Brain perfusion SPECT and EEG findings in Rett syndrome

Abstract

Thirteen patients (mean age 8.4 + 5.3 years) with Rett syndrome (RS) were studied with EEG and 99mTc-HMPAO SPECT. Eleven patients had background abnormalities and 10 patients paroxysmal activity in EEG. Hypoperfusion of varying severity was detected in 11 patients, 7 patients having multiple lesions. Bifrontal hypoperfusion, observed in 6 patients, was the most distinctive finding. Hypoperfusion was observed also in other cortical regions, except for the occipital lobes. There was no correlation between severity of the background abnormality or presence of paroxysmal activity in EEG and grade of hypoperfusion. There was, however, an association between the severity of hypoperfusion and early manifestation of symptoms in patients with RS. Whether this early-onset group of patients represents a different disease entity or only reflects disease variability the basic pathology being the same, is a possibility that deserves further clarification.

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

“…These findings are in agreement with the previous reports of morphological, radiological and functional abnormalities in these areas, consistent with a statement that structures in the midbrain and in the frontal lobes may have particular pathophysiological relevance in RTT (Burroni et al. 1997; Lappalainen et al. 1997; Naidu et al.…”

Diagnostic Nuclear Medicine

“…Both measures declined with advancing age. The loss of hyperfrontality is also stressed in a study with 13 patients (Lappalainen et al 1997). SPECT-ECD brain imaging confirms decreased perfusion in the frontal and fronto-parietal cortical areas (Burroni et al 1997).…”

Vascular Dysfunction in a Mouse Model of Rett Syndrome and Effects of Curcumin Treatment

“…Furthermore they present severe progressive anomalies, such as autistic features, seizures, developmental delay, loss of acquired motor skills and speech [7], [8], [9], [10]. In addition to the prominent neurological symptoms, children with RTT frequently present reductions in skeletal growth, hypo-perfusion in the area of midbrain and upper brainsteam, constipation, contracted joints, and poor circulation, which lead to bluish tints to their feet and legs [11], [12]. Hydrotherapy and physiotherapy to the extremities is often used to regain proper circulation and helps to keep their extremities limber [13].…”