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. 2015 Aug 27;173(3):739–750. doi: 10.1111/bjd.13898

Table 2.

Clinical and radiological features of the 18 patients with abnormal magnetic resonance imaging (MRI) scans (classified as group 2, ‘other pathology’)

Patient Sex CMN projected adult size (cm) Total naevi at enrolment (n) MRI findings at first scan, with subsequent progress Neurological symptoms by time of first MRI Seizures ever Neurodevelopmental problems (ever) Neurodevelopmental details Neurosurgery Death from cutaneous melanoma Death from CNS melanoma
1 M > 60 20–50 Generalized lack of white matter bulk, slightly prominent ventricles, low‐volume inferior vermis
Appearances stable on repeat MRI (×1), neurologically normal at age 8 years
No No No No
2 M > 60 100–200 Multiple foci of intraparenchymal melanosis amygdala, temporal lobe and cerebellum
Right cerebellar hemisphere small
Appearances stable on repeat MRI (×1)
ADHD diagnosed at age 4 years
No No Yes ADHD, mild developmental delay, speech therapy, extra help in class, mainstream school No
3 M 20–40 20–50 Leptomeningeal enhancement over anterior surface of conus and along the nerve roots of the cauda equina
Appearances stable on repeat MRI (×2), neurologically normal at age 4 years
No No No Yes
4 F 10–20 < 10 Filum terminale lipoma
Lateral ventricles large right > left but not hydrocephalus; some lack of white matter bulk and cortical thinning
Appearances stable on repeat MRI (× 1), neurologically normal at age 10 years
No No No No
5 F 40–60 > 200 Multiple foci of intraparenchymal melanosis amygdala, cerebellum; two benign intradural tumours (one melanocytic, one neurocristic hamartoma), DWM hydrocephalus, later syrinx within spine
Multiple MRI scans, DWM resolved, diffuse leptomeningeal disease (melanocytic on histology but no characteristic melanin signal on MRI) spread over first year to involve all leptomeninges, cord compression gradually worsening
In wheelchair with moderate global developmental delay at age 10 years
No Yes Yes Moderate global developmental delay, wheelchair bound Yes
6 M 10–20 2 Right lateral ventricle choroid plexus papilloma, hydrocephalus No Yes No Yes
7 F Multiple 10–20 Multiple foci of intraparenchymal melanosis plus multiple focal nonmelanin signal spinal thoracic dural deposits
Not biopsied, stable on repeat MRI (×2), neurologically normal at age 5 years
No No No No
8 F > 60 50–100 Extramedullary dural stranding No No No No
9 M < 10 Multiple but exact number unknown Right cerebellar astrocytoma No No No Yes
10 M 20–40 > 200 Intraparenchymal melanosis of both thalami and mesial temporal lobes (left > right), venous angioma left cerebellar hemisphere No Yes Yes Moderate cognitive delay, special school Yes
11 M 40–60 100–200 Intraparenchymal melanosis of left amygdala Equivocal enhancement of nerve roots of cauda equina No No No No
12 Male 40–60 Multiple but exact number unknown Midline posterior fossa arachnoid cyst, communicating hydrocephalus No Unknown Unknown Yes
13 M 10–20 < 10 Left frontal lobe meningioma No No No Yes
14 M 10–20 < 10 Subtle enhancement of nerve roots of cauda equina No No No No
15 M > 60 20–50 Multiple foci of intraparenchymal melanosis and diffuse leptomeningeal melanoma No No Yes Yes Yes
16 M Multiple but exact number unknown Posterior fossa malignant melanoma Yes Unknown Yes Yes Yes
17 F No single larger lesion
Largest lesion projected adult size < 5 cm
> 200 Diffuse leptomeningeal melanosis and DWM with hydrocephalus at 2 weeks
At 6 months diffuse leptomeningeal melanoma with focus of intraparenchymal melanoma
No Yes Yes Moderate global delay Yes Yes
18 F > 60 20–50 Intraparenchymal melanosis and subsequent diffuse leptomeningeal melanoma with hydrocephalus Yes No Yes Mild developmental delay prehydrocephalus Yes Yes

CMN, congential melanocytic naevi; CNS, central nervous system; M, male; ADHD, attention deficit hyperactivity disorder; F, female; DWM, Dandy–Walker malformation.