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Signs & Symptoms
- Prenatal Findings
- - Normal pregnancy
- Eyes
- - 3 months eye movement was limited (Horizontal
nystagmus)
-
- Development & Growth
- - 4 months smiled
- 6 months rolling
- - 10 months combat crawl, able to bring hands to
midline, sitting, not bearing wt. on legs. Wt at
3rd %, length 25th % , head
25th%
- - 14 months standing, cruising, says mama, and
head is 10th %
- 21 months walking
-
- Feeding
- - Feeding problems at birth (would not
breast feed)
- - Feeding problems persisted due to sensory
issues
- Laboratory Test and
Findings
- - Tensilon test, had labor breathing and
increased ptosis.
- Evaluated at UC Davis For Congenital Myasthenic
Syndrome by an EMG.
- Brain MRI, atrophy in vermis of cerebellum,
decreased size of corpus callosum white matter as
well as decreased size of brainstem and
cerebellum. Atrophy in the internal capsule was
suspected. No abnormal signal.
- 30 months Evaluated at Scottish Rite in Atlanta
for Mitochondrial disease. (Muscle Biopsy, spinal
fluid, and skin biopsy) waiting for results.
- Suggested looking at congenital cranial
dysinnervation syndromes, Mobius syndrome, and
Congenital myogenic ptosis.
Contact: Doug dad to
Trey at
dhalloran@knifesource.com
Any
troubles with e-mails send to
swanusa@undiagnosed-usa.org
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