Table 2.
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.