De Morsier Syndrome

septo-optic dysplasia

Kawasi disease

Kawasaki disease is an acute febrile vasculitis of unknown etiology. Epidemics in young children occur in the late winter and spring, with the highest incidence among individuals of Japanese descent. There are 3 distinct stages. In the acute stage (1-11 days), patients develop high fevers (> 100° F), ocular changes (conjunctivitis, anterior uveitis), perianal erythema, acral edema and erythema, oropharyngeal changes (strawberry tongue, hyperemia, fissuring), and lymphadenopathy. In the subacute stage (11-30 days), there may be persistent irritability, anorexia, conjunctival injection, thrombocytosis, acral desquamation (shown), and aneurysmal formation.

Ewing sarcoma

Ewing sarcoma is a tumor thought to derive from cells of the neural crest. Translocation t (11;22) or one of a series of related translocations is present in more than 95% of these sarcomas. Ninety percent of the tumors are first diagnosed in early age, usually in the second decade. Ewing sarcoma frequently presents as localized painful mass. Tumors of the long bones may present with pathologic fractures. 

Legg-Calve-Perthes

Legg-Calvé-Perthes disease is osteonecrosis of the capital femoral epiphysis. It is a self-limited disease that affects 1 in 1200 children in the 5- to 10-year age range, with a median age of 7 years. It is 4-5 times more frequent in males and is usually unilateral. The cause is unclear but is probably related to the interruption of the blood supply to the femoral epiphysis. 

Osgood-Schlatter disease

Osgood-Schlatter disease  is one of the most frequent causes of knee pain in adolescents. The condition is probably related to repetitive trauma (as from chronic jumping or similar strenuous exercise) on a developing tibial tuberosity. This can lead to avulsion or fragmentation of the tibial tuberosity, heterotopic bone formation, thickening of the distal patellar tendon, and considerable soft-tissue swelling. Osgood-Schlatter disease presents with considerable focal pain and a palpable subcutaneous lump in the region of the tibial tuberosity. The condition is often seen in association with a rapid growth spurt.