help with case

[R H]

Dear All

Any ideas for the following case.

A 10 month baby girl. parents are first cousins. She has normal siblings and she is the last of four children.

Pregnancy and birth were normal according to the doctors however the mother says baby did not cry and was blue around the head and shoulders. She also says that when she saw the child properly 3hrs after delivery, both her mother-in-law and her husband commented on why the baby was looking blue!!

She stayed in hopsital for a day and was sent home with mother.

Birth weight 3.1kg

Mother says that the baby appeared normal for the first month (like her other 3 children) but then as time went by felt that her baby wasnnot totally normal. She appeared not to be able to clutch mothers finger etc.

Her voice (when crying) was very 'weak'

At 4 months the parents noticed that she seemed very floppy. She had mild dysmorphic features. Dr said that she had bilateral TEV and dislocated hips.

Her reflexes were present. No fasciculations.

Her electrophysiological studies were normal but CPK was very high.

The Dr reckons there is some presence of a neuromuscular disorder.

She had a CT scan at 7mths and the results showed and I quote "diffuse low density pattern of white matter at both cerebral hemisphere ventricles small base and posterior fossa are normal. No mid line shifting".

The report concluded " Diffuse white matter disease (lenuoccephalitis leumodystrophy)"

She looks like a very delicate long floppy child that needs to be propped up in order to sit, otherwise will fall whichever side there is no support!.

She is very alert but has a fearful look on her face from the approach of starngers. She recognises her 11yr old brother who is her favourite from all the siblings. She gets very excited when she sees/hears his voice. She loves the mobile phone and gets excited from even its appearance.

She has sour sweaty palms, feet and her head sweats + during sleep.

She says mama and baba and her mother says "that she lets you know what she wants by various sounds. It's just she doesn't seem to have any strength in her muscles and can't move. she can hold things but not so tightly.."

She recognises pictures of the family and things that she likes. She will laugh and get excited.

She likes sweets and bread and biscuits, however she eats everything.

I know that she was given Arnica a high dose (don't know what) a month ago. Since then her voice sounds a little louder and her sleep seems good. But apart from that the parents have not really noticed much difference.

Any suggestions???

Warm regards to all.

RH
---------------------------------
Get a bigger mailbox -- choose a size that fits your needs.
[Non-text portions of this message have been removed]