OOA (Old Order Amish)

Inheritance: autosomal recessive
Genes: 3p24.2-26

MYMY
Spontaneous occlusion of the circle of Willis
MYMY1

Stroke
Basal ganglia
Brain telangiectasis
Carotid artery stenosis
Intracranial hemorrhage

Moyamoya Disease 1

Clinical Characteristics

General description (for patients):

This disease can cause strokes in the brainstem of young patients, primarily under the age of 10 years.  The carotid artery inside the skull becomes occluded for unknown reasons and damage to the brain structures result with symptoms of a stroke.  In older individuals, brain hemorrhage is more common.  It occurs mainly in Asians, mostly sporadically, and only one Amish patient has been reported.

Medical description:  

This disorder usually presents with symptoms of brainstem ischemia in children under the age of 10 years, while adults are more likely to present with an intracranial hemorrhage.  The etiology seems to be stenosis of the terminal portion of the intracranial carotid artery, together with occlusion of the circle of Willis, resulting in ischemia in children.  Telangiectasia of the brain stem follows and rupture leads to the intracranial bleeding.  Diagnosis rests on alertness to the syndrome, substantiated by neuroimaging.

Genetics:

The syndromal status of this disorder seems established but its genetic origin remains uncertain. Only 10% of cases are familial.  Studies of familial cases in Japan identified a locus on chromosome 3 (3p24.2-26) using 16 families.  A single Amish patient has been reported, but this individual also had pyruvate kinase deficiency which may have been responsible.

Inheritance:

Unknown

Treatment:

No treatment is known.

Prognosis:

Outlook is dependent upon the extent of the ischemia and/or the cranial hemorrhage.  Many patients live to adulthood.

Ancillary treatments and support:

Thrombolytic drugs may be helpful in the acute stages of ischemia in young people.

Specialists and specialty centers:

Neurologist, Neurosurgeon.

References:

Ikeda, H., Sasaki, T., Yoshimoto, T., Fukui, M., and Arinami, T.: Mapping of familial moyamoya disease gene to chromosome 3p24.2-p26. Am. J. Hum. Genet. 64: 533-537, 1999. PubMed ID: 9973290

Gadoth, N., and Hirsch, M.: Primary and acquired forms of moyamoya syndrome: a review and three case reports. Israel J. Med. Sci. 16: 370-377, 1980.  PubMed ID: 7399866

Resources:

Ali's Rally Foundation