Moyamoya like arteriopathy in Down syndrome: meta-analysis and clinical epidemiological study

MOYAMOYA LIKE ARTERIOPATHY IN DOWN SYNDROME: META-ANALYSIS AND CLINICAL EPIDEMIOLOGICAL STUDY (ABSTRACT)^*. DISSERTATION. CAMPINAS, 2000.

PAULO ALVES JUNQUEIRA^**

Patients diagnosed with Down syndrome and cerebrovascular abnormalities similar to those detected in moyamoya disease (moyamoya phenomenon) have been systematically described in the last 20 years.

This paper has the goal of studying two children diagnosed with Down syndrome who presented with an acute ischemic vascular condition, and were cared for at the Child Neurology Department of FMC – UNICAMP, and reviewing the literature pertaining to this theme.

The patients were clinically and neurologically evaluated, imaging tests were performed and a meta-analysis was conducted including all the cases in the literature presenting the above association in the period of 1977 to 2000.

Forty cases reports were found plus two cases followed by the author. Nine were infants (up to two years of age ), nineteen pre-schoolers (2-6 years of age), six children in school age (7-12 years of age), five teen-agers (13-19 years of age) and only three adults (over 20 years of age). The gender ratio was 1:1.33 (male/female ratio). With regard to the disease subtype, the transient ischemic attack (TIA) type was reported in 7 patients (16,6%), the infarction type in 32 (76,2%), and the hemorrhagic type in 3 (7,2 %) . The age of onset of signs and symptoms ranged from six months to 27 years of age, with a peak incidence occurring between one and six years.The patients included in the meta-analysis came from 12 different countries, and of the total 13 came from Japan. Hemiparesis was initial clinical symptom in 33 cases (78,5%), followed by speech disorders in 11 cases (26,2%), seizures in 6 cases (14,3%), and, with a lower incidence, from most to less frequent, involuntary movements (chorea), muscle weakness, facial paralysis, headache, optical atrophy and cortical blindness in the remaining cases. In 24 patients, at the time of diagnosis, there was only one neurological disorder present; in 15 patients, two concurrent disorders; and in 3 patients, three concurrent disorders. Vascular involvement was bilateral in 35 cases (83.3%) and unilateral in 7 cases (l6.7%). Congenital heart defects were present in 10 patients (23.8%), and among those, ventricular septal defect was the most frequent condition (40%). Ischemic episodes were recurrent in 26 patients (62%) and isolated in 16 (38%).

These data highlight the frequent association between Down syndrome and moyamoya disease, so that, when faced with Down syndrome patients with acute hemiparesis episodes, the hypothesis should be raised of an ischemic vascular condition including moyamoya syndrome in the differential diagnosis.

KEY WORDS: cerebrovascular disorder, stroke, Down syndrome, moyamoya.

**Address: Rua Mario Borin 500, 13209-030 Jundiaí SP, Brasil. E-mail: [e-mail]

*

Arteriopatia do tipo moyamoya na síndrome de Down: estudo clínico-epidemiológico através de metanálise (Resumo) . Dissertação de Mestrado, Faculdade de Ciências Médicas da Universidade de Campinas – UNICAMP (Área : Neurologia) . Orientadora : Maria Valeriana Leme de Moura-Ribeiro.

Publication Dates

• Publication in this collection
  07 June 2001
• Date of issue
  June 2001