Table 2 Demographic distributions and clinical findings - The demographic distribution are found in the upper table and the clinical findings regarding, mucocutaneous, muskuloskeletal, ocular, gastrointestinal, lymphoproliferation and neurological are described
From: A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2)
Demographic Data | |
|---|---|
Sex | Frequency (number) |
Female | 67% (n = 12/18) |
Age and delay in diagnosis | Median (Min; Max – years) |
Age onset symptoms (years) | 5,5 (0,5–16) |
Delay in diagnosis (years) | 9,5 (1,5–30) |
Clinical Data % (n) | |
Fever | 73% (n = 13/18) |
Continuous pattern | 73% (n = 13/18) |
Mucocutaneous | 94% (n = 17/18) |
Oral ulceration | 34% (n = 6/18) |
Multiple skin lesions (macula, urticaria) | 34% (n = 6/18) |
Palpable purpuric skin lesion | 34% (n = 6/18) |
Livedo reticularis | 62% (n = 11/18) |
Subcutaneous nodules | 5% (n = 1/18) |
Muskuloskeletal | 50% (n = 9/18) |
Artralgia | 45% (n = 8/18) |
Myalgia | 34% (n = 6/18) |
Ocular | 34% (n = 6/18) |
Periorbital edema | 12% (n = 2/18) |
Conjunctivitis | 17% (n = 3/18) |
Optic neuritis | 17% (n = 3/18) |
Gastrointestinal | 45% (n = 8/18) |
Abdominal pain | 45% (n = 8/18) |
Colitis/gastrointestinal ulcers | 12% (n = 2/18) |
Lymphoproliferation | 34% (n = 6/18) |
General lymphadenopathy | 23% (n = 4/18) |
Hepatomegaly and splenomegaly | 23% (n = 4/18) |
Isolated splenomegaly | 12% (n = 2/18) |
Neurological | 89% (n = 16/18) |
Ischemic Stroke | 61% (n = 11/18) |
Hemorrhagic Stroke | 5% (n = 1/18) |
Peripheral neurological involvement | 45% (n = 8/18) |
Chronic sequelae | 50% (n = 9/18) |
Intellectual disabilities | 17% (n = 3/18) |
Seizures | 24% (n = 4/18) |
Sensitive/Motor peripheral neuropathy | 24% (n = 4/18) |
Diplopia | 12% (n = 2/18) |