Patients with abnormal neurology and/or abnormal imaging
| Patient | CMN site and size | Neurology |
Age of onset of abnormal neurology | MRI result | Notes |
| 1 | Whole spine, >10 cm, satellites++ | Left hemiparesis, progressive scoliosis | 4 months | ICM | Progressive disabling kyphoscoliosis requiring corrective surgery. Left hemiparesis progressing to spastic paresis of all 4 limbs, but left more affected than right. ?Due to cervical meningeal involvement by melanosis |
| 2 | Whole spine, >10 cm, few satellites | Normal | N/A | Increased signal peritrigonal white matter ?immature myelination | |
| 3 | Right scalp, >10 cm, few satellites | Generalised seizures, head banging | 4 months | Right lateral ventricle choroid plexus papilloma, hydrocephalus | Benign choroid plexus papilloma removed age 2 years. Hydrocephalus presented 4 months postsurgery, and required a ventriculoperitoneal shunt insertion. Generalised seizures and head banging both present before surgery |
| 4 | Occipital scalp, 5–10 cm, few satellites | Head banging, delayed motor/verbal development | 17 months | Right cerebellar astrocytoma | Delay of approximately 6 months in gross motor and expressive language at 19 months, but development then normalised |
| 5 | Spine, >10 cm, scalp, satellites++ | Left focal seizures + generalisation, global delay | 18 months | ICM—left temporal lobe, thalamus, left cerebellum, ventral pons | Regression of language skills aged 3–4 years, accompanied by moderate delay in all areas |
| 6 | Left scalp, >10 cm, satellites++ | Right focal seizures, right hemiparesis + right homonymous hemianopia | 6 months | ICM— right thalamus and left pons | |
| 7 | Left knee, 5–10 cm, spine, scalp, satellites+ | Upper limb spasticity | 1 month | Midline posterior fossa arachnoid cyst, hydrocephalus | Communicating hydrocephalus presented with sunsetting eyes and enlarging head, age 1 month. No cause found—not related to posterior fossa arachnoid cyst. Ventriculoperitoneal shunt inserted age 1 month |
| 8 | Left face, >10 cm, few satellites | Left squint, delayed speech | Squint from birth, speech delay from 18 months | Normal | Left convergent squint with normal ophthalmological examination. Speech delay of approximately 6 months, age 2 years |
| 9 | Mid–lower spine, >10 cm, scalp, satellites++ | Spastic quadriplegia, global delay | 6 months | Normal | Delay of approximately 6 months in all areas at age 16 months |
| 10 | Whole spine, >10 cm, satellites++ | Generalised seizures, later resolved | <1 year | Normal |