complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations 3
complex cortical dysplasia with other brain malformations 4
complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations 6
Congenital Hepatic Fibrosis
Congenital Pain Insensitivity +
desquamative interstitial pneumonia
Dwarfism +
Familial Cirrhosis +
Familial Dysalbuminemic Hyperthyroxinemia
Familial Hemophagocytic Lymphohistiocytoses +
Hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder, is characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation. (OMIM)