 |
|
|
|
Same difference |
|
|
|
| More atypical cases of CPT II deficiency have been reported in recent years. In 1994 Canadian investigators reported recurrent pancreatitis in an 18-year-old woman with CPT II deficiency. | |
|
|
 |
The attacks occurred from ages 12 to 15 and were triggered by prolonged exercise and a fatty diet. The patient was active in sports and complained of severe aching and stiffness in legs, arms, back, neck, and chest wall. Even prolonged chewing of gum caused soreness in her jaw muscles. From age 5, she had experienced muscle pain and fatigue following an hour or more of exercise. The investigators suggest possible mechanisms by which CPT II deficiency could trigger pancreatitis. They also recommend monitoring pancreatic enzymes during episodes of acute metabolic decompensation in CPT II deficiency. In other atypical cases of CPT I and II deficiency, investigators have reported: 
a 23-year-old Japanese man with seizures.
a 16-year-old American male with permanent
weakness.
a Israeli woman with fixed proximal
weakness.
a 72-year-old British woman with mitochondrial
abnormalities.
a 13-year-old Japanese girl with severe prenatal brain
damage.
two infant Japanese males with a “brain type” CPT II deficiency.
two American Hispanic teenagers with multi-system organ
failure.
a 7-year-old Israeli girl with severe periodic febrile
myalgia.
a 4-year-old American girl with malignant
hyperthermia.
an 8-month old Israeli infant with myoglobinuria.
a 54-year old American woman with progressive
myopathy.
a 4-year-old boy with "muscle mutations" and hypoglycemia.
a child in Saudi Arabia with postoperative
coma.
two Ashkenazi Jewish siblings with rare
antenatal form.
|
|
For
other atypical
case histories, visit 
