|
Ancestry
|
Northern Europe
|
Northern Europe
|
Northern Europe
|
|
CAV1 mutation name
|
I134fsdelA-X137
|
I134fsdelA-X137
|
-88delC
|
|
age at assessment (years)
|
28
|
55
|
35
|
|
sex
|
female
|
male
|
male
|
|
lipodystrophy onset
|
birth
|
birth
|
adulthood
|
|
BMI (kg/m2)
|
25.0
|
24.5
|
25.6
|
|
waist circumference (cm)
|
86
|
88
|
92
|
|
Subcutaneous fat changes:
| | | |
|
face
|
decrease
|
decrease
|
increase
|
|
arms
|
decrease
|
decrease
|
decrease
|
|
gluteal region
|
increase
|
increase
|
decrease
|
|
thighs
|
increase
|
increase
|
decrease
|
|
calves
|
increase
|
increase
|
decrease
|
|
visceral
|
increase
|
increase
|
increase
|
|
age of diabetes onset (years)
|
none
|
30
|
33
|
|
hypertension and age of onset
|
none
|
none
|
33
|
|
hyperlipoproteinemia
|
type 5
|
type 4
|
type 5
|
|
pancreatitis
|
recurrent
|
no
|
recurrent
|
|
highest historical plasma triglyceride
|
20.4 mmol/L
|
80 mmol/L
|
16.5 mmol/L
|
|
acanthosis nigricans
|
present
|
absent
|
present
|
|
congenital cataracts
|
bilateral
|
bilateral
|
absent
|
|
atypical retinitis pigmentosa
|
bilateral
|
bilateral
|
absent
|
|
tinnitus
|
moderate
|
absent
|
absent
|
|
nystagmus
|
severe
|
absent
|
absent
|
|
spastic ataxia
|
severe
|
mild
|
absent
|
|
dysdiadochokinesia
|
severe
|
mild
|
absent
|
|
muscle power in lower limbs
|
diminished (4/5)
|
normal
|
normal
|
|
sensory glove/stocking neuropathy
|
severe
|
mild
|
absent
|
|
Babinski sign
|
bilateral
|
absent
|
absent
|
|
finger past-pointing
|
severe
|
absent
|
absent
|
|
other comments
|
wheel-chair bound since age 20; similarly affected paternal aunt (deceased)
|
Patient A's father; legally blind
|
requires 120 U of insulin daily
|
