Discussions By Condition: Medical Stories

Severe Joint Problem in all the joints

Posted In: Medical Stories 14 Replies
  • Posted By: DilipPanda
  • May 13, 2008
  • 08:19 AM

I have a daughter whose age is 9months.

She is having immense pain at all the joints and the joints are also swelled up(Since last 3 months).Might be due to this,She is not able to move her legs and arms

History:
When She was 13days old we found that she is crying a lot while massaging her body.Then we went to an Orthopaedics Doctor.He Suggested to wait for 2 months, things might improve.

I have done the following checkups:
1. Blood Test(-ve).
2. Joint XRay(-ve)
3. ECG(-ve)
4. Ultra Sound(-ve)
5. Skin Biopsy Test(-ve)

All the reports are coming negative,still the pain at the joints are not deceasing.

Till now we are not able to find any disease with the baby girl.

I have done the following consultation from diffrent doctors:
1, Dr Sunil Kr Agarwal(MKCG Medical College-Berhampur-Orissa):
Said might be a case of Scelodorma.So went to Bangalore St Johns Medical College.
2. Dr SwarnaRekha(St Johns Medical College-Bangalore):
Ruled out Sceloderma.Mild Increase in Fibre at the joint portion.No Medicine is required.
3. Dr Anjana Bhattacharya(Kolkata Apollo Hospital)
Could not find any reason for the disease.
4. Dr Atul Pattanaik
Suggested Calcium Defieciency.

Currently we are giving Ostocalcium(Calcium defieciency),Liv.52(Stomach Problem),Metrol(Dysentry/Diaerhorrea) from around 1.5 months.

But still there is no such significant improvement in the baby's condition.

Kindly suggest what should i do in this case.

Thanks in Advance.
Dilip Kumar Panda

Reply Flag this Discussion

14 Replies:

  • Hi all, Please suggest me some solution.Yesterday i visited another Doctor, He said that the baby has no future. Please advice me on the same. ThanksDilip
    DilipPanda 6 Replies Flag this Response
  • Juvenile arthritis? http://yourtotalhealth.ivillage.com/juvenile-rheumatoid-arthritis.html
    Anonymous 42789 Replies Flag this Response
  • Why did the doctor say she had no future?
    qwertyuiop123 453 Replies Flag this Response
  • The Doctor Said that she has multiple problems.As per the doctor this disease is a kind of Sclerodorma.So thsi baby has no future. Following sysmptomps are there with my baby girl:1. Joint Swelling and pain at all the joints2. Loose Motion since 3 months3. Extremely weak Please suggest me what should i do?Now i am in a helpless situation. Thanks in AdvanceDilip
    DilipPanda 6 Replies Flag this Response
  • Are you breastfeeding or using formula? What are the baby's stools like? How frequent are the stools? Is baby eating solid foods and if so, which ones? Have you visited an ayervedic specialist? DOM
    acuann 3080 Replies Flag this Response
  • Many of symptomps are there in my baby which are there for Lyme Disease. Including that her fingers are also stiff. Is it a symptom of Lyme Disease? If so how should we go for treatment/diagnosis? One Doctor(Homeopathy) is saying that it is poly artristis. Thanks & RegardsDilip
    DilipPanda 6 Replies Flag this Response
  • The swollen fingers made me think of hemochromatosis: chronic fatiguedramatic weight loss (or weight gain) heart arrhythmiajoint pain-especially in middle two fingers of the handskin discolorationamenorrhea (reduction or stoppage of menstrual cycle) depression (moodiness) upper right-quadrant abdominal painI read a couple different sites trying to figure out if infants can be affected and this one made it sound like they could http://www.irondisorders.org/Disorders/JHemochromatosis.asp hope that helps. And the doctors don't know your child like you do. They don't know everything, so they should not tell you your daughter has no future, especially since they haven't even found out whats wrong with her.
    qwertyuiop123 453 Replies Flag this Response
  • Since there are multiple disorders in my baby. Now i am consolidating all the symptomps at once:1. Loose Motion since 3.5 months2. All Joint Pain3. Not able to sit/stand on her own.4. Swollen Joints5. Swollen and bend Fingers6. Tight Stomach Till now from this forum i am able to find out two disease which matches the symptomps in my baby are:Juvenile ArthritisLyme DiseaseJuvenile hemochromatosis Please suggest me some path so that i can go ahead and do something for my baby.What testings need to be carried out to confirm the disease in my baby. Please suggest me some solution.If required i am ready to fax the test reports which i have already done.
    DilipPanda 6 Replies Flag this Response
  • Hemachromatosis:Ask your medical team for these HH blood tests by name: serum iron, TIBC (total iron binding capacity), and serum ferritin. Danger zone: % saturation greater than > 40% and/or ferritin greater than > 150 ng/mL. Ask for DNA testing by name for the Cys282Y & His63D mutations for both children & adults which will assess genetic risk for HH before damage occurs. Treatment is simple: bloodletting identical to a blood donation. Juvenile arthritis: Doctors usually suspect JRA, along with several other possible conditions, when they see children with persistent joint pain or swelling, unexplained skin rashes and fever, or swelling of lymph nodes or inflammation of internal organs. A diagnosis of JRA also is considered in children with an unexplained limp or excessive clumsiness. No one test can be used to diagnose JRA. A doctor diagnoses JRA by carefully examining the patient and considering the patient's medical history, the results of laboratory tests, and x rays that help rule out other conditions. Symptoms--One important consideration in diagnosing JRA is the length of time that symptoms have been present. Joint swelling or pain must last for at least 6 weeks for the doctor to consider a diagnosis of JRA. Because this factor is so important, it may be useful to keep a record of the symptoms, when they first appeared, and when they are worse or better.Laboratory tests--Laboratory tests, usually blood tests, cannot by themselves provide the doctor with a clear diagnosis. But these tests can be used to help rule out other conditions and to help classify the type of JRA that a patient has. Blood may be taken to test for RF and ANA, and to determine the erythrocyte sedimentation rate (ESR).ANA is found in the blood more often than RF, and both are found in only a small portion of JRA patients. The RF test helps the doctor tell the difference among the three types of JRA.ESR is a test that measures how quickly red blood cells fall to the bottom of a test tube. Some people with rheumatic disease have an elevated ESR or "sed rate" (cells fall quickly to the bottom of the test tube), showing that there is inflammation in the body. Not all children with active joint inflammation have an elevated ESR.X rays--X rays are needed if the doctor suspects injury to the bone or unusual bone development. Early in the disease, some x rays can show cartilage damage. In general, x rays are more useful later in the disease, when bones may be affected.Other diseases--Because there are many causes of joint pain and swelling, the doctor must rule out other conditions before diagnosing JRA. These include physical injury, bacterial or viral infection, Lyme disease, inflammatory bowel disease, lupus, dermatomyositis, and some forms of cancer. The doctor may use additional laboratory tests to help rule out these and other possible conditions.lyme: Lyme antibody blood testLyme antibody spinal tap test I've heard someone can have lyme but test negative, but i'm not sure if this is true or not. How is your daughter's development?can she do the things other nine month olds would do such as Stand while holding on to something Look for dropped objects Pull up to standing position from sitting Clap and bang objects together Combine syllables into word like sounds
    qwertyuiop123 453 Replies Flag this Response
  • Hi qwertyuiop123, My daughter is neither able to stand nor sit on her own, but she has good social eye interaction(Smiling) and looking for dropped objects. As i know, A nine month baby should atleast be able to sit on her own. She is only laying on the bed like a wood with slight movement of her arms and legs. Thanks & RegardsDilip
    DilipPanda 6 Replies Flag this Response
  • hello, After reading all that is going on I was wondering if you have looked into Ehlers Danlos Syndrome? My husband has this and you have described it to a tee. I will give you some infor on it. I hope this helps. Let me know what you think. Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. In the past, there were more than 10 recognized types of Ehlers-Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the arthrochalasia type, the classic type, the dermatosparaxis type, the hypermobility type, the kyphoscoliosis type, and the vascular type. Other forms of the condition may exist, but they have been reported only in single families or are not well characterized. Although all types of Ehlers-Danlos syndrome affect the joints and many also affect the skin, features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often appear to have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation, chronic pain, and early-onset arthritis. Dislocations involving both hips are a characteristic finding in infants with the arthrochalasia type of Ehlers-Danlos syndrome. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classic form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic shallow "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older. Some forms of Ehlers-Danlos syndrome, notably the vascular and kyphoscoliosis types, can involve serious and potentially life-threatening complications. Blood vessels can tear (rupture) unpredictably, causing internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing. How common is Ehlers-Danlos syndrome? Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classic forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classic type probably occurs in 1 in 20,000 to 40,000 people. Other forms of Ehlers-Danlos syndrome are very rare. About 30 cases of the arthrochalasia type and fewer than 60 cases of the kyphoscoliosis type have been reported worldwide. About a dozen infants and children with the dermatosparaxis type have been described. The vascular type is also rare; estimates vary widely, but the condition may affect about 1 in 250,000 people. What genes are related to Ehlers-Danlos syndrome? Mutations in the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes cause Ehlers-Danlos syndrome. Some of these genes (COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2) provide instructions for making proteins that are used to assemble different types of collagen. Collagens are molecules that give structure and strength to connective tissues throughout the body. Other genes (ADAMTS2, PLOD1, and TNXB) provide instructions for making proteins that process or interact with collagen. Mutations that cause the different forms of Ehlers-Danlos syndrome disrupt the structure, production, or processing of collagen, preventing these molecules from being assembled properly. These defects weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of this condition. Read more about the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes. How do people inherit Ehlers-Danlos syndrome? The inheritance pattern of Ehlers-Danlos syndrome varies by type. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new (sporadic) gene mutations. These cases occur in people with no history of the disorder in their family. The dermatosparaxis and kyphoscoliosis types of Ehlers-Danlos syndrome, and some cases of the classic and hypermobility forms, are inherited in an autosomal recessive pattern. In autosomal recessive inheritance, two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
    ashleym23 4 Replies Flag this Response
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  • Since the baby is only 9 months old.Is it possible that the baby can be affected by Ehlers Danlos Syndrome? In your message i could not confirm whether this disease appears in case of infants/babies of 9 months. If at all this is the problem then what are the tests that need to carried out to rule out the same? Please suggest... Thanks & RegardsDilip
    DilipPanda 6 Replies Flag this Response
  • Ehlers-Danlos is genetic, and depending on the type could be present at nine months. To diagnose Ehlers-Danlos syndrome, your doctor will likely begin with a complete physical examination and a careful recording of your medical and family histories. Extremely loose joints, fragile skin and a family history of EDS may lead to a diagnosis. Your doctor may also order the following tests: Genetic tests. DNA testing is available for classical type EDS, vascular type EDS, kyphoscoliosis type EDS and arthrochalasis type EDS. Prenatal DNA testing and preimplantation genetic diagnosis, a method that tests embryos obtained by in vitro fertilization, may be available for families in which the disease-causing mutation has been identified. Urine test. A urine test is available to help identify kyphoscoliosis type. The test measures the levels of an enzyme produced by the gene associated with kyphoscoliosis type. Abnormal levels of the enzyme typically indicate this form of EDS. Skin biopsy. In this test, a small sample of your skin is removed and examined under a microscope. Such a test may reveal abnormalities in the skin's collagen fibers. Vascular type EDS can be diagnosed by analyzing collagen produced by skin cells. Heart ultrasound. To check for mitral valve prolapse, a heart condition that can occur with the classical and hypermobility EDS subtypes, your doctor may recommend a heart ultrasound (echocardiogram). A heart ultrasound provides real-time images of your heart in motion. It can help identify abnormalities in the heart muscle and valves, and find any fluid that may surround the heart.
    qwertyuiop123 453 Replies Flag this Response
  • hello again, yes babies can have it. You are born with it although my husband didn't find out he had it until he was 7. There are many test. It really all comes down to what type they think you have as to what tests to do. Here is some things it said about babies in the letter I wrote you:Infants with hypermobile joints often appear to have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation, chronic pain, and early-onset arthritis. Dislocations involving both hips are a characteristic finding in infants with the arthrochalasia type of Ehlers-Danlos syndrome.You can google Ehlers Danlos Syndrome and it will bring up lots of info. Although you should tell your doctor to check into this because chances are they will not know much about it. Let me know. ashley
    ashleym23 4 Replies Flag this Response
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