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) |