This chapter contains detailed, up-to-date information about the nature,
diagnosis, and treatment of those relatively uncommon types of cerebrovascular disease
that cause strokes. Although many of the conditions discussed are rare, the chapter
covers the causes of up to 10% to 15% of all strokes and of up to 40% of strokes in
young adults. This chapter may be an essential resource to help physicians diagnose
and treat stroke patients who do not fit well into the usual clinical categories.
Discussed in this chapter are the various form of inherited small vessel disease such as
CADASIL but even the less known Col 4A1/2 related syndromes, CARASIL, TREX1-
gene mutations disorders and the cerebroretinal microangiopathy with calcifications
and cysts. Three form of metabolic disorders causing stroke such as Fabry disease,
Homocystinuria and MELAS as well as the most relevant form of hematological
disorders (antifospholipid syndrome and sickle cell disease) are discussed. Finally
intriguing disorders such as migrainous infarction and drugs related stroke disorders are
detailed as well as some other rare disease such as Kohlmeier–Degos disease and acute
posterior multifocal placoid pigment epiteliopathy.
Keywords: Antifospholipid syndrome, Cerebral infarction, Cerebral small vessel
diseases, Drugs, Genetic disorder, Metabolic disorders, Sickle cell disease, Stroke.
