Background
Methods
Patients
Neuroimaging acquisition and review
Statistical analysis
Results
Demographics
Additional clinical features
System | Manifestation | Patients (n = 14) |
---|---|---|
Any | Any | 12 |
Neurological | Any | 9 |
Seizure | 6 | |
Headache | 4 | |
Cranial nerve dysfunction | 2 | |
TIA | 1 | |
Myoclonus | 1 | |
Hyperaesthesia | 1 | |
Gait disturbance | 1 | |
Visual loss | 1 | |
Psychiatric | Any | 4 |
Anxiety | 2 | |
Depression | 1 | |
OCD | 1 | |
Visual hallucinations | 1 | |
Cardiovascular | Any | 2 |
Hypertension | 1 | |
Bicuspid aortic valve | 1 | |
Articular | TMJ dysfunction | 1 |
Muscular | Myositis | 1 |
Gastro-intestinal | Gastro-oesophageal reflux | 1 |
Vascular | Raynaud’s phenomenon | 0 |
Respiratory | Any | 0 |
Laboratory and other investigations
Imaging abnormalities and neurological manifestations
Demographics | Additional clinical features | MRI findings | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
ID | Skin | Sex | Age at diagnosis/ first scan (years) | Neurological | Psychiatric | Other | White matter signal | White matter volume | Calcification | Enhancement | Other findings | Follow up imaging |
1 | ECDS | M | 6/6 | Headaches | Visual hallucinations | Gastro-oesophageal reflux | Normal | Preserved | Absent | Absent | Unchanged at 1 year | |
2 | ECDS | F | 2/2 | Seizures; Cranial nerve dysfunction | Obsessive compulsive disorder | Abnormal; Mixed response | Preserved with sulcal crowding | Present; Progressive | Present; Leptomeningeal; Increases | 3 years | ||
3 | ECDS | F | 12/9 | Seizures; Headaches; Transient ischaemic attack; Hyperaesthesia | Depression; Anxiety | Abnormal; Regressive | Preserved | Present; Progressive | Present; Leptomeningeal; Increases | 6 years | ||
4 | ECDS | M | 3/3 | Headaches | Normal | Preserved | Absent | Absent | Unchanged at 5 years | |||
5 | ECDS | M | 0.4/0.9 | Normal | Preserved | Absent | Absent | No follow up imaging | ||||
6 | ECDS | F | 8/9 | Seizures | Myositis | Normal | Preserved | Absent | Absent | Unchanged at 1 year | ||
7 | ECDS/PRS | F | 7/3 | Seizures; Cranial nerve dysfunction; Gait disturbance; Myoclonus | Abnormal; Regressive | Preserved | Absent | Absent | Left orbital myositis | 6 years | ||
8 | ECDS/PRS | M | 2/2 | Seizures | Abnormal; Regressive | Preserved | Present; In cavernomata; Stable | Present; In cavernomata; Stable | 2 years | |||
9 | ECDS/PRS | M | 6/6 | Headaches | Abnormal; Progressive | Preserved with sulcal crowding | Present; Progressive | Present; Leptomeningeal; Stable | 11 years | |||
10 | ECDS/PRS | F | 1/0.3 | Seizures | Hypertension | Abnormal; Progressive | Progressive atrophy | Present; Stable | Present; Subtle; Leptomeningeal; Unable to assess longitudinally | Porencephaly; Left ocular atrophy | 11 years | |
11 | ECDS/PRS | F | 9/17 | Anxiety | Normal | Preserved | Absent | NA | 2 years | |||
12 | ECDS/PRS | F | 14/14 | Normal | Preserved with sulcal crowding | NA | NA | No follow up imaging | ||||
13 | ECDS/PRS | F | 11/7 | Normal | Preserved | Absent | NA | 5 years | ||||
14 | ECDS/PRS | M | 13/14 | Temporomandibular joint dysfunction; Bicuspid aortic valve | Normal | Preserved | Absent | NA | 4 years |
Normal MRI | Abnormal MRI | p | ||||
---|---|---|---|---|---|---|
Patient demographics | Disease | ECDS | 4 | 2 | 0.59 | |
ECDS/PRS | 3 | 5 | ||||
Sex | M | 4 | 2 | 0.59 | ||
F | 3 | 5 | ||||
Additional clinical features | Any | Any | Yes | 5 | 7 | 0.46 |
No | 2 | 0 | ||||
Neurological | Any | Yes | 3 | 6 | 0.27 | |
No | 4 | 1 | ||||
Seizures | Yes | 1 | 5 | 0.1 | ||
No | 6 | 2 | ||||
Headaches | Yes | 2 | 2 | 1 | ||
No | 5 | 5 | ||||
Cranial nerve dysfunction | Yes | 0 | 2 | 0.46 | ||
No | 7 | 5 | ||||
Transient ischaemic attack | Yes | 0 | 1 | 1 | ||
No | 7 | 6 | ||||
Myoclonus | Yes | 0 | 1 | 1 | ||
No | 7 | 6 | ||||
Hyperaesthesia | Yes | 1 | 0 | 1 | ||
No | 6 | 7 | ||||
Gait disturbance | Yes | 0 | 1 | 1 | ||
No | 7 | 6 | ||||
Psychiatric disorder(s) | Any | Yes | 2 | 2 | 1 | |
No | 5 | 5 | ||||
Anxiety | Yes | 1 | 1 | 1 | ||
No | 6 | 6 | ||||
Depression | Yes | 0 | 1 | 1 | ||
No | 7 | 6 | ||||
OCD | Yes | 0 | 1 | 1 | ||
No | 7 | 6 | ||||
Visual hallucinations | Yes | 1 | 0 | 1 | ||
No | 6 | 7 | ||||
Cardiovascular | Any | Yes | 1 | 1 | 1 | |
No | 6 | 6 | ||||
Hypertension | Yes | 0 | 1 | 1 | ||
No | 7 | 6 | ||||
Bicuspid aortic valve | Yes | 1 | 0 | 1 | ||
No | 6 | 7 | ||||
Articular | TMJ dysfunction | Yes | 1 | 0 | 1 | |
No | 6 | 7 | ||||
Muscular | Myositis | Yes | 1 | 0 | 1 | |
No | 6 | 7 | ||||
Laboratory and other investigations | Autoantibodies | ANA | Yes | 3 | 4 | 1 |
No | 3 | 2 | ||||
Anti-smooth muscle | Yes | 0 | 1 | 0.4 | ||
No | 3 | 1 | ||||
RF | Yes | 0 | 1 | 0.33 | ||
No | 4 | 1 | ||||
ENA | Yes | 0 | 0 | 1 | ||
No | 1 | 5 | ||||
dsDNA | Yes | 0 | 0 | 1 | ||
No | 3 | 4 | ||||
Cerebrospinal fluid | Inflammatory infiltrate | Yes | 0 | 0 | 1 | |
No | 0 | 3 | ||||
Neurophysiology | EEG abnormality | Yes | 1 | 3 | 1 | |
No | 0 | 1 |
Demographics | Neurological disorders | Psychiatric disorders | Laboratory | ||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age | Age at diagnosis | Ethnicity | Disease type | Sex | Any | Seizures | Headaches | Cranial nerve dysfunction | Any | Anxiety | ANA | ||||||||||||||||||||||||||||
< 14 | > 14 | p | < 7 | > 7 | p | White British | Other | p | ECDS | ECDS/PRS | p | M | F | p | Yes | No | p | Yes | No | p | Yes | No | p | Yes | No | p | Yes | No | p | Yes | No | p | Yes | No | p | ||||
Specific MRI changes | White matter high signal intensity | n = 6 | Yes | 4 | 2 | 0.59 | 4 | 2 | 0.59 | 3 | 3 | 0.18 | 2 | 4 | 0.63 | 2 | 4 | 0.63 | 6 | 0 | 0.031 | 5 | 1 | 0.026 | 2 | 4 | 1 | 2 | 4 | 0.16 | 2 | 4 | 1 | 1 | 5 | 1 | 3 | 2 | 1 |
No | 3 | 5 | 3 | 5 | 6 | 0 | 4 | 4 | 4 | 4 | 3 | 5 | 1 | 7 | 2 | 6 | 0 | 8 | 2 | 6 | 1 | 7 | 4 | 3 | |||||||||||||||
Dystrophic calcification | n = 5 | Yes | 3 | 2 | 1 | 4 | 1 | 0.27 | 3 | 2 | 0.52 | 2 | 3 | 1 | 2 | 3 | 1 | 5 | 0 | 0.1 | 4 | 1 | 0.1 | 2 | 3 | 1 | 1 | 4 | 1 | 2 | 3 | 1 | 1 | 4 | 1 | 2 | 2 | 1 | |
No | 4 | 4 | 3 | 5 | 6 | 1 | 4 | 4 | 4 | 4 | 4 | 4 | 2 | 6 | 2 | 6 | 1 | 7 | 2 | 6 | 1 | 7 | 4 | 3 | |||||||||||||||
Contrast enhancement | n = 5 | Yes | 3 | 2 | 1 | 4 | 1 | 1 | 3 | 2 | 1 | 2 | 3 | 0.52 | 2 | 3 | 1 | 5 | 0 | 1 | 4 | 1 | 0.52 | 2 | 3 | 1 | 1 | 4 | 1 | 2 | 3 | 1 | 1 | 4 | 1 | 2 | 2 | 1 | |
No | 4 | 1 | 3 | 2 | 4 | 1 | 4 | 1 | 3 | 2 | 4 | 1 | 2 | 3 | 2 | 3 | 1 | 4 | 1 | 4 | 0 | 5 | 2 | 2 | |||||||||||||||
Leptomeningeal enhancement | n = 4 | Yes | 2 | 2 | 0.5 | 3 | 1 | 1 | 2 | 2 | 0.5 | 2 | 2 | 1 | 1 | 3 | 0.52 | 4 | 0 | 1 | 3 | 1 | 0.57 | 2 | 2 | 1 | 1 | 3 | 1 | 2 | 2 | 0.5 | 1 | 3 | 0.4 | 2 | 2 | 1 | |
No | 5 | 1 | 4 | 2 | 5 | 1 | 4 | 2 | 4 | 2 | 5 | 1 | 3 | 3 | 2 | 4 | 1 | 5 | 1 | 5 | 0 | 6 | 2 | 2 | |||||||||||||||
Sulcal crowding | n = 3 | Yes | 1 | 2 | 1 | 2 | 1 | 1 | 1 | 1 | 0.45 | 1 | 2 | 1 | 1 | 2 | 1 | 2 | 1 | 1 | 1 | 2 | 1 | 1 | 2 | 1 | 1 | 2 | 0.4 | 1 | 2 | 1 | 0 | 3 | 1 | 2 | 1 | 1 | |
No | 6 | 5 | 5 | 6 | 8 | 2 | 5 | 6 | 5 | 6 | 7 | 4 | 5 | 6 | 3 | 8 | 1 | 10 | 3 | 8 | 2 | 9 | 5 | 4 | |||||||||||||||
Cavernomata | n = 1 | Yes | 1 | 0 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 0 | 1 | 1 | 1 | 0 | 0.43 | 1 | 0 | 1 | 1 | 0 | 0.43 | 0 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 1 | |
No | 6 | 7 | 6 | 7 | 8 | 3 | 6 | 7 | 5 | 8 | 8 | 5 | 5 | 8 | 4 | 9 | 2 | 11 | 4 | 9 | 2 | 11 | 7 | 5 | |||||||||||||||
Porencephaly | n = 1 | Yes | 1 | 7 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 0 | 1 | 1 | 0 | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0.43 | 0 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 0.42 | |
No | 6 | 0 | 6 | 7 | 8 | 3 | 6 | 7 | 6 | 7 | 8 | 5 | 5 | 8 | 4 | 9 | 2 | 11 | 4 | 9 | 2 | 11 | 7 | 4 |
Demographic, clinical and laboratory predictors of MRI brain abnormalities in ECDS/PRS
Treatment
Discussion
Doolittle | Maloney | Chiu | Knights | ||
---|---|---|---|---|---|
Number of patients | 23a | 10 | 19a | 14 | |
MRI abnormalities | Any | 48%b | 100% | 32% | 50% |
White matter hyperintensity | 35% | 90% | 16% | 43% | |
Dystrophic calcification | 4% | 50% | 5% | 36% | |
Contrast enhancement | 0% | 20% | 0% | 36% | |
Sulcal crowding | 4% | 0% | 11% | 21% | |
Cavernomata | 0% | 0% | 0% | 7% | |
Porencephaly | 4% | 40% | 0% | 7% | |
Other | 17% | 0% | 5% | 0% | |
Neurological manifestations | Neurological symptoms | 43%c | 80% | 42% | 64% |
Seizures | 13% | 50% | 16% | 43% | |
Headaches | 26% | 50% | 16% | 29% | |
Other | 9% | 10% | 42% | 50% |