Magnetic resonance imaging evaluation of cerebral cavernous malformations with susceptibility-weighted imaging.

BACKGROUND: Cerebral cavernous malformations (CCMs) can be sporadic or inherited, the latter characterized by multiple lesions. Novel imaging sequences have increased the sensitivity of detecting multiple CCMs. OBJECTIVE: To compare T2-weighted gradient echo (T2*GRE) and susceptibility-weighted imaging (SWI) sequences in familial and sporadic CCM to assess their respective sensitivity. METHODS: This prospective study included 23 consecutive cases grouped as multifocal/familial CCMs (n=14), solitary/clustered sporadic CCMs with developmental venous anomaly (n=8), and postirradiation CCMs (n=1). Brain magnetic resonance imaging included T2*GRE and SWI sequences. Two radiologists independently counted the number of lesions on each sequence. The difference in the number of lesions on both sequences was compared, and interobserver agreement was evaluated. RESULTS: In multifocal/familial cases, a mean of 34.7 lesions were detected on T2*GRE and 66.9 on SWI (P=.001). The difference of lesion prevalence with the 2 techniques was significant (P=.006), with strong interobserver correlation for the T2*GRE sequence (P<.001) and SWI sequence (P<.001). Patients with solitary/clustered sporadic CCMs, including those associated with venous anomaly, had no difference in lesion prevalence in the 2 sequences. CONCLUSION: SWI is more sensitive than T2*GRE in detecting CCM in multifocal/familial CCMs. Among cases classified as solitary/clustered with conventional imaging, including those associated with venous anomaly, the SWI did not impart additional sensitivity or reveal occult lesions not evident on T2*GRE sequence. No case was changed from the solitary/clustered to the multifocal clinical category because of SWI.

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Young-Simpson syndrome). In two affected sibs with milder phenotype, compensated hypothyroidism was demonstrated. In another family, an affected boy was born to the unaffected sister of a previously reported patient. Finally, in the last sibship, two affected boys in addition had severe microcephaly and neurological anomalies. A definitive clinical and etiologic classification of BMRS is lacking, but closer phenotypic analysis should lead to a more useful appraisal of the BMRS phenotype. We suggest discontinuing the systematic use of the term "Ohdo syndrome" when referring to patients with BMRS. We propose a classification of BMRS into five groups: (1) del(3p) syndrome, (possibly overlooked in older reports); (2) BMRS, Ohdo type, limited to the original patients of Ohdo; (3) BMRS SBBYS (Say-Barber/Biesecker/Young-Simpson) type, with distinctive dysmorphic features and inconstant anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism. BMRS type SBBYS is probably an etiologically heterogeneous phenotype, as AD and apparently AR forms exist; (4) BMRS, MKB (Maat-Kievit-Brunner) type, with coarse, triangular face, which is probably sex-linked; (5) BMRS V (Verloes) type, a probable new type with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia, which is likely autosomal recessive. Types MKB and V are newly described here.