Increased Kidneys - Pediatric Oncall

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

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Question
Ivona, 19 months old baby girl was born with 6 toes, and diagnosed with increased kidneys (they were not fully developed) and hypocalcaemia; she was treated at the University Child Hospital in Belgrade, Serbia. She was released from the hospital after 7 days, without any particular diagnosis, and parents were advised to continue to bring her for regular check-ups. Regular pediatric check-ups did not find anything irregular. Over time, her kidneys have developed to the right size, and her level of calcium was normalized. Within the first two months, when only breast fed, she weighted 7.2Kg (3.5 kg at birth), and even today, she continues to have a high appetite for her age. Compared to other kids of her age, she sleeps less, cries a lot, and hasn't lost any weight, after being put on reduced calories diet. She started walking when she was 16 months old, and isn't as stable as should be, she is also unable to get from a sitting to a standing position. Until now, she hasn't spoken a single words, the only sound she makes is when she cries. She doesn't react to calls (and her hearing is fine, as confirmed by ear specialists). When Ivona was 18 months old, child psychologist confirmed that Ivona is falling behind in her development, and that she is at the level of 11 months old baby. She is also diagnosed with strabismus, astigmatism, and shortsighted on one eye. Neurologist suggested that she may have metabolic abnormalities related to amino acids and the blood analyses. In the meantime, as we are still waiting for the blood results and final diagnosis, dialectologist-physical therapist are working with her every other day, 45 minutes and she attends toddler school for an hour per day, but only cries and shows no interest in the other kids. She is drinking plenty amounts of liquids, mostly water. I believe her baby bottle has more of a calming effect, than she is thirsty. She is almost constantly crying, very sadly, like she is asking for help, but we are unable to do so. She loves to be comforted, reaches to everyone, no matter if it a stranger or close relative. When her parents are back from work, she doesnt react, interact with them, or doesnt show any signs of happiness, as she doesnt recognize them as her parents. On the other hand, she looks for her water bottle, and cries when she doesn't find it.
Answer
Rule out LINEAR SEBACEOUS NEVUS SEQUENCE and AUTISM. Back to All Questions

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