Birth anamnesis: the patient was born on the 38th week of pregnancy. Weight 3170g, height 49cm, head girth 34cm.
Apgar 9/9 points. The mother at the age of 38 years, III pregnancy, I birth, calculated risk for trisomia 1:831. Was directed
to the Tallinn Children’s Hospital for examinations due to suspicion of Down disease. The diagnose was confirmed as a result
of a cytogenetic examination. In addition had staphylococcal septitsemy during that period. The patient has the defect of the
dividing wall of the atrium ventricles together with a coronary insufficiency. A cardio surgical proceeding was done at the
Tartu University Clinic in 2009.
The child was born from the 3rd pregnancy 1st lab our, with a trisomia risk 1/831. After birth the child had a phenotype
like trisomia 21: mongloide eye-cut, low ears, scruff, ape-crease, moderate muscle hypotonia.
At the chromosome examination the diagnose ML Down (Trisomia 21, meiotic dis-divergion) was confirmed. The child also
has the disability of the divider of the paunches of the chambers, operated a. pulmonalis banding in April 2009. Also
obstructive HC after meningoentsephalitis, that was shuntated in April 2009.
Repeated bacterial infections.
Constant treatment with Digoxin, Furosemid and Verospiron due to cordial insufficiency.
The child has a backwardness in psyhomotorical development but the progress in development is noticeable. The gain in
weight is positive but slow.
Update 7/15/10
HC is compensated. A photo-diagnostics of the brain is planned for
September 2010 in order to evaluate the dynamics and the condition of the
shunt.
The defect of the heart is an antrioventricular septal defect (in other
words the defect is both - arterial and venticular), operation dor closing
the defect is planned for the fall of 2010.
Phone: 50 322 52
Was at the hospital (from, until) 13.10.2010 09:19 - fO, J^o/o^j Bed days: 15
Main diagnosis:
Code Level Title
Q90.0 Trisomia 21, meiotic indivergence
Additional diagnosis
Code Level Title
Q21.2 Disability of the dividing wall of the atrium ventricles
G09 Residual signs of inflammatory central nervous system diseases (V-P shunt)
I50.0 Congestive heart deficiency
R62.0 Delayed milestone
Anamnesis
13.10.2010 – a girl at the age of 1 year and 11 months invited for the planned evaluation of development, for a consultation
with a cardiologist and for physiotherapy. Was with us last about 5 months ago.
Has a Down syndrome, learned AVSD (pulminaüs banding in april 2009), c/p is complicated (also receives Furosemid 4,5
mg x 2 for constant treatment). Next OP – this fall?
In addition an obstructive HC that is likely to be consequent to meningoencephalitis and that has been shunted in ( April
2009) – last time a CT was done of the head and a consultation was held with Dr. Paal – HC is compensated, shunt is
functioning, does not need surgical interruption at the moment. A recommended CT of dynamics at the age of 2,5 years.
The child has constant problems with weight but at the present time she is gathering flesh, her menu consists of vegetables
with meat, porridge, fruit puree – eats with a spoon + partially from a feeding bottle (+ 1 kg with 5 months).
Has a slight backwardness in development but has progress. She has started to sit up on her own lately.
Until now the thyroid gland function ii. Last times the IgG was a bit higher than normal (has a clinical disposition to
constipation).
Has had otites several times, OAE has not been through until now (has had a running nose + otitis every time).
Has received multiple courses of physiotherapy.
Objective find:
13.10.2010 – weight 8100, height 77 cm, head girth 42 cm – all the indicators < 3 ts but she is recuperating.
Head is microcephal.
Has 8/8 teeth in her mouth.
Has a backwardness in psychomotorical development (mental > motorical). She actively grabs for toys , puts them in her
mouth and from one hand to another. She actively turns on her stomach and back, Hold her head steadily. Rises to situ p on
her own and sits on her own as well.
Does not react to her name but has reaction to noise and music.
27.10.2010 hearing studies with Dr. Post
Decision: hearing is in order
Consultation
14.10.2010 – speech therapist. The development level of the child at the age of 1 year and 11 months does not reach over
the level of a child at the age of 6 months (based on BSID-II). Is able to contact with, is quite emotionless. Stereotypical
behavioral lines: routine manipulation with objects. Turns her head when she hears a sound. Has selective reactions to an
object in her sight. Has insufficient abilities to use seeing? Eats mostly from a feeding bottle.
18.10.2010 – protocol of physiotherapy.
It is difficult to motivate the child to move. Movements are stereotypical.
Physiotherapeutic problems: muscle tonus has lowered. Lagging motorical development.
Physiotherapeutic goals: teaching her to lean on her feet.
Recommendations: stimulating her to lean on her feet (a walking chair might be tried), squatting exercises, teaching to
crawl.
20.10.2010 – Dr. Kuznetsova.
The child has Down syndrome. Mongoloid eye-cut. The child observes. Eye-base (tsycloplegy): discs n. optici pinkish, oval
shape, blood-vessels are meandering.
Summary and recommendations:
28.10.2010 - a girl at the age of 1 year and 11 months invited for the planned evaluation of development, for a consultation
with a cardiologist and for physiotherapy. Was with us last about 5 months ago. The child has a slight backwardness in
development. She was tested by a speech therapist and a physiotherapist (received 7 x physiotherapy). Slow development in
motorics exists but her mental level is still at appropriate for a child at the age of 6-7 months.
Elsa has a satisfying appetite, eats solid food without problems. Has been examined by a cardiologist, the defect is
compensated at the moment. Pro BNP has not risen in dynamics.
EHHO – has not gotten worse, a new consultation with Tartu – no OP this year, maybe in the beginning of the next year?
To continue with diuretical treatment with the same dosage (4,5 mg x 2 Furosemid = 1mg/kg/die), to be controlled after 3
months.
Elsa’s HC clinically compensated, the lower end of the shunt is in the small pelvis.
The surgery has been postponed. She will go to see the doctor in March and
then the time of the surgery will be decided.Extract from a medical history
Elsa Tammemägi, 60811177073
Diagnosis: Trisomia 21, meiotic divergence, Disability of the dividing wall of the atrium ventricles, Coronary insufficiency
Birth anamnesis: the patient was born on the 38th week of pregnancy. Weight 3170g, height 49cm, head girth 34cm.
Apgar 9/9 points. The mother at the age of 38 years, III pregnancy, I birth, calculated risk for trisomia 1:831. Was directed
to the Tallinn Children’s Hospital for examinations due to suspicion of Down disease. The diagnose was confirmed as a result
of a cytogenetic examination. In addition had staphylococcal septitsemy during that period. The patient has the defect of the
dividing wall of the atrium ventricles together with a coronary insufficiency. A cardio surgical proceeding was done at the
Tartu University Clinic in 2009.
Receives diuretical treatment due to coronary insufficiency with Furosemid and Verospiron. Constantly being observed by a
cardiologist.
In addition the child has the following diagnoses:
27.01.2009 severe pneumonia Kandidas
27.06.2009 severe tubulointestinalnefritis
23.08.2009 severe running nose
14.09.2009 Lagging developmental sign
05.05.2010 Nose faucal infection Serrosic middle-ear infection
09.12.2010 Faucal infection
Kristel Kolga
10.03.2011 /signature/
Vaccinations
Elsa Tammemägi, 60811177073
02.01.2009 BCG
02.01.2009, 03.01.2010, 04.05.2010 Hepatitis B I
21.04.2010, 17.06.2010, 11.08.2010 Diptheria-tetanus-pertussis-poliomyelitis-hib
14.02.2011 measles, rubella, mumps
15.01.2009, 25.03.2009 RSV
Kristel Kolga
10.03.2011 /signature/
| Medical Information for Elsa T. |
