Hypotonia, Hyperflexibility and Developmental Delays

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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Question
Dear Doctor This is regarding my 9 month old daughter, who, at the time of birth was diagnosed with hypotonia, hyperflexibility of joints and cynosis. Now she is having developmental delays and poor muscle tone. She smiles but cannot sit without support. She has been able to support the neck just a month back. She has short limbs, funnel shaped chest, small & inverted nipples. Her blood chemistry is as low. 1. Free T3 - 2.27 pg/ml 2. Free T4 - 0.92 ng/dl 3. TSH (Third generation) - 2.03 ulU/ml 4. Serum Calcium (Conventional)- 0.7 mg/dl 5. Alkaline Phosphatase(Conventional) - 229.00 U/l 6. Phosphorus (Conventional) - 14.40 mg/dl 7. Red Cell Count - 2.95 10^12/l 8. Hemoglobin - 7.1 g/dl 9. Hematocrit - 21.50 % 10. MCV - 72.90 fl 11. MCH - 24.10 pg 12. Lymphocytes - 55.00 % 13. RBC - Mild anisopoikilocytosis. Predominantly microcytic hypochromic with ovalocytes. 14. WBC - Eosinophilia present . Her skeletal survey is normal. EMG and NCV is normal. 2D echo of the heart is normal. She is having motor delays and excessive sweating in the head. She vomits too often and is having a narrow face. Can we pin point the syndrome she is having or she is having some nutritional/vitamin deficiency???
Answer
It will be difficult to pinpoint a syndrome without having a look at the child. However a karyotype may be useful. Also her serum calcium and phosphorus seems to be abnormal. Get it rechecked. Rule out rickets. Back to All Questions

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