Neuroimaging Features of San Luis Valley Syndrome

Table 1

Brain abnormalities in patients with SLVS Rec(8) and duplication 8q.

Author		Defect	Method of analysis	Midline defects	BS	CB	Cephalocele	CSF spaces	Myelin	WM lesions	V
Whitehead; (our patient)	1	Rec(8)a	MR	CCD; HAC; IHA	Yes	Yes	No	VM; SE	WNL	Yes	Yes
Sujansky et al. [3]	15	Rec(8)a	CT/US; (); MR; ()	CCD; (1/15)	NM	NM	No	VM (13/15); SE (8/13)	Delay (4/4)	NM	NM
Vera-Carbonell et al. [6]	1	Rec(8)b	MR	NM	NM	NM	NM	VM	NM	NM	NM
Williams et al. [7]	9	Rec(8)a; (); Rec(8)c; (); U; ()	Path	CCT; U; (1/4)	Yes; (Pons); U (1/4)	NM	Yes; (OE); U (1/4)	Hydro; U (1/4)	NM	Yes; (HIE); Rec(8a); (2/4); U; (2/4)	NM
Nucaro et al. [8]	1	Rec(8)d	MR	NM	NM	NM	NM	NM	NM	PVL	NM
Wheeler [9]	1	Dup(8)a	US	WNL	No	No	No	WNL	NA	No	NA
Concolino et al. [10]	1	Dup(8)b	MR	NM	NM	NM	Yes; (FM)	NM	NM	NM	NM

= number of patients, BS = brainstem malformation, CB = cerebellar malformation, WM = white matter, V = vasculopathy, MR = magnetic resonance imaging, CT = computed tomography, US = ultrasound, Path = histopathology, CCD = corpus callosum dysgenesis, CCT = corpus callosum thinning, HAC = hypoplastic anterior commissure, IHA = interhypothalamic adhesion, NM = not mentioned, NA = not assessed, WNL = within normal limits, OE = occipital encephalocele, FM = frontal meningocele, VM = ventriculomegaly, SE = subarachnoid space enlargement, hydro = hydrocephalus, HIE = hypoxic ischemic encephalopathy, PVL = periventricular leukomalacia.
Rec(8)a = Rec(8)dup(8q)inv(8)(p23.1q22.1);
Rec(8)b = Rec(8)dup(8q)inv(8)(p23.2q22.3)mat.ish rec(8)(wcp8þ).mlpa 8psubtel(P036) × 1,8qsubtel(P036) × 3.arr 8p23.3p23.2(1–2,274,223) × 1,8q22.3q24.3(104,430,376–146,364,022) × 3;
Rec(8)c = Rec(8)dup(8q)inv(8)(p23q23);
Rec(8)d = InvDupDel 8p(dup 8p22–p23.1/del 8p23.2-pter);
Dup(8)a = Dup (8)(q23.3q24.21);
Dup(8)b = Dup (8)(q22.2–24.3)(q24.21), 8q22.2 (RP11-102K7 clone-101.2Mb) to 8q24.3 (RP11-120B22 clone-144.3Mb);
U = unknown or unconfirmed.