical abnormalities, bone deformities, impaired growth, developmental delays, and, late in the course of the disease, seizures. [doi.org]
Workup
A preliminary physical examination is done to evaluate for the signs and symptoms of bone tenderness and presence of associated abnormalities. In addition, further tests are required to confirm the diagnosis of rickets. These tests include:
- Arterial blood gas measurements
- Blood tests to analyze the levels of calcium, phosphorus and parathyroid hormones
- Bone X-rays are done which reveal bone deformities
X-Ray
- Nephrolithiasis
They are more prone to develop nephrolithiasis. [35] FGF23 level is normal and 1,25(OH) 2 D levels are appropriately elevated for low phosphorus levels. These patients also exhibit hypercalciuria which predispose them to nephrolithiasis. [doi.org]
"Nephrolithiasis related to inborn metabolic diseases". Pediatric Nephrology. 25 (3): 415–24. doi:10.1007/s00467-008-1085-6. PMC 2810370. [en.wikipedia.org]
Serum
- Hypophosphatemia
Our findings indicate that cinacalcet is effective in normalizing the hyperparathyroidism and hypophosphatemia in these cases and in improving the bone pathology. [ncbi.nlm.nih.gov]
Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D.[citation needed] Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct. [en.wikipedia.org]
glucosuria, aminoaciduria Vitamin D-resistant rickets Cystinosis Tyrosinosis Lowe syndrome Hypophosphatemia with nonendocrine tumors Oncogenic rickets - elaboration of humeral substance which inhibits tubular reabsorption of phosphates Sclerosing hemangioma [learningradiology.com]
There is also a hereditary type of rickets, called X-linked hypophosphatemia, that causes the kidneys bo be unable to retain phosphate. [medical-dictionary.thefreedictionary.com]
Hypophosphatemia: The common denominator of all rickets. J Bone Miner Metab 2009;27:392-401. 3. Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophicchondrocytes. [doi.org]
- Hypophosphatemia
Our findings indicate that cinacalcet is effective in normalizing the hyperparathyroidism and hypophosphatemia in these cases and in improving the bone pathology. [ncbi.nlm.nih.gov]
Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D.[citation needed] Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct. [en.wikipedia.org]
glucosuria, aminoaciduria Vitamin D-resistant rickets Cystinosis Tyrosinosis Lowe syndrome Hypophosphatemia with nonendocrine tumors Oncogenic rickets - elaboration of humeral substance which inhibits tubular reabsorption of phosphates Sclerosing hemangioma [learningradiology.com]
There is also a hereditary type of rickets, called X-linked hypophosphatemia, that causes the kidneys bo be unable to retain phosphate. [medical-dictionary.thefreedictionary.com]
Hypophosphatemia: The common denominator of all rickets. J Bone Miner Metab 2009;27:392-401. 3. Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophicchondrocytes. [doi.org]
- Parathyroid Hormone Increased
In the later course, levels are, slightly low because parathyroid hormone increases renal excretion. Very high or very low concentrations suggest renal rickets. Parathyroid hormone Normal values vary with age and method: 1–6 pmol/L. [boneandspine.com]
Treatment
In majority of the cases, rickets can be corrected by administration of vitamin D and calcium supplements. In many cases, single day dose therapy is considered wherein 600,000 IU of Vitamin D is administered [9]. In the gradual dose method, about 5000 to 10,000 IU of vitamin D is administered every day for a period of 2 to 3 months. It is necessary to carefully follow the dosage schedule as prescribed by the doctor. This is so because excessive administration of vitamin D can have deleterious effects on the body [1].
Surgery is often the last resort and is employed in cases of severe structural deformities. It is indicated in cases of severe forms of bow legs and spinal deformities.
Prognosis
The prognosis of the condition is usually favorable with timely initiation of treatment. When minerals and Vitamin D are supplemented during the early stages of the disease then skeletal deformities gradually get corrected. It has been seen that administration of adequate doses of vitamin D and minerals show an improvement in laboratory value and bone X-ray of the affected individuals. However, failure to initiate treatment can cause permanent skeletal deformities to set in.
Etiology
Deficiency of vitamin D, calcium and phosphorus causes development of rickets amongst children and adolescents. Deficiency of these nutrients occurs in population who live in climates where they are little exposed to sunlight or in those who prefer to stay indoors. Children who are intolerant to lactose also exhibit vitamin D deficiency. Children who follow a strict vegetarian diet are also susceptible to develop deficiency of vitamin D which if continues for long term can cause rickets [2]. Heredity is yet another factor that can lead to the disorder. In addition, children who have renal tubular acidosis are also likely to suffer from the condition [3].
Epidemiology
Rickets is a common occurrence in infants who are only breastfed and are dark skinned. However, in developed countries the incidence is low and is estimated to be 1 in 200,000. In developing countries, rickets was a common occurrence in the past; however the incidence of the condition decreased due to fortification of foods with vitamin D since the year 1940 [4].
Pathophysiology
Vitamin D plays a vital role in regulating the calcium and phosphorus levels. In conditions when the levels of these mineral decrease significantly, the body in response produces hormones that causes the calcium and phosphorus to be released from the bones [5]. This in turn leads to softening and weakening of the bones, causing development of rickets [6] [7].
Prevention
Rickets can be prevented by ensuring proper intake of vitamin D from the diet. Parents are also advised to encourage their children to play outdoors so that they can adequately get exposed to sunlight.
Children with underlying disease conditions governing the kidneys should be promptly treated. This is because poor renal functioning interferes with appropriate absorption of vitamin D causing rickets. In addition, children with gastrointestinal disorders or other diseases should be given supplements of vitamin D and calcium [10].
Summary
Children who are only breastfed often fall prey to rickets because breast milk does not contain sufficient amounts of vitamin D. In many cases, rickets also result due to deficiency of calcium and phosphorus [1]. It has been reported that rickets was the first childhood disease that was caused due to industrial pollution. During the era of industrial revolution, rickets outbreak occurred in the temperate zone because the pollutants from the factories blocked the sun rays. This led to development of vitamin D deficiency in the population.
Patient Information
Definition
Rickets is a condition characterized by development of weak and soft bones due to vitamin D deficiency. Inadequate level of vitamin D causes calcium and mineral from the bones to be released that ultimately results in weakening of the bones. Incidence of rickets has undergone a significant decline in developed as well as developing countries due to introduction of foods fortified with vitamin D.
Cause
Lack of vitamin D causes rickets. Children who play indoors are not exposed to sunlight which devoid them of sun rays. A diet that is deficient in calcium and vitamin D can also lead to development of rickets. Heredity is yet another factor that is known to play foul. Children or adolescents suffering from kidney disorders are also susceptible to develop rickets.
Symptoms
Symptoms of rickets include pain in spine, legs, development of muscle weakness and delayed growth. In many cases structural deformities such as bow legs, projection of breastbone and thickening of the wrists and ankles can also set in.
Diagnosis
Diagnosis of rickets includes conducting blood tests to evaluate levels of calcium, phosphorus and vitamin D. Arterial blood gas measurement along with bone X-rays are also conducted.
Treatment
Treatment of rickets includes administration of vitamin D supplements to correct the condition. Single dose therapy or gradual dose is given for patients with rickets. Surgery is often the last resort which is employed when there are severe structural deformities.
References
- Misra M, Pacaud D, Petryk A, et al. Vitamin D deficiency in children and its management: review of current knowledge and recommendations. Pediatrics 2008; 122:398.
- Institute of Medicine (US) Committee to Review Dietary Reference Intakes for Vitamin D and Calcium. Ross AC, Taylor CL, Yaktine AL, Del Valle HB eds. Dietary Reference Intakes for Calcium and Vitamin D. Washington DC: National Academies Press; 2011.
- Malloy PJ, Feldman D. Genetic disorders and defects in vitamin d action. Endocrinol Metab Clin North Am 2010; 39:333.
- Lowdon J. Rickets: concerns over the worldwide increase. J Fam Health Care. Mar-Apr 2011;21(2):25-9.
- Kruse K. Pathophysiology of calcium metabolism in children with vitamin D-deficiency rickets. J Pediatr 1995; 126:736.
- Reichel H, Koeffler HP, Norman AW. The role of the vitamin D endocrine system in health and disease. N Engl J Med 1989; 320:980.
- Pitt MJ. Rickets and osteomalacia are still around. Radiol Clin North Am 1991; 29:97.
- Chapman T, Sugar N, Done S, et al. Fractures in infants and toddlers with rickets. Pediatr Radiol 2010; 40:1184.
- Shah BR, Finberg L. Single-day therapy for nutritional vitamin D-deficiency rickets: a preferred method. J Pediatr. Sep 1994;125(3):487-90.
- Wagner CL, Greer FR. Prevention of rickets and vitamin D deficiency in infants, children, and adolescents. Pediatrics. Nov 2008;122(5):1142-52.