47 patients with FLNA associated periventricular nodular heterotopia
Conclusions:
We report the clinical and mutation spectrum as well as MR imaging for a large cohort of 47 patients with Filamin A associated PVNH including two adult males. Our data are reassuring in regard to psychomotor and cognitive development, which is within normal range for the majority of patients. However, a concerning median diagnostic latency of 17 to 20 years was noted between seizure onset and the genetic diagnosis, intensely delaying appropriate medical surveillance for potentially life threatening cardiovascular complications as well as genetic risk assessment and counseling prior to family planning for this X-linked dominant inherited disorder with high perinatal lethality in hemizygous males.
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Max LangeBurkhard KasperAxel BohringFrank RutschGerhard KlugerSabine HoffjanStephanie SprangerAnne BehneckeAndreas FerbertAndreas HahnBarbara Oehl-JaschkowitzLuitgard Graul-NeumannKatharina DiepoldIsolde SchreyerMatthias BernhardFranziska MuellerUlrike Si Source Type: research
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