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 Startle Disease (Pediatric Neurology)

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Subject: Medical Advice 

To: doctorsearch@yahoo.com 
 

Please review the attached report from King Faisal Specialist Hospital and Research Center @ Saudi Arabia, which reports my son's health history, and
advice if you can help to improve his case.

Thanks,
N, A.
Fax #: +966-
E-Mail:abdullah
 

6-year-old Saudi male followed at King Faisal Specialist Hospital & Research Center because of hypertonia, developmental delay due to the hyperekplexia (Startle Disease).

History:

He was a product of a full term normal pregnancy, labor and delivery, except that he was delivered by cesarean section due to tera pelvic disproportion . birth weight was 4.5 kg and Apgar scares were 7 at one minute, 9 at five minutes, shortly after birth he developed cyanosis of undetermined etiology. He evidently did well until the first year of life when he demonstrated developmental delay particularly with motor & language skills . after one year he became weaker & clearly abnormal 

Thereafter, with evidence of plastic quadriparesis. Outside CT scan & MRI showed frontal temporal atrophy , thought to be secondary to nypoxia, he has been or speech therapy, physiotherapy & has improved in his spasticity.

The diagnosis of his hyperekplexia was demonstrated when seen by pediatric neurology, May 1998. He was begun on clonazepam 0.2 mg t.i.d. with decreased spasticity and diminution of pathological startle response.

FAMILY HISTORY
He is one of five siblings. The others all in good health. The parents are not consanguineous.

PHYSICAL EXAMINATION
On examination he has shown height and weight to be at or below 2 standard deviations from the mear, On head circumference to be at the 50th percentile for age. There is diffuse increased tone , contractures and hyperreflexia consistent with plastic quadriparesis. There is a modified response on glabellar tap but this has decreased remarkably since he has been on Benzodiazepine.

INVESTIGATIONS
A number of neurophysiological studies have been done including electroencephalogram and blink reflex as well as multichannel electromyogram . the electroencephalogram was interpreted as showing diffuse cerebral dysfunction and paroxymal activity, consisting of spontaneous pursts of high voltage sharp waves and spike and wave discharges that did not correlate with body jerks. Repeated body jerks were noted during the recording with no obvious electroencephalographic correlation . the noted physiologic studies demonstrated normal blink reflex induced by light and left supracipital nerve electrical stimulation as well as by tapping the nose . multichannel electromyogram studies showed consistent responses from the orbicularis ocull muscle, but less consistent from the sternocliedomastoid and seltoid. The latency of the oricularis oculi muscle was always shorter than the sternocliedomastoid and deltoid muscles.

DNA has been obtained and stored for possible identification of GLA-RI glycine receptor gene on chromosome 5 identified in patients elsewhere 

He has scheduled to have a brain MRI 

SIGNATURE -------------------

Enrique D. Chaves – Carbalio

Head of Pediatric Neorology

Dept of Neurosciences 

D: 31 August 1999 

T: 26 September 1999 / NJB

Revised: 26 September 1999 / NJB

C: Department of Neurosciences
 

 


 
 
 
 
 

 

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