Medical Information for Marina

Name: Marina


Department: the department on children’s illnesses ()

Clinical Diagnosis:

Main illness:

disorders of the metabolic lysine and hydrolysine E 72.3

Other illnesses:

other specified illnesses of the brain G93.8

unspecified heavy infections of the upper respiratory

Primary diagnosis:

disorders of the metabolic lysine and hydroclysine E72.3



Anamnesis: The child was brought to the Ida-Viru Central Hospital for further maintanance and treatment. On 01.09.2006
the one-year-old Marina was hospitalized to the intensive care department of the Narva Hospital in a state of coma and with
a syndrome of convulsion, sugar 0,3mmol/l, hypotermia. 02.09.06 the child was taken to the intensive care department of
the Tallinn Children’s Hospital in a difficult overall condition. The child was born from the VI pregnancy, V birth. In the
family amnesis one child had an incident of sudden death at the infant age. Mother and father did not visit the falily doctor
with Marina even once nor did they invite the doctor to come home. The mother has a moderate mental underdevelopment
due to what she has periods when she does not act adequately. The psyhomotorical development has slowed down (according
to the mother the child only crawled, did not sit or stand on her own), the child’s weight was 6,6 kg at the age of one year.
The child was at intensive care department of the Tallinn children’s hospital from 02.09 until 06.10.2006; artificial
ventilation of the lungs for 29 days. Had repeated convulsions while at the intensive care department, had an epiletical
status during what on 04.09 she had an episode of brain edema. It was analyzed by genetics who excluded infection and
trauma. The child was diagnosed with type I glutaratsiturail. The child remained under further treatment at the infant
department of the Tallinn Children’s hospital until 28.12.06. The child was in a very  difficult condition during
hospitalization, did not have the reflex to  swallow, was fed through a sonde, heart activity and breathing were stable, did
not have any contact, at times turned bulbuses up, constant increase of temperature. The child receives K-karnintin
100mg/kg/die constantly for treatment. Slow positive dynamics, the child opened her eyes, short-term observation, the
convulsions stopped (the treatment for convulsion was finished on 14.11), spatical tetraparesis. The child has lekotsyturia,
urineculvis, Klebsiella pneumonia. The child has got a remaining brain damage due to long-term epileptic status and
swelling of the brain stem and therefore the prognosis for further development are very serious. The child was under
treatment and maintenance at the children’s department of the Ida-Viru Central Hospital from 28.12.2006 until
24.01.2007. During the child’s time at the department she has a quite satisfactory condition, made only a few active moves,
has got eye contact, growth of the muscletonus, going from feeding through a sonde to feeding by pacifier and a spoon. The
child started to respond to voices, she cries with a loud voice, has developed a reflex to swallow. On 24.01.2007 the child was
taken to the children’s department of the Narva Hospital.

During the time of hospitalization the overall condition was of a medium difficulty, low activity, the child needs constant
help in turning and rolling over, has nasogastral sonde, a lot of salivation, the reflex to swallow is still weak, regular
aspiration of the upper respiratory is needed, has eye-contact, sometimes fixes her look on lateral for a short-period of time,
skin is pink, clean, hear-tones are regular, a vescular breathing murmur in the lungs, abdomen soft, spastic tetraparesis.
During her stay at the hospital the overall state was stable, raising fever with central genesis, neurological find persists, the
reflex to swallow has improved but sometimes she needed the cleaning of the upper respiratory with and aspirator due to
heavy salivation and weak swallowing reflex. On 2801.07 the condition got worse due to entero virus infection. The analyses
for Rota- and adenovirus were negative. Infusion-treatment and probioticum treatment caused the overall condition to get
better. 14.02 the fever rose over 39 degrees C, catarical indicators and cough. The x-ray finding was without infiltrative
changes, CRV2 mg/l, ESR 14mm/t, the analysis of urine were according to norm. The child receives constant L-carnitine.
On 19.02.07 the overall condition got better, catarical indicators reduced, neurological find was stable, feeding with a
pacifier and the mother took the child home on her own responsibility (a written confirmation of her own responsibility). The
medications were supplied.



The evaluation of the patience health when sent home from the hospital:

Overall condition is stable and quite satisfactory, catarical indicators have reduced, feeding with a pacifier (takes time), is
sucking with variating intensivity, spastic terapares.



Medications and treatment recommendations for further treatment:

L-carnitine 100mg/kg/die per os NB! LIFELONG, Fenibut 62,5mgx2 per os, multivitamines, feeding with puree food meant
for small children. NB! The child needs regular maintenance of a laying patient, turning her over every two hours, skincare,
dental hygiene. To issue a disability degree and a rehabilitation plan for the child.



Recommendations for rehabilitation:

Curing gymnastics and massage.



Consultation:

The consultation of a child neurolog.



NB! The child’s living condition, her home, is not safe for her due to the parents who do not understand their child’s condition
and do not see their own fault and responsibility in the developing of the causes that led to the illness. The child was left
without medical supervision for a year. The child protection officers should consider placing the child to a guardianship
establishment.