[A girl with Down syndrome complicated by moyamoya disease and symptomatic atlanto-axial instability]. 1993

J Takanashi, and K Sugita, and M Ishii, and M Iai, and M Goto, and Y Tanabe, and H Niimi
Department of Pediatrics, Chiba University School of Medicine.

We reported a girl of Down syndrome with both moyamoya disease and spinal cord compression due to atlanto-axial instability. At the age of 3 years, she presented with muscle weakness of gradual onset, and could not walk without support. On admission, at the age of 6, she presented with spastic paraparesis with predominance on the right side. To explain her neurological manifestations, we performed cranial MRI first, and found multiple infarctions with predominance on the right hemisphere, the occlusive changes of internal carotid and middle cerebral arteries, and signal void flow signs in basal ganglia, which suggested moyamoya disease. Although diagnosis of moyamoya disease was confirmed by cranial angiography, discrepancy between clinical manifestations (right-side dominant spasticity) and MRI findings (right-side dominant infarctions) could not be explained. Thereafter, we performed cervical MRI, which showed severely compressed lesions with predominance on the right side, corresponding to her clinical manifestations. It is essential to perform not only cranial but also cervical MRI for a patient with Down syndrome presenting neurological complications.

UI MeSH Term Description Entries
D007593 Joint Instability Lack of stability of a joint or joint prosthesis. Hypermobility, Joint,Instability, Joint,Laxity, Joint,Hypermobilities, Joint,Instabilities, Joint,Joint Hypermobilities,Joint Hypermobility,Joint Instabilities,Joint Laxities,Joint Laxity,Laxities, Joint
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D009072 Moyamoya Disease A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults. Cerebrovascular Moyamoya Disease,Progressive Intracranial Occlusive Arteropathy (Moyamoya),Moya-Moya Disease,Moyamoya Disease, Classic,Moyamoya Disease, Primary,Moyamoya Disease, Secondary,Moyamoya Syndrome,Classic Moyamoya Disease,Disease, Classic Moyamoya,Disease, Moya-Moya,Disease, Primary Moyamoya,Moya Moya Disease,Moyamoya Diseases, Primary,Primary Moyamoya Disease,Primary Moyamoya Diseases,Secondary Moyamoya Disease
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001268 Atlanto-Axial Joint The joint involving the CERVICAL ATLAS and axis bones. Atlanto Axial Joint,Atlantoaxial Joint,Atlanto Axial Joints,Atlanto-Axial Joints,Atlantoaxial Joints,Joint, Atlanto Axial,Joint, Atlanto-Axial,Joint, Atlantoaxial,Joints, Atlanto Axial,Joints, Atlanto-Axial,Joints, Atlantoaxial
D013117 Spinal Cord Compression Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence. Conus Medullaris Syndrome,Myelopathy, Compressive,Extramedullary Spinal Cord Compression,Spinal Cord Compression, Extramedullary,Compression, Spinal Cord,Compressions, Spinal Cord,Compressive Myelopathy,Conus Medullaris Syndromes,Spinal Cord Compressions,Syndrome, Conus Medullaris,Syndromes, Conus Medullaris

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