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 3^rd %, length 25^th % , head 25^th%

- 14 months standing, cruising, says mama, and head is 10^th %
- 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