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Is there something seriously wrong with my child?

Q: My son is 16 months old and has been going through a series of problems. He cannot lie down comfortably and has spasms every 8 minutes. He cries in pain. I had taken him to Children's Hospital of Buffalo and one of his tests for Alkaline Phosphate came back at a level of 8,700. Children's ran him through a series of tests, but cannot find the problem. He was admitted to the hospital for the week to allow them to keep running the tests - liver and bone came up clear, but he continues to be uncomfortable. They have found enlarged nodes in his stomach and enlarged nodes under his arm and in his groin. Now I am told from out of nowhere that his tissue by his adenoids is inflammed and his adenoids and tonsils are too. A week ago they were not. It seems as though everything is now getting infected and there are no answers. Friends have told me to take him to Strong Memorial, but I don't know what to do? A specialist at Children's had mentioned that it could be a disease being masked by something else, but gave me no direction and told me to pursue it due to the high number which by the way had been tested several times throughout the week to make sure there was no mistake. Can you please give me some advice? I am very concerned and everything points to no great solution?

A:I could have helped you better if you had provided more clinical details of the illness rather than the test results. General weakness of sudden onset especially involving the limbs and muscles can occur in inflammatory disorders of muscles and joints and rarely bones. Spasms are unusual unless there is an abnormality in the calcium-phosphorus homeostasis of the body. Elevated alkaline phosphatase in the serum can be due to several reasons but such very high levels are usually seen in metabolic conditions such as resistant rickets or hyperphosphatasia. Radiological evaluation and further studies of the enzyme and calcium-phosphate-PTH system can help in the diagnosis. I presume that these have been done. None of these disorders are associated with lymph node enlargement. Adenoid inflammation is unusual at such a young age, but is not the reason for his muscle weakness or spasms. This could be just an association of two uncommon diseases at such a young age. Inflammation of the adenoids can be treated with antibiotics and other supportive measures, but tends to recur. But the finding of enlarged lymph nodes (I presume this is so from the description you have given) in the abdomen and axillae suggest a much more serious illness requiring evaluation including CT/MRI scan of abdomen and lymph node biopsy, especially because there is no diagnosis so far. This observation needs special attention. Please contact an expert in metabolic diseases in children for further help.


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