High T waves remembering hyperkalemia

Corrrected QTc 470 ms

right axis deviation

imcomplete right bundle branch block

slightly prolonged QT interval

Long QT, how is the family history?

Dear D-r Peter, her 42-year-old mother was asymptomatic but also has a similar like daughter QT interval of 527 ms (QTc 522 ms) with a marked delay of the T wave tardy as a long ST segment. This finding is characteristic for long QT syndrome type 3 (vs T wave width  broad based in LQT1). Laboratory tests were normal: specific hypocalcemia as a other reason that can induce a similar long ST segment was not present.  

Rett syndrome : according to the above complaints and symptoms, that girl, mostly, has Rett syndrome and her ECG shows prolonged QT the cardiac disorder which is also of high incidence in Rett syndrome,

RR is nearly 1.08 s.

QT is nearly 480 ms

From above : QT is a little bit more than 1/2 RR and  QTc is about 476 ms, still prolonged.

It would be very appreciated, Dr. Tatiyana, if I have your opinion about what I have mentioned.

 Thank you, Dr Ghid Kanaan!  This is very important diagnostic aid. Indeed our girls have a some criteria for diagnosis of classic Rett syndrome:

• Partial loss of purposeful hand skills
• Partial  loss of spoken language and some signs of autism (disease started as autistic-like behaviors)
• Walking abnormalities
• Repetitive purposeless hand movements, such as rubbing movements
• Rett syndrome is a neurodevelopmenal disorder that affects girls almost exclusively.

I think that mother and her daughter need a genetic verification as search mutation in the methyl CpG binding protein 2 (MECP2) gene. Perhaps, there mother have a MECP2 mutation  but do not show clinical symptoms. These females are known as “asymptomatic female carriers.” What do you think about it?

Dear Dr.Tatiyana, 

Definitely, I agree with you, all this family's females including, the mother, sisters, and the affected girl who met the main diagnostic criteria of Rett syndrome in your case, all of them need to have a comprehensive genetic analysis, however, according to some studies, the prognostic value of such analysis of genotype is limited, besides, normal results will not exclude the diagnosis as it mainly based upon the clinical presentation, actually, more specific studies are required to find out and detect the genotype-phenotype correlation.

In addition to what you mentioned, mother can be either a carrier or a mosaic for the mutation of MECP2 gene, putting into our account that the mutation of MECP2 is not present in all cases of Rett syndrome regardless of its forms,  the typical and the atypical ( The non-classic ), that is why the cornerstone of the diagnosis for Rett syndrome is mainly the clinical presentation ( Clinical features) and then the follow up of its progression such as the girl above who met the diagnostic criteria based upon her clinical characteristics, however, some cases of RTT can only be diagnosed by the retrospective process.

Although most cases of RTT are female, there are 57 rare cases of male with RTT with MECP2 mutation present in 65% of those cases according to  2015 systematic review study.

Indeed, it is a very interesting case, and it would be very appreciated, Dr.Tatiyana,   if you keep us updated in regard to your interesting case.

Dear colleagues, I sincerely thank you all for your engagement and productive discussion. In the future, I will try to present all the results of our genetic testing. Until we limit ourselves to the search for mutations that determine long QT syndrome as a prognostic more important to my mind.

Special thanks to Dr. Ghid, who "opened my eyes" :-)) to the obvious symptoms but not obvious :-( to me Rett syndrome

Best Regards