New onset focal weakness in children with Down syndrome

Abstract

New onset focal weakness is relatively common in patients with Down syndrome (DS), and has broad differential diagnosis. Ten cases of new onset focal weakness in patients with DS were encountered or are currently being followed in two DS clinics, with a combined population of patients of approximately 850, for a clinic population prevalence of 1.2%. The median age at presentation was 4 years old (range 1 month-44 years). The causes of new onset focal weakness were: stroke from Moyamoya disease (two patients); stroke from vaso occlusive disease (one patient); stroke from venus sinus thrombosis (one patient); traumatic subdural hematoma (one patient); brain abscess (one patient); spinal cord injury (SCI) from cervical spinal stenosis (two patients); SCI from atlantoaxial instability (AAI) (one patient); and brachial plexus injury (one patient). Of the 10 patients with focal weakness, 8 had potentially treatable conditions, and 5 had surgery. The differential diagnosis of new onset focal weakness in DS is broad, with diseases reported involving all levels of the nervous system from brain to muscle. For some diagnoses, expeditious diagnosis may improve outcome.

Cervical arterial dissection and ischaemic stroke in children: two cases

“…1E). Intracerebral vascular dysplasia was not observed (5). Transthoracic and transoesophageal echocardiography excluded intracardiac thrombus and residual shunts associated with paradoxical embolism.…”

“…Rapid hyperextension leads to carotid artery stretching over the cervical vertebrae. The predisposition for hypotonia, ligamentous hyperlaxity and primary angiopathies along with airways flogosis of this patient increased the risk for dissection (2,5,6). Head hyperextensions that had begun some weeks before dissection may have triggered the event.…”

Fluctuating Hemiparesis Secondary to Moyamoya Phenomenon in a Child with Down Syndrome: a case report

“…Down syndrome in association with moyamoya has been reported since the 1980's and ischemic vascular pathologies in general are common. Infact, new-onset focal weakness is not uncommon in Down syndrome and moyamoya syndrome is one of the more common causes [ 3 ].…”

Unilateral Basal Ganglia Infarcts: A Red Flag for Ipsilateral Cranio-Cervical Arterial Occlusive Disease

“…There are differential considerations other than moya-moya in patients with Down's syndrome (DS) which can cause new focal deficits. These include thromboemboli from CHD which may be seen in a younger cohort, cord compression related to atlanto-axial instability, or developmental spinal canal stenosis in an older cohort 21 . Patients with DS are predisposed to generalized vascular diseases, as seen in abnormal nail-bed capillary morphology, high pulmonary vascular resistance, abnormalities of the retinal vessels, and primary intimal fibroplasias 22 .…”