Multiple coagulation defects and the Cohen syndrome.

[cohen syndrome]

A 13 -year -old male presented with new onset seizures , sagittal sinus thrombosis with cerebral hemorrhage , and extensive venous thrombosis of the lower limbs . Laboratory investigation demonstrated combined deficiency of protein C , protein S , and antithrombin III . He and his 17 -year -old sister had a mental retardation -multiple anomaly syndrome associated with microcephaly , unusual facies , and lax connective tissue . Their dysmorphology included elongated faces with narrow forehead , arched eyebrows , large mouth with down-turned corners , malformed teeth , and furrowed tongue . Both had Marfanoid habitus with lax joints , pectus excavatum , kyphoscoliosis , and flat narrow feet . The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation , congenital hypotonia with Marfanoid habitus , microcephaly , pleasant affect , micrognathia , and open mouth with prominent incisors . The sagittal sinus thrombosis , left frontal intracranial hemorrhage , carotid aneurysm , tortuous descending aorta , and deep venous thrombosis suffered by the male sibling adds the Cohen syndrome to genetic vasculopathies that may be associated with stroke .

Diseases
Validation

Diseases presenting "stroke" symptom

acute rheumatic fever

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

cadasil

cohen syndrome

dedifferentiated liposarcoma

fabry disease

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kallmann syndrome

locked-in syndrome

malignant atrophic papulosis

neuralgic amyotrophy

sneddon syndrome

thoracic outlet syndrome

werner syndrome

zellweger syndrome

This symptom has already been validated