She is almost a 7-1/2-year-old girl, who was apparently healthy until January 2019 when she presented with a left-sided focal seizure mostly involving the face and eyes, eye deviation and twitching of the eye, lasted for a few minutes with a loss of consciousness.  The basic investigations were all normal including lumbar puncture, CBC, basic chemistry, and radiological investigations like CT of the brain. 

A second episode was in August of the same year, 2019, with same kind of seizures, which was not precipitated by any fever or any sick contacts.  More or less, the investigations were done the same as in above, and she was discharged within a short interval. 

The third episode was in November.  At this time, she was represented with focal seizures however was more frequent seizures, EEG was done, which was normal.  MRI of brain was done, which was fairly normal( see the labs summary) attached other than some very non-specific changes and some basal ganglia and thalamic region changes. 

In December she presented with multiple episodes and she had a prolonged hospitalization at this point from December to almost until February.  This episode was complicated by sudden and dramatic autonomic presentation with low heart rate and hypothermia. For bradycardia Cardiology was involved; got EKG and rhythm was normal and Holter monitor was done which was normal and the echo was normal as well.  She also presented with hypothermia at this point.  There was a brief discharge period during this period, for which mom was taken baby home and she was readmitted within short periods with a very  rough presentation like very hypothermia and also and ver low HR-in 40s...  They almost called code blue when she came to Rainbow Hospital.  – she was almost coded however luckily not ended up intubating or CPR. Temperature and heart rate came back on its own normally.  There was also the history of hallucination during this hospitalization, for which she was given haloperidol and she had a very bad side effect of extrapyramidal side effects of haloperidol.  During this admission, extensive investigations were done which include complete CSF analysis.  An autoimmune workup was also done, which was negative. ,repeatedMRI also, and blood gas was done, which was kind of a little alkalotic, but there was nothing major etiology contributed to that.  The liver function test was done, which was normal.  They also did a metabolic panel for checking all the amino acids and urine amino acids, which came back as normal.  More or less, all the investigations were kind of shown to be normal.  The Exosome sequence which was done and I just got the report 3 days ago which showed  SCN-9a gene defect( see attached Labs summary for all the admissions. The SCN 9 a gene issues does have a seizure and autonomic issues etc.. however the Neurologist over at Rainbow Hyderabad is not yet convinced 100% it is because of that.

 Current baseline status is as follows:

Current Conscious Level:

1.  Currently her conscious level, she was able to recognize her mother but sometimes she is overly scared for a little issue like a bug or anything she sees on the wall and also she is getting upset if you tell any very small little things, which she was not upset before.

2.  She is kind of overly sleeping or not at all sleeping; she is sleeping long periods like 10 hours or 12 hours; if she is not sleeping, she is not sleeping for 2 or 3 days.

FEEDINGS:

Mostly she was getting NG feeds during the hospital stay, but now she started feeding in soft foods. 

MEDICATION HISTORY:

Other than antiepileptic drugs, she was also given prednisolone.   These show some kind of improvement in her seizure status and also her conscious level status.  However, they have also given Ritumaxoma/Immunogloblisn x2 one at 100 mg/kg during last admission and 200 mg/kg for 3 days during just before discharge 2 or 3 days ago around like 24th to 25th.  Per parents, they could not appreciate any difference in clinical status in terms of hallucinations or behavioral changes or sleep with _Ritumaxomab / immunoglobulin.