Table 2.
Neurological signs and symptoms in CMN patients
| References | Patient number† | Symptoms signs n (%) | Epilepsy/seizures n (%) | Neurodevelopmental delay n (%) |
Symptoms of increased intracranial pressure/Hydrocephalus‡ n (%) | Other n |
|---|---|---|---|---|---|---|
| Group 1: General CMN group | ||||||
| Ruiz-Maldonado et al. [17] | 13 | 11/13 (85%) | 1/13 (8%) |
5/13 (38%) Impaired mental status (n = 4) Language retardation and brain immaturity (n = 1) |
Unreported |
Cephalalgia (headache) (n = 4) Pyramidal syndrome (n = 5) Dysesthesia in nevus (n = 4) Soft signs (n = 3) Cranial nerves dysfunction (n = 2) Hypoacusis (n = 1) Motor deficit (n = 1) Somniloquy (sleep-talking) (n = 1) |
| Foster et al. [9] | 46 |
1/46 (2%) 4/49 (8%)§ |
Possible seizures, number unknown |
1/46 (2%) Developmental delay (most notably in speech development) |
Unreported | Generalized hypotonia (n = 1) |
| Bett et al. [48] |
1008 (One patient with a Cafe au lait macula) |
43/1008 (4%) | 25/1008 (2%) |
10/1008 (1%) Developmental delay (n = 7) Speech delay (n = 4) |
28/1008 (3%) Hydrocephalus |
Depression (n = 2) ADHD (n = 1) Autism (n = 1) Behaviour disorder (n = 1) Incontinence (n = 1) PTSD (n = 1) Strabismus (n = 1) Substance abuse (n = 1) |
| Chan et al. [25] | 39 | 0/39 (0%) | 0/39 (0%) | 0/39 (0%) | 0/39 (0%) | 0 |
| Lovett et al. [20] | 61 | 5/61 (8%) | 3/61 (5%) |
1/61 (2%) Learning difficulties |
1/61 (2%) Increased intracranial pressure | Behavioural problems (n = 1) |
| Bekiesińska-Figatowska et al. [47] | 24 | 1/24 (4%) | 1/24 (4%) | Unreported | Unreported | Unreported |
| Waelchli et al. [7] | 271 | 41/271 (15%) | 17/263 (6%) | 41/271 (15%) | 6/18 (33%)¶ | Unreported |
| Viana et al. [56] | 57 | 4/57 (7%) | Seizures (number unknown) |
Number unreported Delay in neuropsychomotor development |
Unreported | Unreported |
| Wramp et al. [24] | 83 | 9/83 (11%) | 1/83 (1%) | 3/83 (4%) | 2/83 (2%) Increased intracranial pressure |
Locomotor impairment (n = 2) Deafness in left ear (n = 1) Difficulties concentrating (n = 1) Central sleep apnoea (n = 1) Hearing impairment in both ears (n = 1) Visual impairment (n = 1) |
| Jakchairoongruang et al. [18] | 80 | 17/80 (21%) | Seizures (number unknown) | Unreported |
≥ 5 Exact number unreported |
Unreported |
| Group 2: Only reporting on neurological signs and symptoms in patients with MRI abnormalities | ||||||
| Bittencourt et al. [23] | 13 | 9/13 (69%) | 5/13 (38%) | Unreported | 4/13 (31%) Hydrocephalus |
Decreased arm function (n = 1) Paraparesis (n = 1) |
| Ramaswamy et al. [19] | 14 | 14/14 (100%) | 7/14 (50%) |
6/14 (43%) Delayed development (n = 5) Mild motor and cognitive delay (n = 1) |
3/14 (14%) Hydrocephalus 1/14 (7%) Headache due to increased intracranial pressure |
West syndrome (n = 1) |
| Price et al. [55] | 12 | 5/12 (42%) | Unreported | Unreported | Unreported | Unreported |
| Qian et al. [21] | 13 | 13/13 (100%) | 8/13 (62%) | 11/13 (85%) Cognitive impairment |
9/13 (69%) Hydrocephalus on MRI 13/13 (100%) Acute or subacute headache and intracranial pressure 4/13 Ventriculoperitoneal shunt |
Abduction nerve paralysis, hearing loss, vision loss (n = 1) |
We identified two study groups. Ten studies reported on neurological signs and symptoms and MRI imaging in a general CMN population ‘general CMN group’ (2107 patients) and four studies reported on neurological signs and symptoms only in patients with MRI abnormalities ‘only reporting on neurological signs and symptoms in patients with MRI abnormalities’(232 patients)
ADHD, Attention Deficit/Hyperactivity Disorder; CMN, congenital melanocytic naevi; CNS, central nervous system; PTSD, Post-traumatic stress disorder
†This number represents the group of CMN patients where the proportion of symptoms and signs can be calculated. Patients that were excluded by the individual studies were included in our studies if information about neurological involvement was available about these excluded patients
‡Hydrocephalus is a radiological diagnosis and not a symptom, but sometimes it was classified as a symptom, however, it was not clear if the diagnosis hydrocephalus was accompanied with symptoms or signs
§Three patients were excluded because they already had symptoms before the study. A total of 4 patients of 49 had symptoms/signs
¶Six (33%) of 18 subjects with 'additional pathology' beside intraparenchymal melanocytosis had hydrocephalus on MRI, and 5/6 were asymptomatic