Table 1. Clinical Characteristics of Nav 1.9 Channelopathy: Our 3 patients and previous reports*.
Clinical characteristics | Our study | Leipold E, 2013 | Wood CG, 2014 | |||
---|---|---|---|---|---|---|
Proposita | Son | Daughter | 1 | 2 | ||
Ethnicity | American | American | American | German | Swedish | Scottish |
Sex | F | M | F | F | M | F |
Age at first evaluation (years) | 10 | 3.5 | 1.5 | NR | NR | NR |
Neurological features | ||||||
Intelligence | Normal | Normal | Normal | Normal | Normal | Normal |
Cranial nerves | Normal | Normal | Normal | NR | NR | NR |
Sensation: light touch, temperature and propioception | Normal | Normal | Normal | NR | NR | NR |
Deep tendon reflex | Normal | Normal | Normal | NR | NR | NR |
Nerve conduction | Normal | ND | ND | Normal | ND | ND |
Musculoskeletal features | ||||||
Multiple painless fractures | Yes | Yes | Yes | Yes | Yes | Yes |
Age at first fracture (years) | 2 | 2.5 | 1 | NR | NR | NR |
Numbers of fractures | 4 | 12 | 8 | NR | NR | NR |
Fracture sites | Tibia, fibula, talus, metatarsal | Elbow, tibia, fibula, calcaneous, cuboid, metatarsals | Ulnar, tibia, femur, calcaneous | NR | NR | NR |
Hypermobile joints | Yes | Yes | Yes | NR | NR | NR |
Charcot arthropathy | Yes | Yes | No | Yes | Yes | Yes |
Muscle weakness | No | No | No | Yes | Yes | Yes |
Neuro-cutaneous features | ||||||
Insensitivity to pain | Yes | Yes | Yes | Yes | Yes | Yes |
Self- inflicted injury | Yes (excoriated right alae nasi) | Yes (abraded tongue with teeth and scratched skin) | Yes (biting lip and scratched skin) | Yes | Yes | Yes |
Skin ulcer at posterior cervical region | No | Yes (chest wall, back) | Yes | Yes | Yes | Yes |
Slow wound healing | Yes | Yes | Yes | Yes | Yes | Yes |
Pruritus | No | Yes | Yes | Yes | Yes | Yes |
Intermittent body sensation of electrical pain | Yes | Yes | Yes | No | No | No |
Excessive sweating | No | No | Yes | Yes | Yes | Yes |
Heat/cold weather intolerance | No | Yes | Yes | Yes | Yes | Yes |
Gastrointestinal features | ||||||
Chronic diarrhea | Yes | Yes | Yes | Yes | Yes | Yes (during first 1-2 years of life) |
Failure to thrive | No | No | Yes | Yes (Required parenteral nutrition) | Yes (Required parenteral nutrition) | Yes |
Episodic abdominal pain | No | No | No | No | No | Yes |
Perineal discomfort on passing motion or urine | No | No | No | No | Yes | Yes |
Rectal pain from defication | No | No | No | No | Yes | Yes |
NR = No report, ND = Not done