Table 2.

Additional clinical features in individual patient with the homozygous mutation in SAMHD1 gene

Neuroimaging study findings
PatientSexInitial presentationAge at study, yHt at study, cm (per)Other significant clinical historyWM changeAneurysmsStenosesIschemic changeVolume lossAge at imaging, y
X-1MFTT, chilblain18142 (<1)Recovered from aneurysmal rupture at 17 y old, now farmingMild–mod++17
X-3MFTT, chilblain13131 (<1)Normal schoolingMild–mod12
X-4MFTT, chilblain11119 (<1)Normal schoolingModMild11
X-13MFTT, mild DD12, died125 (<1)Glaucoma, died from recurrent strokesMod–severeMM+Mild12
X-15FFTT, mild DD13, died139 (<1)Glaucoma, died from recurrent strokesSevere++13
X-16MFTT, mild DD10119 (<1)History of strokeModMM+Mild–Mod8
X-19FCP, severe DD25N/AHistory of possible stroke, severe spasticity
X-27Marthritis21168 (10)Working as a carpenter+20
X-28Marthritis17160 (2)Working as a carpenterMMMild16
X-29FCP, severe DD15122 (<1)History of possible stroke, glaucoma, spasticityModN/AN/AMild–Mod4
X-33Mstroke9104 (<1)Stroke at 5 mo old, recurrent strokes, spasticityMod–severeMM+0.5
X-34Mstroke8116 (2)Stroke at 11 mo oldMild–modN/AN/AMild5
X-35Fstroke271 (<1)Stroke at 3 mo old
X-38MnoneNewborn48 (25)Found through requested DNA testing
  • Per, percentile; Ht, height; WM, white matter; M, male; F, female; FTT, failure to thrive; DD, developmental delay; CP, cerebral palsy; mod, moderate; MM, moyamoya pattern; +, present; −, negative finding; N/A, no data are available.