Re: Retinal hemorrhages

["William Scott Scherk" <wss@xxxxxxxxxxxx>]

If this is a case of SCAD, the incidence seems to be
extremely rare in infancy, but is associated with
seizures. Have you noted muscle weakness, a failure to
thrive, or a developmental delay?

Here are a few references to SCAD and to retinal
hemorrhage (the first a clinical synopsis from OMIM at the
National Center for Biotechnology Information):

ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?20147
0.cs
[see also
http://www.childrens-mercy.org/mso/dept/docu/other/view.as
p?dept=19&docu=177 ]

Amendt, B. A.; Greene, C.; Sweetman, L.; Cloherty, J.;
Shih, V.; Moon, A.; Teel, L.; Rhead, W. J.  Short-chain
acyl-coenzyme A dehydrogenase deficiency: clinical and
biochemical studies in two patients. The Journal of
Clinical Investigation 1987: 79: 1303-1309,.

Tein, I,; Haslam, R. H. A.; Rhead, W. J.; Bennett, M. J.;
Becker, L. E.; Vockley, J.
Short-chain acyl-CoA dehydrogenase deficiency: a cause of
ophthalmoplegia and multicore myopathy. Neurology 1999:
52: 366-372.

Krugman SD, Zorc JJ, Walker AR. Hyponatremic seizures in
infancy: association with retinal hemorrhages and physical
child abuse? Pediatric Emergency Care  2000
Dec;16(6):432-4

Tyagi AK, Scotcher S, Kozeis N, Willshaw HE. Can
convulsions alone cause retinal haemorrhages in infants?
The British journal of ophthalmology 1998 Jun;82(6):659-60

O'Donohoe JM. Retinal haemorrhages and convulsions.
Archives of Disease in Childhood  1997 May;76(5):466

Sandramouli S, Robinson R, Tsaloumas M, Willshaw HE.
Retinal haemorrhages and convulsions. Archives of Disease
in Childhood  1997 May;76(5):449-51

Ober RR. Hemorrhagic retinopathy in infancy: a
clinicopathologic report. Journal of pediatric
ophthalmology and strabismus 1980 Jan-Feb;17(1):17-20


You might wish to contact one of North America's foremost
experts in infant ophthamology, with regard to the
retinopathy:

Alex V. Levin, M.D., FRCSC, Associate Professor,
Departments of Ophthamology, Pediatrics & Genetics,
Faculty of Medicine, U of T ; Staff Ophthamologist, The
Hospital for Sick Children.

email: avlevin@sickkids.on.ca
phone: 416.813.6524
Fax: 416.813.6261

You might also wish to contact Majed Dasouki, M.D.,
Pediatric Geneticist at Children's Mercy, with regard to
SCAD:
816.234.3290

> I am looking for reports about or studies of infants
with retinal
> hemorrhages.  I have a 3mo old infant who presented to
another ER with
> encephalopathy, complex partial status epilepticus and
retinal hemorrhages
> bilaterally.  He had a metabolic acidosis that persisted
after his
> encephalopathy cleared.  He appears to have short-chain
acyl-CoA
> dehydrogenase (SCAD) deficiency based on urine organic
acid screen.  Have
> there been reports of this disorder or others similar in
nature causing
> retinal hemorrhages without subdurals or other evidence
of   trauma?
> Jennifer Brumm, M.D.   brumm.jennifer@mayo.edu
>