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Sara was initially seen in the Genetics clinic by Dr. B on April 25th for evaluation of right hemihypertrophy, history of hydronephrosis and lymphedema. At that time, an etiology for her features could not identified although several studies were recommended. He recommended she follow up with Genetics in 3-6 months.
Due to Sara's hemihypertrophy of unknown etiology, Dr. B recommended she continue on the Wilms tumor protocol involving abdominal ultrasounds every 3 months until age 10 years. Her last ultrasound noted a slight increase in bilateral hydronephrosis, but no abdominal masses. Her hemihypertrophy involves the lower right extremity, hip, and genitalia (mainly her foot). She also has fine hair over the extremity. Her mother has not noticed a significant difference in her hemihypertrophy over the last 6 months.
Sara is followed by TCH Urology for her bilateral hydronephrosis. At her last evaluation, Dr. F recommended monitoring Sara's hydronephrosis with serial imaging every 3 months. He did not recommend any surgical intervention as he thought it would likely resolve spontaneously. Since the hydronephrosis was detected at 6-7 weeks of age, it has remained stable without any improvement. Sara's next evalution, including ultrasound and nuclear medicine renal MAG3 scan with Lasix, is planned for September.
Recently, Sara has developed >6 cafe au lait macules. She has no other neurocutaneous stigmata.
Sara has not had a formal ophthalmology evalution but her parents do not have any vision concerns.
High resolution chromosome analysis with extended metaphase analysis to rule out mosaicism (June '07) : Normal female karyotype (46, XX) with no evidence of mosaicism.
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Differential diagnosis would include Klippel-Trenaunay syndrome, Proteus syndrome, NF1 and unspecified mosaicism. Her lymphatic dysplasia is consistent with KT syndrome but she does not have venous malformations of substantial port-wine stains which are common and usually the most prominent feature of the disorder.
It goes on to mention the size of her head (a little too big I guess) and yet another chromosome test (PTEN).
