Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Apr 4, 2013.
what is your medical diagnosis for this case ?
Noonan Syndrome with gastric feeding tube probably due to difficulty swallowing and poor appetite (commonly seen in Noonan).
Xtra Edge on Noonan Syndrome
Human growth hormone has resulted in improvement in growth velocity comparable to that seen in patients with Turner syndrome without adverse effects on cardiac ventricular wall thickness. Increased adult height after growth hormone treatment has been reported in a few patients. Patients with Noonan syndrome and demonstrable PTNP11 mutations grow less well and are less responsive to growth hormone treatment than those without mutations. They have lower insulin-like growth factor-1 and higher growth hormone levels, suggesting the possibility of partial growth hormone resistance due to postreceptor signaling defects.
for feeding difficulty and possible solutions refer here - http://www.noonansyndrome.co.uk/docs/pdf_docs/Feeding_Problems_in_NS_2004_Website.pdf
ref- Nelson Pediatrics, 19th ed, chp 577
3 syndromes that closely mimic NS
Phenotypic features of NS overlap with other syndromes involving the RAS-MAPK pathway, such as Leopard syndrome and cardio-facio-cutaneous syndrome.
Answer : Noonan Syndrome
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