PMC5341272_01
Clinical photograph of a female manifesting Menkes disease before (a) and after treatment (b) with copper histidine therapy. (a) Show frontal bossing, sparse wooly hypopigmented scalp hair. (b) Show increased hair growth and pigmentation of scalp hair
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F1
She had sparse, wooly, hypopigmented scalp hair [Figure 1a] and hyperlaxity of joints.
(a-d) Magnetic resonance imaging of the brain findings in our series of patients with Menkes disease. Case 1 (a-d): Magnetic resonance imaging of the brain at 14 months - T2 axial image (a) shows cerebellar volume loss (white arrow) and tortuous middle cerebral arteries (black arrow). Posterior vasculature also appears tortuous (black arrows in d). T2 axial and T2 FLAIR images (b and c) shows abnormal myelination (black arrows) and cerebral volume loss as evidenced by ventricular and anterior subarachnoid space prominence (white arrows in b). Case 2 (a-d): Magnetic resonance imaging of the brain at 2 months - T2 axial images show tortuosity of posterior (black arrow in a) and anterior vasculature (black arrow in b), cerebellar volume loss (black arrow in c), and delayed myelination of posterior limb of internal capsule (black arrow in d) corresponding to appearance at birth. Case 3 (a-d): Magnetic resonance imaging of the brain at 8 months - T2 axial images showing marked tortuosity of the anterior vessels (black arrows in a and b). Delayed myelination corresponding to <6 months was observed (black arrow in c and d) in view of absent myelination of anterior limb of internal capsule. Case 4 (a-d): Magnetic resonance imaging of the brain at 9 months - T2 axial images (a) and susceptibility weighted imaging (b) show markedly tortuous anterior and posterior vessels (black arrows). Mild superior cerebellar volume loss is also seen (white arrow in a). T2 axial (c) and T2 FLAIR (d) images show features of hypomyelination with absent myelination of anterior limb of internal capsule and increased signal of deep white matter (black arrows)
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F2
MRI of the brain findings and skeletal changes are shown in Figure 2a-d and 3d.
PMC5341272_02
(a-d) Magnetic resonance imaging of the brain findings in our series of patients with Menkes disease. Case 1 (a-d): Magnetic resonance imaging of the brain at 14 months - T2 axial image (a) shows cerebellar volume loss (white arrow) and tortuous middle cerebral arteries (black arrow). Posterior vasculature also appears tortuous (black arrows in d). T2 axial and T2 FLAIR images (b and c) shows abnormal myelination (black arrows) and cerebral volume loss as evidenced by ventricular and anterior subarachnoid space prominence (white arrows in b). Case 2 (a-d): Magnetic resonance imaging of the brain at 2 months - T2 axial images show tortuosity of posterior (black arrow in a) and anterior vasculature (black arrow in b), cerebellar volume loss (black arrow in c), and delayed myelination of posterior limb of internal capsule (black arrow in d) corresponding to appearance at birth. Case 3 (a-d): Magnetic resonance imaging of the brain at 8 months - T2 axial images showing marked tortuosity of the anterior vessels (black arrows in a and b). Delayed myelination corresponding to <6 months was observed (black arrow in c and d) in view of absent myelination of anterior limb of internal capsule. Case 4 (a-d): Magnetic resonance imaging of the brain at 9 months - T2 axial images (a) and susceptibility weighted imaging (b) show markedly tortuous anterior and posterior vessels (black arrows). Mild superior cerebellar volume loss is also seen (white arrow in a). T2 axial (c) and T2 FLAIR (d) images show features of hypomyelination with absent myelination of anterior limb of internal capsule and increased signal of deep white matter (black arrows)
AIAN-20-62-g003.jpg
PMC5341272_04_AIAN-20-62-g003.jpg
F2
MRI of the brain findings and skeletal changes are shown in Figure 2a-d and 3d.
(a-d) Skeletal findings in our series of patients with Menkes disease. Chest radiograph (a) of Case 2 shows prominence of anterior ends of ribs (black arrows). Hand radiograph (b) of Case 2 shows mild metaphyseal flaring of both radius and ulna (white arrow). Lateral cervical spine radiograph of Case 3 (c) shows atlantoaxial dislocation (white arrow) with anterior atlantodental interval measuring 5.8 mm. Hand radiograph of Case 4 (d) shows diffuse osteopenia (white arrow)
AIAN-20-62-g005.jpg
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F3
MRI of the brain findings and skeletal changes are shown in Figure 2a-d and 3d.
PMC5341272_03
(a-d) Magnetic resonance imaging of the brain findings in our series of patients with Menkes disease. Case 1 (a-d): Magnetic resonance imaging of the brain at 14 months - T2 axial image (a) shows cerebellar volume loss (white arrow) and tortuous middle cerebral arteries (black arrow). Posterior vasculature also appears tortuous (black arrows in d). T2 axial and T2 FLAIR images (b and c) shows abnormal myelination (black arrows) and cerebral volume loss as evidenced by ventricular and anterior subarachnoid space prominence (white arrows in b). Case 2 (a-d): Magnetic resonance imaging of the brain at 2 months - T2 axial images show tortuosity of posterior (black arrow in a) and anterior vasculature (black arrow in b), cerebellar volume loss (black arrow in c), and delayed myelination of posterior limb of internal capsule (black arrow in d) corresponding to appearance at birth. Case 3 (a-d): Magnetic resonance imaging of the brain at 8 months - T2 axial images showing marked tortuosity of the anterior vessels (black arrows in a and b). Delayed myelination corresponding to <6 months was observed (black arrow in c and d) in view of absent myelination of anterior limb of internal capsule. Case 4 (a-d): Magnetic resonance imaging of the brain at 9 months - T2 axial images (a) and susceptibility weighted imaging (b) show markedly tortuous anterior and posterior vessels (black arrows). Mild superior cerebellar volume loss is also seen (white arrow in a). T2 axial (c) and T2 FLAIR (d) images show features of hypomyelination with absent myelination of anterior limb of internal capsule and increased signal of deep white matter (black arrows)
AIAN-20-62-g003.jpg
PMC5341272_04_AIAN-20-62-g003.jpg
F2
MRI of the brain findings and skeletal changes are shown in Figure 2a-d and 3d.
(a-d) Skeletal findings in our series of patients with Menkes disease. Chest radiograph (a) of Case 2 shows prominence of anterior ends of ribs (black arrows). Hand radiograph (b) of Case 2 shows mild metaphyseal flaring of both radius and ulna (white arrow). Lateral cervical spine radiograph of Case 3 (c) shows atlantoaxial dislocation (white arrow) with anterior atlantodental interval measuring 5.8 mm. Hand radiograph of Case 4 (d) shows diffuse osteopenia (white arrow)
AIAN-20-62-g005.jpg
PMC5341272_04_AIAN-20-62-g005.jpg
F3
MRI of the brain findings and skeletal changes are shown in Figure 2a-d and 3d.
PMC5341272_04
(a-d) Magnetic resonance imaging of the brain findings in our series of patients with Menkes disease. Case 1 (a-d): Magnetic resonance imaging of the brain at 14 months - T2 axial image (a) shows cerebellar volume loss (white arrow) and tortuous middle cerebral arteries (black arrow). Posterior vasculature also appears tortuous (black arrows in d). T2 axial and T2 FLAIR images (b and c) shows abnormal myelination (black arrows) and cerebral volume loss as evidenced by ventricular and anterior subarachnoid space prominence (white arrows in b). Case 2 (a-d): Magnetic resonance imaging of the brain at 2 months - T2 axial images show tortuosity of posterior (black arrow in a) and anterior vasculature (black arrow in b), cerebellar volume loss (black arrow in c), and delayed myelination of posterior limb of internal capsule (black arrow in d) corresponding to appearance at birth. Case 3 (a-d): Magnetic resonance imaging of the brain at 8 months - T2 axial images showing marked tortuosity of the anterior vessels (black arrows in a and b). Delayed myelination corresponding to <6 months was observed (black arrow in c and d) in view of absent myelination of anterior limb of internal capsule. Case 4 (a-d): Magnetic resonance imaging of the brain at 9 months - T2 axial images (a) and susceptibility weighted imaging (b) show markedly tortuous anterior and posterior vessels (black arrows). Mild superior cerebellar volume loss is also seen (white arrow in a). T2 axial (c) and T2 FLAIR (d) images show features of hypomyelination with absent myelination of anterior limb of internal capsule and increased signal of deep white matter (black arrows)
AIAN-20-62-g003.jpg
PMC5341272_04_AIAN-20-62-g003.jpg
F2
MRI of the brain findings and skeletal changes are shown in Figure 2a-d and 3d.
(a-d) Skeletal findings in our series of patients with Menkes disease. Chest radiograph (a) of Case 2 shows prominence of anterior ends of ribs (black arrows). Hand radiograph (b) of Case 2 shows mild metaphyseal flaring of both radius and ulna (white arrow). Lateral cervical spine radiograph of Case 3 (c) shows atlantoaxial dislocation (white arrow) with anterior atlantodental interval measuring 5.8 mm. Hand radiograph of Case 4 (d) shows diffuse osteopenia (white arrow)
AIAN-20-62-g005.jpg
PMC5341272_04_AIAN-20-62-g005.jpg
F3
MRI of the brain findings and skeletal changes are shown in Figure 2a-d and 3d.