case_images: PMC10927042_01
case_images: Case 1 - A 12-year-old female child with Moyamoya disease presented with left-side weakness. (a-f): Magnetic resonance imaging (MRI) (a and b): Fluid-attenuated inversion recovery (a) showed leptomeningeal collaterals (white arrow) and perfusion deficits (white arrow) in the left frontal lobe on arterial spin labeling image (b). Digital subtraction angiography (DSA) image (c-f), right common carotid artery (CCA) (c), and left CCA (d) showed narrowing of both supraclinoid internal carotid arteries (ICAs) (white arrows) with multiple basal collaterals and right vertebral artery (VA) (e and f) showing multiple leptomeningeal and pial collaterals reforming middle cerebral artery (MCA) and anterior cerebral artery (ACA) branches (white arrows). Case 2 - A 10-year-old male child with Moyamoya syndrome presented with right side weakness. (g-l) Clinical image (g) showed cafe-au-lait macule (white arrow), MRI image (h) multiple basal collaterals (red circle) and time of flight circle of Willis (i) showed narrowing of both supraclinoid ICAs with basal collaterals. DSA image (j-l): Right CCA (j) and left CCA (k) showed narrowing of both supraclinoid ICAs with multiple basal collaterals (white arrows) and right VA (l) showed multiple leptomeningeal and pial collaterals reforming MCA and ACA branches. Case 3 - A 25-year-old female with arteriovenous malformation (AVM) presented with swelling in the right side upper neck. (m-r): Clinical image (m) showed a melanotic patch in the right cervical region (white arrow). MRI image (n-r): Axial T2 (n), T1 (0) image showed multiple abnormal dilated vessels (white arrows). Time-of-flight images (p) and CRMRA (q) showed multiple dilated vessels on the right side of the neck, likely AVM (white arrow). Postcontrast T1 (r) showed focal enhancement within the lesion (white arrow). Case 4 - A 42-year-old male with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy presented with a headache. MRI brain (s-x): Axial fluid-attenuated inversion recovery (s-u), diffusion-weighted imaging (v), susceptibility-weighted imaging (w), T1PC (x) showed multiple lacunar infarcts (white arrows in t,u), white matter changes (white arrows in s,t,u), predominantly in the anterior temporal lobe, external capsule and microbleeds in basal ganglia (white arrow).
case_images: JCIS-14-3-g002.jpg
case_images: PMC10927042_04_JCIS-14-3-g002.jpg
case_images: F2
case_images: MCA territory for 1 year. MRI brain showed white matter changes, predominantly in the anterior temporal pole and external capsule, chronic lacunar infarcts, and microbleeds consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [Figure 2s-x].
case_images: PMC10927042_02
case_images: Case 1 - A 12-year-old female child with Moyamoya disease presented with left-side weakness. (a-f): Magnetic resonance imaging (MRI) (a and b): Fluid-attenuated inversion recovery (a) showed leptomeningeal collaterals (white arrow) and perfusion deficits (white arrow) in the left frontal lobe on arterial spin labeling image (b). Digital subtraction angiography (DSA) image (c-f), right common carotid artery (CCA) (c), and left CCA (d) showed narrowing of both supraclinoid internal carotid arteries (ICAs) (white arrows) with multiple basal collaterals and right vertebral artery (VA) (e and f) showing multiple leptomeningeal and pial collaterals reforming middle cerebral artery (MCA) and anterior cerebral artery (ACA) branches (white arrows). Case 2 - A 10-year-old male child with Moyamoya syndrome presented with right side weakness. (g-l) Clinical image (g) showed cafe-au-lait macule (white arrow), MRI image (h) multiple basal collaterals (red circle) and time of flight circle of Willis (i) showed narrowing of both supraclinoid ICAs with basal collaterals. DSA image (j-l): Right CCA (j) and left CCA (k) showed narrowing of both supraclinoid ICAs with multiple basal collaterals (white arrows) and right VA (l) showed multiple leptomeningeal and pial collaterals reforming MCA and ACA branches. Case 3 - A 25-year-old female with arteriovenous malformation (AVM) presented with swelling in the right side upper neck. (m-r): Clinical image (m) showed a melanotic patch in the right cervical region (white arrow). MRI image (n-r): Axial T2 (n), T1 (0) image showed multiple abnormal dilated vessels (white arrows). Time-of-flight images (p) and CRMRA (q) showed multiple dilated vessels on the right side of the neck, likely AVM (white arrow). Postcontrast T1 (r) showed focal enhancement within the lesion (white arrow). Case 4 - A 42-year-old male with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy presented with a headache. MRI brain (s-x): Axial fluid-attenuated inversion recovery (s-u), diffusion-weighted imaging (v), susceptibility-weighted imaging (w), T1PC (x) showed multiple lacunar infarcts (white arrows in t,u), white matter changes (white arrows in s,t,u), predominantly in the anterior temporal lobe, external capsule and microbleeds in basal ganglia (white arrow).
case_images: JCIS-14-3-g002.jpg
case_images: PMC10927042_04_JCIS-14-3-g002.jpg
case_images: F2
case_images: MCA territory for 1 year. MRI brain showed white matter changes, predominantly in the anterior temporal pole and external capsule, chronic lacunar infarcts, and microbleeds consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [Figure 2s-x].
case_images: PMC10927042_03
case_images: Case 1 - A 12-year-old female child with Moyamoya disease presented with left-side weakness. (a-f): Magnetic resonance imaging (MRI) (a and b): Fluid-attenuated inversion recovery (a) showed leptomeningeal collaterals (white arrow) and perfusion deficits (white arrow) in the left frontal lobe on arterial spin labeling image (b). Digital subtraction angiography (DSA) image (c-f), right common carotid artery (CCA) (c), and left CCA (d) showed narrowing of both supraclinoid internal carotid arteries (ICAs) (white arrows) with multiple basal collaterals and right vertebral artery (VA) (e and f) showing multiple leptomeningeal and pial collaterals reforming middle cerebral artery (MCA) and anterior cerebral artery (ACA) branches (white arrows). Case 2 - A 10-year-old male child with Moyamoya syndrome presented with right side weakness. (g-l) Clinical image (g) showed cafe-au-lait macule (white arrow), MRI image (h) multiple basal collaterals (red circle) and time of flight circle of Willis (i) showed narrowing of both supraclinoid ICAs with basal collaterals. DSA image (j-l): Right CCA (j) and left CCA (k) showed narrowing of both supraclinoid ICAs with multiple basal collaterals (white arrows) and right VA (l) showed multiple leptomeningeal and pial collaterals reforming MCA and ACA branches. Case 3 - A 25-year-old female with arteriovenous malformation (AVM) presented with swelling in the right side upper neck. (m-r): Clinical image (m) showed a melanotic patch in the right cervical region (white arrow). MRI image (n-r): Axial T2 (n), T1 (0) image showed multiple abnormal dilated vessels (white arrows). Time-of-flight images (p) and CRMRA (q) showed multiple dilated vessels on the right side of the neck, likely AVM (white arrow). Postcontrast T1 (r) showed focal enhancement within the lesion (white arrow). Case 4 - A 42-year-old male with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy presented with a headache. MRI brain (s-x): Axial fluid-attenuated inversion recovery (s-u), diffusion-weighted imaging (v), susceptibility-weighted imaging (w), T1PC (x) showed multiple lacunar infarcts (white arrows in t,u), white matter changes (white arrows in s,t,u), predominantly in the anterior temporal lobe, external capsule and microbleeds in basal ganglia (white arrow).
case_images: JCIS-14-3-g002.jpg
case_images: PMC10927042_04_JCIS-14-3-g002.jpg
case_images: F2
case_images: MCA territory for 1 year. MRI brain showed white matter changes, predominantly in the anterior temporal pole and external capsule, chronic lacunar infarcts, and microbleeds consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [Figure 2s-x].
case_images: PMC10927042_04
case_images: Case 1 - A 12-year-old female child with Moyamoya disease presented with left-side weakness. (a-f): Magnetic resonance imaging (MRI) (a and b): Fluid-attenuated inversion recovery (a) showed leptomeningeal collaterals (white arrow) and perfusion deficits (white arrow) in the left frontal lobe on arterial spin labeling image (b). Digital subtraction angiography (DSA) image (c-f), right common carotid artery (CCA) (c), and left CCA (d) showed narrowing of both supraclinoid internal carotid arteries (ICAs) (white arrows) with multiple basal collaterals and right vertebral artery (VA) (e and f) showing multiple leptomeningeal and pial collaterals reforming middle cerebral artery (MCA) and anterior cerebral artery (ACA) branches (white arrows). Case 2 - A 10-year-old male child with Moyamoya syndrome presented with right side weakness. (g-l) Clinical image (g) showed cafe-au-lait macule (white arrow), MRI image (h) multiple basal collaterals (red circle) and time of flight circle of Willis (i) showed narrowing of both supraclinoid ICAs with basal collaterals. DSA image (j-l): Right CCA (j) and left CCA (k) showed narrowing of both supraclinoid ICAs with multiple basal collaterals (white arrows) and right VA (l) showed multiple leptomeningeal and pial collaterals reforming MCA and ACA branches. Case 3 - A 25-year-old female with arteriovenous malformation (AVM) presented with swelling in the right side upper neck. (m-r): Clinical image (m) showed a melanotic patch in the right cervical region (white arrow). MRI image (n-r): Axial T2 (n), T1 (0) image showed multiple abnormal dilated vessels (white arrows). Time-of-flight images (p) and CRMRA (q) showed multiple dilated vessels on the right side of the neck, likely AVM (white arrow). Postcontrast T1 (r) showed focal enhancement within the lesion (white arrow). Case 4 - A 42-year-old male with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy presented with a headache. MRI brain (s-x): Axial fluid-attenuated inversion recovery (s-u), diffusion-weighted imaging (v), susceptibility-weighted imaging (w), T1PC (x) showed multiple lacunar infarcts (white arrows in t,u), white matter changes (white arrows in s,t,u), predominantly in the anterior temporal lobe, external capsule and microbleeds in basal ganglia (white arrow).
case_images: JCIS-14-3-g002.jpg
case_images: PMC10927042_04_JCIS-14-3-g002.jpg
case_images: F2
case_images: MCA territory for 1 year. MRI brain showed white matter changes, predominantly in the anterior temporal pole and external capsule, chronic lacunar infarcts, and microbleeds consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [Figure 2s-x].
case_images: PMC10927042_05
case_images: Case 5 - A 5-year-old female child with ACTA2 mutation presented with the left- side weakness. Magnetic resonance imaging (MRI) (a-c): Axial fluid-attenuated inversion recovery (FLAIR) (a and b) showed basilar artery indentation over pons and chronic infarct in the right anterior watershed territory (white arrows). Time-of-flight (TOF) circle of Willis (COW) (c) showed a straightened appearance of the posterior cerebral artery (PCA) branches (white arrow). Digital subtraction angiography (DSA) image (d-f): Right common carotid artery (CCA) (d) and left CCA (e) showed narrowing of both supraclinoid internal carotid arteries (ICAs) with few basal collaterals (white arrows) and left vertebral artery (VA) (f) showed straightened appearance of the PCA branches. Case 6 - A 48-year-old male with pure arterial malformation presented with headache and transient Wernicke aphasia. MRI image (g-i): Axial T2 (g) image showed multiple abnormal dilated vessels in the right supraclinoid ICA (white arrow) and axial FLAIR (h) showed pachygyria over the cingulate cortex (white arrow). TOF COW (i) showed dilated right supraclinoid ICA and right pericallosal artery without abnormal veins and non-visualization of left ICA (white arrow). DSA image (j-l): Left CCA (j) run showed non-visualization of left ICA (white arrow) and used it as an ascending pharyngeal artery. Right CCA lateral (k) showed abnormally dilated arteries in the right supraclinoid ICA, pericallosal artery with aneurysm without abnormal draining vein (white arrow), and right VA (l) showing multiple collaterals and filling of the left middle cerebral artery (MCA) through the left posterior communicating artery. Case 7 - A 15-year-old male with bilateral segmental dysgenesis of ICA presented with a headache and one episode of loss of consciousness. MRI image (m-o): Axial T2 (m) image showed multiple abnormal dilated vessels in the quadrigeminal cistern (white arrow). TOF COW (n) showed focal non-visualization of the ophthalmic segment of both ICAs (red circle). FLAIR (o) showed no obvious abnormality. DSA image (p-r): Left CCA (p), and right CCA (q) showed focal dysgenesis of the ophthalmic segments of both ICAs (white arrows in p,q) and left VA (r) showing multiple pial collaterals reconstituting MCA and ACA branches (white arrow). Case 8 - A 55-year-old male with cerebrofacial arteriovenous metameric syndrome (CAMS) type 2 presented with headache, vomiting, and loss of consciousness. Non-contrast computed tomography (NCCT) head (s), MRI brain (s-w): Axial T2 (t), T1 (u), showed focal bleed in the right posterior temporal lobe (white arrow). DSA image AP (v) and lateral (w) showed arteriovenous malformation (AVM) in the right posterior temporal lobe with feeder from the right posterior temporal artery and drainage into a vein of Labbe (white arrow). Fundoscopy (x) showed retinal AVM (white arrow). Features are suggestive of CAMS2.
case_images: JCIS-14-3-g003.jpg
case_images: PMC10927042_08_JCIS-14-3-g003.jpg
case_images: F3
case_images: AVMs right posterior temporal lobe, fed by a posterior temporal branch of right ICA [Figure 3s-x]. A combination of these findings suggests cerebrofacial arteriovenous metameric syndrome (CAMS) type 2.
case_images: PMC10927042_06
case_images: Case 5 - A 5-year-old female child with ACTA2 mutation presented with the left- side weakness. Magnetic resonance imaging (MRI) (a-c): Axial fluid-attenuated inversion recovery (FLAIR) (a and b) showed basilar artery indentation over pons and chronic infarct in the right anterior watershed territory (white arrows). Time-of-flight (TOF) circle of Willis (COW) (c) showed a straightened appearance of the posterior cerebral artery (PCA) branches (white arrow). Digital subtraction angiography (DSA) image (d-f): Right common carotid artery (CCA) (d) and left CCA (e) showed narrowing of both supraclinoid internal carotid arteries (ICAs) with few basal collaterals (white arrows) and left vertebral artery (VA) (f) showed straightened appearance of the PCA branches. Case 6 - A 48-year-old male with pure arterial malformation presented with headache and transient Wernicke aphasia. MRI image (g-i): Axial T2 (g) image showed multiple abnormal dilated vessels in the right supraclinoid ICA (white arrow) and axial FLAIR (h) showed pachygyria over the cingulate cortex (white arrow). TOF COW (i) showed dilated right supraclinoid ICA and right pericallosal artery without abnormal veins and non-visualization of left ICA (white arrow). DSA image (j-l): Left CCA (j) run showed non-visualization of left ICA (white arrow) and used it as an ascending pharyngeal artery. Right CCA lateral (k) showed abnormally dilated arteries in the right supraclinoid ICA, pericallosal artery with aneurysm without abnormal draining vein (white arrow), and right VA (l) showing multiple collaterals and filling of the left middle cerebral artery (MCA) through the left posterior communicating artery. Case 7 - A 15-year-old male with bilateral segmental dysgenesis of ICA presented with a headache and one episode of loss of consciousness. MRI image (m-o): Axial T2 (m) image showed multiple abnormal dilated vessels in the quadrigeminal cistern (white arrow). TOF COW (n) showed focal non-visualization of the ophthalmic segment of both ICAs (red circle). FLAIR (o) showed no obvious abnormality. DSA image (p-r): Left CCA (p), and right CCA (q) showed focal dysgenesis of the ophthalmic segments of both ICAs (white arrows in p,q) and left VA (r) showing multiple pial collaterals reconstituting MCA and ACA branches (white arrow). Case 8 - A 55-year-old male with cerebrofacial arteriovenous metameric syndrome (CAMS) type 2 presented with headache, vomiting, and loss of consciousness. Non-contrast computed tomography (NCCT) head (s), MRI brain (s-w): Axial T2 (t), T1 (u), showed focal bleed in the right posterior temporal lobe (white arrow). DSA image AP (v) and lateral (w) showed arteriovenous malformation (AVM) in the right posterior temporal lobe with feeder from the right posterior temporal artery and drainage into a vein of Labbe (white arrow). Fundoscopy (x) showed retinal AVM (white arrow). Features are suggestive of CAMS2.
case_images: JCIS-14-3-g003.jpg
case_images: PMC10927042_08_JCIS-14-3-g003.jpg
case_images: F3
case_images: AVMs right posterior temporal lobe, fed by a posterior temporal branch of right ICA [Figure 3s-x]. A combination of these findings suggests cerebrofacial arteriovenous metameric syndrome (CAMS) type 2.
case_images: PMC10927042_07
case_images: Case 5 - A 5-year-old female child with ACTA2 mutation presented with the left- side weakness. Magnetic resonance imaging (MRI) (a-c): Axial fluid-attenuated inversion recovery (FLAIR) (a and b) showed basilar artery indentation over pons and chronic infarct in the right anterior watershed territory (white arrows). Time-of-flight (TOF) circle of Willis (COW) (c) showed a straightened appearance of the posterior cerebral artery (PCA) branches (white arrow). Digital subtraction angiography (DSA) image (d-f): Right common carotid artery (CCA) (d) and left CCA (e) showed narrowing of both supraclinoid internal carotid arteries (ICAs) with few basal collaterals (white arrows) and left vertebral artery (VA) (f) showed straightened appearance of the PCA branches. Case 6 - A 48-year-old male with pure arterial malformation presented with headache and transient Wernicke aphasia. MRI image (g-i): Axial T2 (g) image showed multiple abnormal dilated vessels in the right supraclinoid ICA (white arrow) and axial FLAIR (h) showed pachygyria over the cingulate cortex (white arrow). TOF COW (i) showed dilated right supraclinoid ICA and right pericallosal artery without abnormal veins and non-visualization of left ICA (white arrow). DSA image (j-l): Left CCA (j) run showed non-visualization of left ICA (white arrow) and used it as an ascending pharyngeal artery. Right CCA lateral (k) showed abnormally dilated arteries in the right supraclinoid ICA, pericallosal artery with aneurysm without abnormal draining vein (white arrow), and right VA (l) showing multiple collaterals and filling of the left middle cerebral artery (MCA) through the left posterior communicating artery. Case 7 - A 15-year-old male with bilateral segmental dysgenesis of ICA presented with a headache and one episode of loss of consciousness. MRI image (m-o): Axial T2 (m) image showed multiple abnormal dilated vessels in the quadrigeminal cistern (white arrow). TOF COW (n) showed focal non-visualization of the ophthalmic segment of both ICAs (red circle). FLAIR (o) showed no obvious abnormality. DSA image (p-r): Left CCA (p), and right CCA (q) showed focal dysgenesis of the ophthalmic segments of both ICAs (white arrows in p,q) and left VA (r) showing multiple pial collaterals reconstituting MCA and ACA branches (white arrow). Case 8 - A 55-year-old male with cerebrofacial arteriovenous metameric syndrome (CAMS) type 2 presented with headache, vomiting, and loss of consciousness. Non-contrast computed tomography (NCCT) head (s), MRI brain (s-w): Axial T2 (t), T1 (u), showed focal bleed in the right posterior temporal lobe (white arrow). DSA image AP (v) and lateral (w) showed arteriovenous malformation (AVM) in the right posterior temporal lobe with feeder from the right posterior temporal artery and drainage into a vein of Labbe (white arrow). Fundoscopy (x) showed retinal AVM (white arrow). Features are suggestive of CAMS2.
case_images: JCIS-14-3-g003.jpg
case_images: PMC10927042_08_JCIS-14-3-g003.jpg
case_images: F3
case_images: AVMs right posterior temporal lobe, fed by a posterior temporal branch of right ICA [Figure 3s-x]. A combination of these findings suggests cerebrofacial arteriovenous metameric syndrome (CAMS) type 2.
case_images: PMC10927042_08
case_images: Case 5 - A 5-year-old female child with ACTA2 mutation presented with the left- side weakness. Magnetic resonance imaging (MRI) (a-c): Axial fluid-attenuated inversion recovery (FLAIR) (a and b) showed basilar artery indentation over pons and chronic infarct in the right anterior watershed territory (white arrows). Time-of-flight (TOF) circle of Willis (COW) (c) showed a straightened appearance of the posterior cerebral artery (PCA) branches (white arrow). Digital subtraction angiography (DSA) image (d-f): Right common carotid artery (CCA) (d) and left CCA (e) showed narrowing of both supraclinoid internal carotid arteries (ICAs) with few basal collaterals (white arrows) and left vertebral artery (VA) (f) showed straightened appearance of the PCA branches. Case 6 - A 48-year-old male with pure arterial malformation presented with headache and transient Wernicke aphasia. MRI image (g-i): Axial T2 (g) image showed multiple abnormal dilated vessels in the right supraclinoid ICA (white arrow) and axial FLAIR (h) showed pachygyria over the cingulate cortex (white arrow). TOF COW (i) showed dilated right supraclinoid ICA and right pericallosal artery without abnormal veins and non-visualization of left ICA (white arrow). DSA image (j-l): Left CCA (j) run showed non-visualization of left ICA (white arrow) and used it as an ascending pharyngeal artery. Right CCA lateral (k) showed abnormally dilated arteries in the right supraclinoid ICA, pericallosal artery with aneurysm without abnormal draining vein (white arrow), and right VA (l) showing multiple collaterals and filling of the left middle cerebral artery (MCA) through the left posterior communicating artery. Case 7 - A 15-year-old male with bilateral segmental dysgenesis of ICA presented with a headache and one episode of loss of consciousness. MRI image (m-o): Axial T2 (m) image showed multiple abnormal dilated vessels in the quadrigeminal cistern (white arrow). TOF COW (n) showed focal non-visualization of the ophthalmic segment of both ICAs (red circle). FLAIR (o) showed no obvious abnormality. DSA image (p-r): Left CCA (p), and right CCA (q) showed focal dysgenesis of the ophthalmic segments of both ICAs (white arrows in p,q) and left VA (r) showing multiple pial collaterals reconstituting MCA and ACA branches (white arrow). Case 8 - A 55-year-old male with cerebrofacial arteriovenous metameric syndrome (CAMS) type 2 presented with headache, vomiting, and loss of consciousness. Non-contrast computed tomography (NCCT) head (s), MRI brain (s-w): Axial T2 (t), T1 (u), showed focal bleed in the right posterior temporal lobe (white arrow). DSA image AP (v) and lateral (w) showed arteriovenous malformation (AVM) in the right posterior temporal lobe with feeder from the right posterior temporal artery and drainage into a vein of Labbe (white arrow). Fundoscopy (x) showed retinal AVM (white arrow). Features are suggestive of CAMS2.
case_images: JCIS-14-3-g003.jpg
case_images: PMC10927042_08_JCIS-14-3-g003.jpg
case_images: F3
case_images: AVMs right posterior temporal lobe, fed by a posterior temporal branch of right ICA [Figure 3s-x]. A combination of these findings suggests cerebrofacial arteriovenous metameric syndrome (CAMS) type 2.
case_images: PMC10927042_09
case_images: Case 9 - A 12-year-old male with Parry-Romberg disease presented with progressive left-side facial muscle atrophy. (a-f): Clinical image (a) showed atrophy of the left side facial musculature (white arrow). Non-contrast computed tomography (NCCT) scan (b) showed atrophy of the left side muscles of the face (white arrow). Magnetic resonance imaging (MRI) image (c-f): Axial T1 (c), T1FS (d), T2 (e), fluid-attenuated inversion recovery (FLAIR) (f) image showed atrophy of the left side facial muscles and without any signal changes in brain parenchyma (white arrows). Case 10 - A 10-year-old female with Sturge-Weber syndrome presented with seizure (g-l): Clinical image (g) showed hemangioma on the left side of the face (white arrow). NCCT head (h) showed gyriform calcifications in the left parieto-occipital lobe (white arrow). MRI image (i-l): Axial FLAIR (i), gradient-echo (GRE) (j), T1 (k), and T1PC (l) images showed gyriform calcifications with pial angiomas (white arrows). Case 11 - A 13-year-old male with encephalocraniocutaneous lipomatosis presented with a seizure. (m-r): Clinical images (m and n) showed non-scarring alopecia and a focal conjunctival lesion in the right eye (white arrows). The non-contrast NCCT head (o) showed gyriform calcifications on the right superior frontal lobe with adjacent lipoma (white arrow). MRI image (p-r): Axial T1 (p), T1FS (q) showed lipoma showing fat suppression (white arrows). T1PC (r) image showed gyriform calcifications with pial angiomas (white arrow). Case 12 - A 10-month-old male with melanotic neuroectodermal tumor of infancy (MNTI) presented with gradual progressive swelling of the right forehead. NCCT head (s and t) showed a large mass lesion with lytic changes in the skull in the right frontal region (white arrow). MRI brain (u-x): Axial T1 (u), T2 (v) showed T1 hyperintensity and T2 hypointensity within the lesion (white arrows), and GRE (w) showed peripheral blooming within the lesion (white arrow). T1PC (x) showed enhancement within the lesion. The biopsy showed a melanocytic tumor with a diagnosis of MNTI.
case_images: JCIS-14-3-g004.jpg
case_images: PMC10927042_11_JCIS-14-3-g004.jpg
case_images: F4
case_images: NCCT head and brain MRI showed a mixed lytic and sclerotic lesion on computed tomography (CT) and T1 hyperintense lesions with post-contrast enhancement in the right frontal and temporal scalp region [Figure 4s-x].
case_images: PMC10927042_10
case_images: Case 9 - A 12-year-old male with Parry-Romberg disease presented with progressive left-side facial muscle atrophy. (a-f): Clinical image (a) showed atrophy of the left side facial musculature (white arrow). Non-contrast computed tomography (NCCT) scan (b) showed atrophy of the left side muscles of the face (white arrow). Magnetic resonance imaging (MRI) image (c-f): Axial T1 (c), T1FS (d), T2 (e), fluid-attenuated inversion recovery (FLAIR) (f) image showed atrophy of the left side facial muscles and without any signal changes in brain parenchyma (white arrows). Case 10 - A 10-year-old female with Sturge-Weber syndrome presented with seizure (g-l): Clinical image (g) showed hemangioma on the left side of the face (white arrow). NCCT head (h) showed gyriform calcifications in the left parieto-occipital lobe (white arrow). MRI image (i-l): Axial FLAIR (i), gradient-echo (GRE) (j), T1 (k), and T1PC (l) images showed gyriform calcifications with pial angiomas (white arrows). Case 11 - A 13-year-old male with encephalocraniocutaneous lipomatosis presented with a seizure. (m-r): Clinical images (m and n) showed non-scarring alopecia and a focal conjunctival lesion in the right eye (white arrows). The non-contrast NCCT head (o) showed gyriform calcifications on the right superior frontal lobe with adjacent lipoma (white arrow). MRI image (p-r): Axial T1 (p), T1FS (q) showed lipoma showing fat suppression (white arrows). T1PC (r) image showed gyriform calcifications with pial angiomas (white arrow). Case 12 - A 10-month-old male with melanotic neuroectodermal tumor of infancy (MNTI) presented with gradual progressive swelling of the right forehead. NCCT head (s and t) showed a large mass lesion with lytic changes in the skull in the right frontal region (white arrow). MRI brain (u-x): Axial T1 (u), T2 (v) showed T1 hyperintensity and T2 hypointensity within the lesion (white arrows), and GRE (w) showed peripheral blooming within the lesion (white arrow). T1PC (x) showed enhancement within the lesion. The biopsy showed a melanocytic tumor with a diagnosis of MNTI.
case_images: JCIS-14-3-g004.jpg
case_images: PMC10927042_11_JCIS-14-3-g004.jpg
case_images: F4
case_images: NCCT head and brain MRI showed a mixed lytic and sclerotic lesion on computed tomography (CT) and T1 hyperintense lesions with post-contrast enhancement in the right frontal and temporal scalp region [Figure 4s-x].
case_images: PMC10927042_11
case_images: Case 9 - A 12-year-old male with Parry-Romberg disease presented with progressive left-side facial muscle atrophy. (a-f): Clinical image (a) showed atrophy of the left side facial musculature (white arrow). Non-contrast computed tomography (NCCT) scan (b) showed atrophy of the left side muscles of the face (white arrow). Magnetic resonance imaging (MRI) image (c-f): Axial T1 (c), T1FS (d), T2 (e), fluid-attenuated inversion recovery (FLAIR) (f) image showed atrophy of the left side facial muscles and without any signal changes in brain parenchyma (white arrows). Case 10 - A 10-year-old female with Sturge-Weber syndrome presented with seizure (g-l): Clinical image (g) showed hemangioma on the left side of the face (white arrow). NCCT head (h) showed gyriform calcifications in the left parieto-occipital lobe (white arrow). MRI image (i-l): Axial FLAIR (i), gradient-echo (GRE) (j), T1 (k), and T1PC (l) images showed gyriform calcifications with pial angiomas (white arrows). Case 11 - A 13-year-old male with encephalocraniocutaneous lipomatosis presented with a seizure. (m-r): Clinical images (m and n) showed non-scarring alopecia and a focal conjunctival lesion in the right eye (white arrows). The non-contrast NCCT head (o) showed gyriform calcifications on the right superior frontal lobe with adjacent lipoma (white arrow). MRI image (p-r): Axial T1 (p), T1FS (q) showed lipoma showing fat suppression (white arrows). T1PC (r) image showed gyriform calcifications with pial angiomas (white arrow). Case 12 - A 10-month-old male with melanotic neuroectodermal tumor of infancy (MNTI) presented with gradual progressive swelling of the right forehead. NCCT head (s and t) showed a large mass lesion with lytic changes in the skull in the right frontal region (white arrow). MRI brain (u-x): Axial T1 (u), T2 (v) showed T1 hyperintensity and T2 hypointensity within the lesion (white arrows), and GRE (w) showed peripheral blooming within the lesion (white arrow). T1PC (x) showed enhancement within the lesion. The biopsy showed a melanocytic tumor with a diagnosis of MNTI.
case_images: JCIS-14-3-g004.jpg
case_images: PMC10927042_11_JCIS-14-3-g004.jpg
case_images: F4
case_images: NCCT head and brain MRI showed a mixed lytic and sclerotic lesion on computed tomography (CT) and T1 hyperintense lesions with post-contrast enhancement in the right frontal and temporal scalp region [Figure 4s-x].
case_images: PMC10927042_12
case_images: Case 13 - A 42-year-old male with persistent craniopharyngeal canal (CPC) presented with a headache. Non-contrast computed tomography (NCCT) scan of the head (a and b) showed right phthisis bulbi, left globe calcification with globe deformation, and persistent CPC (white arrows). The magnetic resonance imaging (MRI) brain (c-e) showed transsellar encephalocele with lipoma in the nasopharynx and dolichoectatic changes in the vertebrobasilar system on the time of flight circle of Willis (e) (white arrows). Case 14 - A 12-year-old female with craniosynostosis presented with an abnormal skull shape. (f-j): Clinical images (a and b) showed abnormal skull shape with prominent eyeballs (white arrow). The NCCT head (h-j) showed an abnormal skull shape with shallow orbits (white arrow). Case 15 - A 10-year-old male with Hypomelanosis of Ito presented with focal seizure. (k-o): Clinical image (k) showed hypopigmented macules in the trunk along the line of Blaschko (white arrow). MRI image (l-o): Axial T2 (l), fluid-attenuated inversion recovery (FLAIR) (m), Coronal T1 (n), susceptibility-weighted imaging (SWI) (o) showed focal abnormal thickened cortex with white matter signal changes and paucity of vessels in the right frontotemporal lobe and right hemimegalencephaly (white arrow). Case 16 - A 41-year-old male with melanocytoma presented with difficulty in walking. MRI brain (p-t): AxialT2 (p), T1 (q), FLAIR (r), SWI (s), T1PC (t) showed well-defined focal T1 hyperintense lesion with peripheral blooming on SWI in the central aspect of the pons (white arrows). Blooming is less evident as compared to T1 hyperintensity. Case 17 - A 6-month male child with alobar holoprosencephaly presented with developmental delay. MRI image (u-w): Coronal T1 (u), Axial T1 (v), and T2 (w) images showed monoventricle with fused thalami and single hemisphere (white arrow).
case_images: JCIS-14-3-g005.jpg
case_images: PMC10927042_16_JCIS-14-3-g005.jpg
case_images: F5
case_images: MRI image showed non-separation of both cerebral hemispheres with monoventricle and partially fused thalami suggestive of alobar holoprosencephaly [Figure 5u-w].
case_images: PMC10927042_13
case_images: Case 13 - A 42-year-old male with persistent craniopharyngeal canal (CPC) presented with a headache. Non-contrast computed tomography (NCCT) scan of the head (a and b) showed right phthisis bulbi, left globe calcification with globe deformation, and persistent CPC (white arrows). The magnetic resonance imaging (MRI) brain (c-e) showed transsellar encephalocele with lipoma in the nasopharynx and dolichoectatic changes in the vertebrobasilar system on the time of flight circle of Willis (e) (white arrows). Case 14 - A 12-year-old female with craniosynostosis presented with an abnormal skull shape. (f-j): Clinical images (a and b) showed abnormal skull shape with prominent eyeballs (white arrow). The NCCT head (h-j) showed an abnormal skull shape with shallow orbits (white arrow). Case 15 - A 10-year-old male with Hypomelanosis of Ito presented with focal seizure. (k-o): Clinical image (k) showed hypopigmented macules in the trunk along the line of Blaschko (white arrow). MRI image (l-o): Axial T2 (l), fluid-attenuated inversion recovery (FLAIR) (m), Coronal T1 (n), susceptibility-weighted imaging (SWI) (o) showed focal abnormal thickened cortex with white matter signal changes and paucity of vessels in the right frontotemporal lobe and right hemimegalencephaly (white arrow). Case 16 - A 41-year-old male with melanocytoma presented with difficulty in walking. MRI brain (p-t): AxialT2 (p), T1 (q), FLAIR (r), SWI (s), T1PC (t) showed well-defined focal T1 hyperintense lesion with peripheral blooming on SWI in the central aspect of the pons (white arrows). Blooming is less evident as compared to T1 hyperintensity. Case 17 - A 6-month male child with alobar holoprosencephaly presented with developmental delay. MRI image (u-w): Coronal T1 (u), Axial T1 (v), and T2 (w) images showed monoventricle with fused thalami and single hemisphere (white arrow).
case_images: JCIS-14-3-g005.jpg
case_images: PMC10927042_16_JCIS-14-3-g005.jpg
case_images: F5
case_images: MRI image showed non-separation of both cerebral hemispheres with monoventricle and partially fused thalami suggestive of alobar holoprosencephaly [Figure 5u-w].
case_images: PMC10927042_14
case_images: Case 13 - A 42-year-old male with persistent craniopharyngeal canal (CPC) presented with a headache. Non-contrast computed tomography (NCCT) scan of the head (a and b) showed right phthisis bulbi, left globe calcification with globe deformation, and persistent CPC (white arrows). The magnetic resonance imaging (MRI) brain (c-e) showed transsellar encephalocele with lipoma in the nasopharynx and dolichoectatic changes in the vertebrobasilar system on the time of flight circle of Willis (e) (white arrows). Case 14 - A 12-year-old female with craniosynostosis presented with an abnormal skull shape. (f-j): Clinical images (a and b) showed abnormal skull shape with prominent eyeballs (white arrow). The NCCT head (h-j) showed an abnormal skull shape with shallow orbits (white arrow). Case 15 - A 10-year-old male with Hypomelanosis of Ito presented with focal seizure. (k-o): Clinical image (k) showed hypopigmented macules in the trunk along the line of Blaschko (white arrow). MRI image (l-o): Axial T2 (l), fluid-attenuated inversion recovery (FLAIR) (m), Coronal T1 (n), susceptibility-weighted imaging (SWI) (o) showed focal abnormal thickened cortex with white matter signal changes and paucity of vessels in the right frontotemporal lobe and right hemimegalencephaly (white arrow). Case 16 - A 41-year-old male with melanocytoma presented with difficulty in walking. MRI brain (p-t): AxialT2 (p), T1 (q), FLAIR (r), SWI (s), T1PC (t) showed well-defined focal T1 hyperintense lesion with peripheral blooming on SWI in the central aspect of the pons (white arrows). Blooming is less evident as compared to T1 hyperintensity. Case 17 - A 6-month male child with alobar holoprosencephaly presented with developmental delay. MRI image (u-w): Coronal T1 (u), Axial T1 (v), and T2 (w) images showed monoventricle with fused thalami and single hemisphere (white arrow).
case_images: JCIS-14-3-g005.jpg
case_images: PMC10927042_16_JCIS-14-3-g005.jpg
case_images: F5
case_images: MRI image showed non-separation of both cerebral hemispheres with monoventricle and partially fused thalami suggestive of alobar holoprosencephaly [Figure 5u-w].
case_images: PMC10927042_15
case_images: Case 13 - A 42-year-old male with persistent craniopharyngeal canal (CPC) presented with a headache. Non-contrast computed tomography (NCCT) scan of the head (a and b) showed right phthisis bulbi, left globe calcification with globe deformation, and persistent CPC (white arrows). The magnetic resonance imaging (MRI) brain (c-e) showed transsellar encephalocele with lipoma in the nasopharynx and dolichoectatic changes in the vertebrobasilar system on the time of flight circle of Willis (e) (white arrows). Case 14 - A 12-year-old female with craniosynostosis presented with an abnormal skull shape. (f-j): Clinical images (a and b) showed abnormal skull shape with prominent eyeballs (white arrow). The NCCT head (h-j) showed an abnormal skull shape with shallow orbits (white arrow). Case 15 - A 10-year-old male with Hypomelanosis of Ito presented with focal seizure. (k-o): Clinical image (k) showed hypopigmented macules in the trunk along the line of Blaschko (white arrow). MRI image (l-o): Axial T2 (l), fluid-attenuated inversion recovery (FLAIR) (m), Coronal T1 (n), susceptibility-weighted imaging (SWI) (o) showed focal abnormal thickened cortex with white matter signal changes and paucity of vessels in the right frontotemporal lobe and right hemimegalencephaly (white arrow). Case 16 - A 41-year-old male with melanocytoma presented with difficulty in walking. MRI brain (p-t): AxialT2 (p), T1 (q), FLAIR (r), SWI (s), T1PC (t) showed well-defined focal T1 hyperintense lesion with peripheral blooming on SWI in the central aspect of the pons (white arrows). Blooming is less evident as compared to T1 hyperintensity. Case 17 - A 6-month male child with alobar holoprosencephaly presented with developmental delay. MRI image (u-w): Coronal T1 (u), Axial T1 (v), and T2 (w) images showed monoventricle with fused thalami and single hemisphere (white arrow).
case_images: JCIS-14-3-g005.jpg
case_images: PMC10927042_16_JCIS-14-3-g005.jpg
case_images: F5
case_images: MRI image showed non-separation of both cerebral hemispheres with monoventricle and partially fused thalami suggestive of alobar holoprosencephaly [Figure 5u-w].
case_images: PMC10927042_16
case_images: Case 13 - A 42-year-old male with persistent craniopharyngeal canal (CPC) presented with a headache. Non-contrast computed tomography (NCCT) scan of the head (a and b) showed right phthisis bulbi, left globe calcification with globe deformation, and persistent CPC (white arrows). The magnetic resonance imaging (MRI) brain (c-e) showed transsellar encephalocele with lipoma in the nasopharynx and dolichoectatic changes in the vertebrobasilar system on the time of flight circle of Willis (e) (white arrows). Case 14 - A 12-year-old female with craniosynostosis presented with an abnormal skull shape. (f-j): Clinical images (a and b) showed abnormal skull shape with prominent eyeballs (white arrow). The NCCT head (h-j) showed an abnormal skull shape with shallow orbits (white arrow). Case 15 - A 10-year-old male with Hypomelanosis of Ito presented with focal seizure. (k-o): Clinical image (k) showed hypopigmented macules in the trunk along the line of Blaschko (white arrow). MRI image (l-o): Axial T2 (l), fluid-attenuated inversion recovery (FLAIR) (m), Coronal T1 (n), susceptibility-weighted imaging (SWI) (o) showed focal abnormal thickened cortex with white matter signal changes and paucity of vessels in the right frontotemporal lobe and right hemimegalencephaly (white arrow). Case 16 - A 41-year-old male with melanocytoma presented with difficulty in walking. MRI brain (p-t): AxialT2 (p), T1 (q), FLAIR (r), SWI (s), T1PC (t) showed well-defined focal T1 hyperintense lesion with peripheral blooming on SWI in the central aspect of the pons (white arrows). Blooming is less evident as compared to T1 hyperintensity. Case 17 - A 6-month male child with alobar holoprosencephaly presented with developmental delay. MRI image (u-w): Coronal T1 (u), Axial T1 (v), and T2 (w) images showed monoventricle with fused thalami and single hemisphere (white arrow).
case_images: JCIS-14-3-g005.jpg
case_images: PMC10927042_16_JCIS-14-3-g005.jpg
case_images: F5
case_images: MRI image showed non-separation of both cerebral hemispheres with monoventricle and partially fused thalami suggestive of alobar holoprosencephaly [Figure 5u-w].