Janna Syed Mansoor (cpr. Nr: 14 -07 -07)  Journal

 

Rigshospital Denmark, Neuropeadiatric amb. 5003

 

3.2 2009

Meeting in Glostrup Hopital regarding Janna, with Doctor Lise Lykke (they said that it may be a muscles disease).

 

 

Disp: Father from Pakistan, mother from Denmark, no relations between parents and family. No neurologist disease or other relevant disease in the family of both. Her big brother 3½ years old and healthy and no complications.

 

Before:

No complications at birth or during pregnancy. Weight 2851 g. apgar 10/1, fine neonatal developed, good eye contact (normal), fine eating habits. Fully well.

 

Journal from beginning:

When she was 7, 8 month old parents thinking maybe there is something wrong, she is silent, do not move a lot. Her muscles were very weak (are still not strong, but is getting stronger in her legs). She was and is Hyperton in the muscles. She has a fine head control and she could sit for her self since she was 7 or 8 month years old. She can not turn from back to stomach or vice versa. She can't stand up, and she can't crawl. If the parents take her and stands her, then she can hold to them and stand for a wile. She could not do this before (after 14, 15 months she is improving in standing, while holding to something).

 

She used to play with thing and hold on to them, like any child.

She used to say a few words, maybe 5 to 8 words when she was around 8 to 12 month old.

She didn't have any problem with contact, or eye contact.

 

She lost all these things/capabilities suddenly, when she was around 13 month old. (don't play with anything, her contact was lost, no words at all).

 

She has developed some strange movements with her hands (specially her right hand). And some times she screams.

 

But when she was around 16 month old, she began to improve again. She says a word or two, she can stand with help for almost an hour (before she couldn't even for 5 minutes), her contact is getting better, and it is like she understands a lot of small things.

 

Physiotherapy has followed her since she was around 14 month old, and they say, that she is improving very slowly.

 

She has no problem swallowing food, breathing is normal, and no hyperventilation.  

 

Medicine: 0

 

Socially: brother healthy, look after at home, (parents are looking for a special institution for maybe 2 hours a day, training her muscles, her speaking, words and so on).

 

Length: 80,5 cm. weight 10 kg. Her head scope47 cm. is normal like others. No dysfunctions /dysmorphic signs in body or face. Stereo type movements, rubs her hands, is not interested in things (maybe shortly). Do not anything/ do not use her power to stand up or crawl.

 

3.2.2009

 

Her reflects are normal, but she is hyper mobile, she has a Batemscore 8 to 10, her hyper mobile is in UE and OE. (no difference between proximal and distal).

 

Blood test: standard, inc. CK is normal. Lactate is 2,1, Carnitin profile is normal.

 

Conclusion:

She is retarded, problems with her motor and physical skills. She is hypoton, her muscles power is weak. Her eye contact is not good, no language.

 

2.4. 2009 neuropead. Amb. 5003N.

MR scanning answer. MR Scanning (neurometabolic) is made, and it did not show anything wrong with her brain.

 

All blood tests are normal, without one: pipe carbonic acid is high.

 

Supply with blood test for:

Rp: array cgh

Rp: DNA for MACP2 Mutation (Rett Syndrome)

Rp: CTG and Array CGH.

 

23/4.2009: family wanted an acute time, after found information about Rett Syndrome on the internet. Janna has all symptoms of Rett.

 

________________

 

24.4.2009

 

Objective:

 

DNA, diagnostic for Rett syndrome shows heterozygot for mutation c.473C>T, T158M. The mutation is found earlier in patients with typical Rett syndrome. The diagnose of Rett is confirmed genetic. Close family should have genetic information.

Note from 7.3.2009 from eye doctors at KAS Glostrup Hospital shows that Janna's sight is not as good as others in her age and has big astigmatism. Until now it's not sure that Janna needs glasses. She's going to be observed. Further she's suggested ERG and VEP because possible sickness. Janna's father says they have a new appointment.

 

Father is informed by phone about the sickness and our funds of the mutation, and that this mutation appears often spontaneous as new mutation. A little part could be because of gonade mosaicism, and in cause of a new pregnancy diagnostic of the foetus.

Appointment with father and Jytte Beiber, Kennedy Centret, and an appointment with the physiotherapist.

 

Now we got all the result and Janna has Rett syndrome and not a muscle sickness. I think it's relevant that I get an appointment with Susanne Blichfeldt as quickly as possible at L55, KAS Glostrup, so they can keep the control and counselling. 

Today we faxed the journals and also DNA answers to KAS Glostrup. The nurse Lene has promised to get an appointment for an ambulant control. If nothing happens shortly we must give them a time here, so they can ask questions and get informations (apostrof fjernet).

 

Reference to Jytte Bieber, The Kennedy Center.

Awaiting answers from KAS Glostrup

 

13.5.2009 neuropeadiatic amb. 5003

 

A call from Lene Hansen, KAS glostrup L55. Janna has an ambulant time 25.5.2009 with Susanne Blichfeldt and control for Rett syndrome.

Further genetic counselling with Jytte Bieber, The Kennedy Center, and here the ambulant quit.

 

A copy of this to the parents.

A copy to KAS Glostrup.

 

Lise Lykke Thomsen /kp