Diagnoses & Comments
Principal Final Diagnosis:
1. Failure to thrive
2. Septo-Optic Dysplasia
3. Absence of Corpus callosum
4. Optic Nerve Dysplasia
Anthony Rodriguez is a 7 month old term infant, admitted on 01/04/12
with 6 months of poor feeding, excessive vomiting, failure to thrive,
microcephaly, and global developmental delay; found to have septo-optic
dysplasia with absent corpus callosum on MRI and impaired gastric
Anthony was admitted on 01/04/12 and
found to be <3rd percentile for weight and head circumference. At the
time of admission, he was being maintained entirely on donated breast
milk. On hospital day #3 (HD#3) due to concerns for weak suck and
general hypotonia, modified barium swallow study was performed along
with upper GI study, which showed no aspiration events or malrotaion of
the gut, but did demonstrate -50% air swallow and greatly delayed
gastric emptying. NG Tube was discussed with the parents, who elected
to try medical therapies first. Erythromycin was started at 10 mg/kg
every 8 hours to promote gastric motility.
Nutrition consult was also
obtained, and fortified feeds with breast milk and Similac Sensitive
formula for 24 cal/ounce was recommended. Feeding schedule for 3 oz
every 2 hours was recommended and implanted on HD#3. Parents implemented
this schedule and demonstrated understanding of his nutritional needs. Yecenia was seen by lactation consultant to assist in effort to
transition from donated breast milk to her breast milk.
not demonstrate the excessive vomiting on the fortified breast milk
that the parents had previously reported with formula. He demonstrated
appropriate weight gain during the hospitalization from 5.74 kg on admit
to 6.1kg on discharge. He went home with the above feeding plan, and
instructions for close follow up with PCP. At the time of discharge,
Zinc and 25 OH Vitamin D levels were pending.
Anthony was admitted with concern for general hypotonia, microcephaly,
and failure to meet developmental milestones. He demonstrated signs of
abnormal brain development on exam, such as persistent cortical
thumbing. MRI was obtained under sedation on HD#2 and showed septo-optic
Dysplasia with absence of the corpus callosum and dysplasia of
bilateral optic nerves and the optic chiasm. Variability in expression
of this disorder was discussed with the family, as was the need for
extra developmental support to assist in meeting developmental
milestones as normally as possible. Plan was made for Anthony to follow
up in CDRC Outreach clinic in Medford.
Anthony’s parents expressed ongoing concerns with Anthony’s ability to
track faces or objects visually, and on exam he was not noted to track
faces or objects with his eyes. After the MRI showed septo-optic
dysplasia, ophthalmology was consulted and performed bedside eye exam
which confirmed hypoplasia of bilateral optic nerves. It was their
opinion that he did have light response and occasionally did appear to
focus on objects. As it is difficult to truly determine visual acuity in
an infant of his age, follow up in Casey eye Center was recommended for
3 months from discharge. Parents were instructed on maintaining good
visual stimulation with toys and faces in the interim.
After the diagnosis of septo-optic dysplasia was made, endocrine
consult was placed as many children with this diagnosis have associated
hormonal deficiencies. TSH, cortical and Cortrostym test, Free T4, and
serum and urine osmolality were checked and were normal. Serum
electrolytes were also checked and were normal. At the time of
discharge, growth hormone studies were pending.
Anthony has not received any of the usual childhood vaccinations to
date due to parents preference. This was not discussed in great length
during hospitalization. He will require follow up in regards to the need
for immunization in future PCP visits.
FOLLOW UP PLAN
Follow up with PCP Dr. Cherry in Klamath Falls in 2-3 Days.
Follow up with DCRC Feeding Clinic in Medford in 1 month: February 16, 2012
Follow up with Casey eye in 3 months: April 20, 2012