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Need urgent help and advice

Sandeep SandeepSanghvi at usa.com
Sun Dec 19 03:54:56 EST 1999

Any help for the below given information would be appreciated.Anyone having
some info. and advice about the problem given below...
Please mail to Amrit at ppindia.com

Following is his observation, investigation and diagnosis:

                                 "   SUMMARY OF SHRUTI VORA 4 yr OLD GIRL.
Shruti Vora is a 4 1/2 year old girl born of a nonconsanguineous marriage.
She was born at full term, by forceps assisted delivery with normal birth
weight requiring no resuscitation.  She had a normal postnatal period. The
prenatal history is not significant.

Shruti had delayed motor milestone ie. started walking at 2 years of age.
Her mental development was normal. At age of 3 years, Shruti had a history
suggestive of malabsorption.  She was investigated for this but all the
reports were normal.  Her malabsorption gradually improved over 3 months.
She had recurrent episodes of unexplained fever every four months which were
treated as a respiratory infections.

In June'99 (ie. at the age of 4 years) Shruti gradually regressed in her
motor milestones and stopped walking alone.  She even regressed in
speech-her verbal output decreased.  There was no dementia.  On general
examination she had sighing respiration with short pauses.  She had
cerebellar speech and upward gaze palsy and areflexia.  She had no obvious
visual/hearing or cognitive impairment.


Her first CT scan brain was normal.  CSF - Routine and microscopy - (N).
CSF lgG was increased (6.02) Lactate -41.  ABG --HCO3-16. Bld lyme Ab--5.0
U/ml--later reported Neg.  CSF lyme Ab-Neg.  SSEP--borderline (N).
EMG--diffuse predominantly proximal peripheral neuropathy which is
demyelinating in nature.

S pyruate - 0.7 mg%.  CSF - PCR for TB - Neg.  ESR - (N).  Vit E levels (N).
S Apolipoprotein B level 0.87 g/l (N). Lipid profile - (N). VLCFA levels
(N). Vit B12 levels low.

MRI brain -- Foci of abnormal signals are seen involving the lentiform
nuclei, dentate nuclei, cerebral peduncles, pons, medulla and region of
posterior 3rd ventricle, probably the fomiceal tracts.  These appear
abnormally hyperintense on T2 weighted images, most of these lesions being
new and the rest appear to have increased since the last study.  Abnormal
enhancement of cord at T1 level ventricles (N).

megavitamin-therapy, without much improvement.

Recently she was admitted 4 days ago, when she complained of not feeling
well after which she vomited 3 times and suddenly collapsed.  She was
admitted with irregular respiration with long apneic pauses and
nonrecordable BP with extremely poor peripheral pulses.  External ocular
movements were absent and response to cold calorimetrics was feeble.  She
was ventilated and given large amounts of resuscitative fluids but required
epinephrine to keep her BP stable.  She still requires active vasopressor
support most of the time, ventilator dependent and has bouts of severe
sweating.  She also has temperature swings from 106 F to 96 F.  She needs
aggressive support to keep her vital signs stable with this autonomic
dysfunction.  Megavitamine therapy has been restarted.  At present child
neurologically she is conscious, obeys commands, open eyes, moves eyes in
all directions.  Gag reflex is minimally present.  She is hypotonic with
depressed jerks.  She still does not breathe independently and continues to
have vasomotor instability."

Please mail to Amrit at ppindia.com

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