Strokes, cutis marmorata telangiectatica congenita, and factor V Leiden.
Cutis marmorata telangiectatica congenita is an uncommon, congenital cutaneous condition typified by persistent cutis marmorata and other associated abnormalities. Progressive neurologic complications are generally not a feature of the disorder. A case is reported of cutis marmorata telangiectatica congenita associated with diffuse cerebrovascular infarcts at 7 months of age. Moyamoya-like vascular abnormalities were demonstrated in addition to the factor V Leiden mutation, a congenital hypercoagulable disorder. This novel case illustrates the importance of evaluating children with strokes for congenital thrombophilic disorders.
Gruppo
R A
RA
Division of Hematology/Oncology, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
DeGrauw
T J
TJ
Palasis
S
S
Kalinyak
K A
KA
Bofinger
M K
MK
D000015:Abnormalities, Multiple; D001778:Blood Coagulation Disorders / Q000150:complications* / Q000235:genetics; D001929:Brain Edema / Q000209:etiology; D002533:Cerebral Angiography; D002544:Cerebral Infarction / Q000209:etiology*; D004198:Disease Susceptibility; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006618:Hip Dislocation, Congenital; D006801:Humans; D007223:Infant; D007870:Leg Length Inequality; D009072:Moyamoya Disease / Q000150:complications*; D011486:Protein C / Q000378:metabolism; D012640:Seizures / Q000209:etiology; D017445:Skin Diseases, Vascular / Q000150:complications*; D014552:Urinary Tract Infections / Q000150:complications; D014822:Vitreous Body / Q000002:abnormalities
D011486:Protein C; C095381:factor V Leiden; D005165:Factor V