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What Is Your Medical Diagnosis ?

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Dec 6, 2012.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    What Is Your Medical Diagnosis ?

    Child.jpg
     

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  2. neo_star

    neo_star Moderator

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    I know the diagnosis in this case, only becos I have the exact same image in my mcq set,....but it's so hard to pin the diagnosis without a context...there are a number of disease in this group and all of them could exactly like this child.
     

  3. amaniagz

    amaniagz Well-Known Member

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    ?cystic fibrosis with resp. failure.
     

  4. summeragreen

    summeragreen Well-Known Member

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    Prader -willi? I honetsly have no idea just a guess curious to see what it is
     

  5. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    I agree with neostar...much possible causes.
     

  6. dr.angela

    dr.angela Bronze Member

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    Cystic fibrosis
     

  7. neo_star

    neo_star Moderator

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    The coarse features of the child in this image point to the 'Mucopolysaccharidosis group' and early on most of them can have a similar phenotype.

    The specific diagnosis in this case is - 'Hurler syndrome'. I know it as it has featured in an mcq.

    [TABLE="class: MsoTableGrid"]
    [TR]
    [TD]Hurler Syndrome
    [FONT=&amp]aka - mucopolysaccharidosis type I, gargoylism[/FONT][/TD]
    [TD="width: 522"] Hunter Syndrome
    [FONT=&amp]aka - mucopolysaccharidosis Type II[/FONT][/TD]
    [/TR]
    [TR]
    [TD="width: 587"] [FONT=&amp]Autosom. recessive[/FONT][/TD]
    [TD="width: 522"] [FONT=&amp]X ”“ linked recessive[/FONT][/TD]
    [/TR]
    [TR]
    [TD="width: 587"] [FONT=&amp]deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes.[/FONT][FONT=&amp] The defective alpha-L-iduronidase results in an accumulation of heparan and dermatan sulfate within phagocytes, endothelium, smooth muscle cells, neurons, and fibroblasts. Underneath electron microscopy these structure present as laminated structures, [/FONT][FONT=&amp]Zebra bodies.[/FONT][/TD]
    [TD="width: 522"] [FONT=&amp]caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S). [/FONT][FONT=&amp]In Hunter syndrome, GAG builds up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S). This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible. [/FONT]
    [/TD]
    [/TR]
    [TR]
    [TD="width: 587"] [FONT=&amp]The condition is marked by progressive deterioration, hepatosplenomegaly, dwarfism and unique facial features. There is a progressive mental retardation, with death frequently occurring by the age of 10 years.[/FONT]
    [FONT=&amp]Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.[/FONT]
    [FONT=&amp]Affected children may be large at birth and appear normal but may have inguinal or umbilical hernias. Growth in height may be initially faster than normal, then begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen and heart are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications.[/FONT][/TD]
    [TD="width: 522"] [FONT=&amp]The symptoms of Hunter syndrome (MPS II) are generally not apparent at birth, but usually start to become noticeable after the first year of life. Often, the first symptoms of Hunter syndrome may include abdominal hernias, ear infections, runny noses, and colds. Since these symptoms are quite common among all infants, they are not likely to lead a doctor to make a diagnosis of Hunter syndrome right away.As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible. Physical appearances of many children with Hunter syndrome include a distinctive coarseness in their facial features, including a prominent forehead, a nose with a flattened bridge, and an enlarged tongue. For this reason, unrelated children with Hunter syndrome often look alike. They may also have a large head as well as an enlarged abdomen. Many continue to have frequent infections of the ears and respiratory tract.[/FONT]

    [FONT=&amp]The continued storage of GAG in cells can lead to organs being affected in important ways. The thickening of the heart valves along with the walls of the heart can result in progressive decline in cardiac function. The walls of the airway may become thickened as well, leading to breathing problems while sleeping (obstructive airway disease). People with Hunter syndrome may also have limited lung capacity due to pulmonary involvement. As the liver and spleen grow larger with time, the belly may become distended, making hernias more noticeable. All major joints (including the wrists, elbows, shoulders, hips, and knees) may be affected by Hunter syndrome, leading to joint stiffness and limited motion. Progressive involvement of the finger and thumb joints results in decreased ability to pick up small objects. The effects on other joints, such as hips and knees, can make it increasingly difficult to walk normally. If carpal tunnel syndrome develops, a further decrease in hand function can occur. The bones themselves may be affected, resulting in short stature. In addition, pebbly, ivory-colored skin lesions may be found on the upper arms and legs and upper back of some people with Hunter syndrome. The presence or absence of the skin lesions is not helpful, however, in predicting clinical severity in Hunter syndrome. Finally, the storage of GAG in the brain can lead to delayed development with subsequent mental retardation. The rate and degree of progression may be different for each person with Hunter syndrome.[/FONT]

    [FONT=&amp]There is a broad range of severity in the symptoms of Hunter syndrome. It is important to note that though the term "mild" is used by physicians in comparing people with Hunter syndrome, the effects of even mild disease are quite serious. Two of the most significant areas of variability concern the degree of mental retardation and expected lifespan. Some people who have Hunter syndrome are not mentally retarded and live into their 20s or 30s; there are occasional reports of people who have lived into their 50s or 60s. The quality of life remains high in a large number of people, and many adults are actively employed.[citation needed] In contrast, others with Hunter syndrome develop severe mental impairment and have life expectancies of 15 years or fewer.[/FONT]
    [/TD]
    [/TR]
    [TR]
    [TD="width: 587"] [FONT=&amp]Treatment[/FONT]
    [FONT=&amp]Enzyme replacement therapies are currently in use, BioMarin Pharmaceutical provides therapeutics for mucopolysaccaradosis type I (MPS I), by manufacturing [/FONT][FONT=&amp]laronidase (Aldurazyme),[/FONT][FONT=&amp]commercialized by Genzyme. Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain.[/FONT]
    [FONT=&amp]Bone marrow transplantation (BMT) and umbilical cord blood transplantation (UCBT) can be used as treatments for MPS. Abnormal physical characteristics, except for those affecting the skeleton and eyes, can be improved, and neurologic degeneration can often be halted. BMT and UCBT are high-risk procedures with high rates of morbidity and mortality. There is no cure for MPS I.[/FONT]




    [/TD]
    [TD="width: 522"] [FONT=&amp]Treatment[/FONT]
    [FONT=&amp]For a long time, the most efficient approach has been to use bone marrow graft. It has the advantage of procuring a new source of the missing I2S. However, the results have been considered imperfect at best.[/FONT]
    [FONT=&amp]While the treatment is able to stop most of the symptoms, it is nearly totally inefficient against the brain symptoms of the Hunter syndrome patients. Mostly, this translates in much improved life expectancy, much improved life conditions but it does not solve the mental deficiencies of the patients.[/FONT]
    [FONT=&amp]However, bone marrow graft is a major intervention with several adverse effects including life threatening risks for the patient. Because of these reasons, grafts have seen a decrease in their application as Hunter syndrome treatment.[/FONT]
    [FONT=&amp]a synthetic version of I2S, called [/FONT][FONT=&amp]Elaprase[/FONT][FONT=&amp] (Idursulfase), was approved by the United States Food and Drug Administration as an enzyme replacement treatment for Hunter syndrome. Elaprase is a purified form of the lysosomal enzyme iduronate-2-sulfatase and is produced by recombinant DNA technology in a human cell line.[/FONT]

    [​IMG]

    [/TD]
    [/TR]
    [/TABLE]

    [​IMG]



    ref - wiki
     

    Last edited: Dec 23, 2012
    avik1310 likes this.
  8. neo_star

    neo_star Moderator

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    MCQ challenge related to this topic


    [FONT=&amp]A 12-month-old female exhibits severe developmental delay with associated macrocephaly, dysmorphic facies, hypotonia, and hepato-splenomegaly. Clouding of the corneas is not evident. A pebbly ivory-colored lesion is present over the infant's back. The activity of iduronate sulfatase in the plasma is not detectable. These symptoms are indicative of which mucopolysaccharidosis?

    [/FONT]
    [FONT=&amp]A. hunter[/FONT]
    [FONT=&amp]B. hurler[/FONT]
    [FONT=&amp]C. Maroteaux-Lamy[/FONT]
    [FONT=&amp]D. Morquio B[/FONT]
    [FONT=&amp]E. Sanfilippo A[/FONT]

    [FONT=&amp]EXPLANATION:

    [/FONT]


    [FONT=&amp]Although multiorgan involvement, liver and spleen enlargement, and skeletal abnormalities are common to all the mucopolysaccharidotic (MPS) diseases, each encompasses specific and unique features. Each different MPS is caused by defects in different enzymes which allows for specific diagnosis.

    [/FONT]


    [FONT=&amp]Hunter syndrome[/FONT][FONT=&amp] is characterized by progressive multiorgan failure and premature death. Hallmark features include enlargement of the spleen and liver, severe skeletal deformity, and coarse facial features (which are associated with the constellation of defects referred to as dystosis multiplex). Unlike Hurler syndrome, the symptoms of which are similar (but more severe), Hunter syndrome does not cause corneal opacities. Hunter syndrome results from a defect in iduronidate sulfatase activity and this activity can be measured in the plasma.

    [/FONT]


    [FONT=&amp]Hurler syndrome[/FONT][FONT=&amp] (choice B) has features similar to Hunter, but with the added symptom of corneal clouding. Hurler syndrome results from a defect in alpha-L-iduronidase.

    [/FONT]


    [FONT=&amp]Maroteaux-Lamy syndrome[/FONT][FONT=&amp] (choice C) encompasses symptoms similar to Hurler syndrome, but with normal mental development. Maroteaux-Lamy syndrome results from a defect in N-acetylgalactosamine-4-sulfatase (also called arylsulfatase B).

    [/FONT]


    [FONT=&amp]Morquio syndrome[/FONT][FONT=&amp] (choice D) comprises two related disorders (Morquio A and B), both of which are characterized by short-trunk dwarfism, fine corneal deposits, and a skeletal dysplasia (spondyloepiphyseal) distinct from other MPS. Morquio B results from a defect in beta-galactosidase.

    [/FONT]


    [FONT=&amp]Sanfilippo syndrome[/FONT][FONT=&amp] (choice E) comprises four recognized types (A, B, C, and D), all of which result from defects in the degradation of heparan sulfates. Sanfilippo syndromes are characterized by severe CNS degeneration with only mild involvement of other organ systems. Symptoms do not appear until 2–6 years of age. Sanfilippo A is the result of defects in alpha-N-acetyl-D-glucosaminidase.[/FONT]


    [FONT=&amp]The answer is A.[/FONT]
     

  9. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    Answer : Hurler syndrome
     

  10. neo_star

    neo_star Moderator

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    Another Self Assessment Question

    [FONT=&amp]A 1-year-old boy presents with the complaint from his parents of "not developing normally." He was the product of an uneventful term pregnancy and delivery, and reportedly was normal at birth. His previous health-care provider noted his developmental delay, and also noted that the child seemed to have an enlarged spleen and liver. On your examination, you confirm the developmental delay and the hepatosplenomegaly, and also notice that the child has short stature, macrocephaly, hirsutism, a coarse facies, and decreased joint mobility. Which of the following is the most likely etiology of his condition?[/FONT]

    [FONT=&amp]A. Beckwith-Wiedemann syndrome[/FONT]
    [FONT=&amp]B. Crouzon syndrome[/FONT]
    [FONT=&amp]C. Trisomy 18 (Edwards syndrome)[/FONT]
    [FONT=&amp]D. Jeune syndrome[/FONT]
    [FONT=&amp]E. Hurler syndrome[/FONT]

    [FONT=&amp]EXPLANATION: [/FONT]

    [FONT=&amp]
    Patients born normal who then have progressive developmental delay and hepatosplenomegaly with coarse facial features are likely to have a storage disease. [/FONT]

    [FONT=&amp]Hurler syndrome, mucopolysaccharidosis type I,[/FONT][FONT=&amp] is an autosomal condition caused by a deficiency of [/FONT][FONT=&amp]α[/FONT][FONT=&amp] -L-iduronidase which causes a deposition of dermatan sulfate and heparan sulfate in the body, and excessive excretion in the urine. Other features of this condition include umbilical hernia, kyphoscoliosis, deafness, cloudy corneas, and claw hand deformity. Death is common in childhood, a result of respiratory or cardiac compromise.[/FONT]
    [FONT=&amp]In none of the other choices would one expect to see the development of hepatosplenomegaly or a loss of normal childhood developmental milestones. [/FONT]

    [FONT=&amp]Jeune syndrome (asphyxiating thoracic dystrophy)[/FONT][FONT=&amp] is notable for short stature, long and narrow thorax, hypoplastic lungs, fibrotic liver, and short limbs. Death is common, a result of pneumonia or asphyxia because of the abnormally shaped thorax. [/FONT]

    [FONT=&amp]Crouzon syndrome[/FONT][FONT=&amp] is an autosomal dominant condition that results in craniosynostosis (usually coronal), proptosis, brachycephaly, hypertelorism and strabismus, "beak" nose, midface hypoplasia, and high and narrow palate. [/FONT]

    [FONT=&amp]Trisomy 18 (Edwards syndrome)[/FONT][FONT=&amp] is a condition marked by low birth weight, low-set and malformed ears, micrognathia, clenched hands with overlapping digits, a variety of cardiac defects, and poor subcutaneous fat deposition. About 50% of children with the condition die in the first weeks of life, and less than 10% survive beyond the first year; severe mental retardation is uniform. [/FONT]

    [FONT=&amp]At birth patients with Beckwith-Wiedemann syndrome are macrosomic with macroglossia, abdominal wall defects, linear ear creases, and organomegaly; they often have hypoglycemia in the newborn period. They have an increased incidence of developing malignancy, especially Wilms tumor, hepatoblastoma, and gonadoblastoma. Intellect is usually normal.

    [/FONT]

    [FONT=&amp]The answer is E[/FONT]
     

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