Gender and year of birth
Male, 2018
Description
Leonardo has severe neurological issues with hypertonia in arm and legs, hypotonia in the trunk, and aspirates. He has global developmental delays and cannot sit, roll, walk, talk etc. He wears hand and foot orthoses and uses glasses He has had one occurrence of seizures He has microcephaly and complete agenesis of the corpus callosum.
Symptoms / Signs
- Microcephaly
- Complete agenesis of the corpus callosum
- Mild third ventriculomegaly
- Feeding difficulties (oropharyngeal phase dysphagia)
- Reflux
- Phlegm build-up
- Drooling
- Global developmental delays
- Hypertonia
- Hypotonia
- Deficient upgaze
- Seizures
Current Treatments
- Physical, feeding and occupational therapies
- PEP-mask
- G-tube
- Baclofen
- Melatonin
- Lacrofarm
- Junior Nexium
- Ergenyl
- Buccolam (in case of seizure, never been used)
Prior Treatments
- Ketogenic diet
Considered treatments
- Additional muscle relaxers
Previously Considered Diagnoses
- PDCD
- VARS 2 (Leonardo, his father and his sister has mutation, this has however been ruled out after further testing - VARS2 deletion/duplication analysis negative and targeted long-read sequencing of VARS2 on a research basis negative.)
- Metabolic disease
- Mitochondrial disease
Genetic Variants of Interest
- VARS 2 (Leonardo, his father and his sister has mutation, this has however been ruled out after further testing)
Evaluated at
Seattle Children's Hospital in cooperation with University of Washington Medical School
Siblings, age & gender
Sister 5 years old
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Leonardo is a very social boy, with a wonderful laughter. Leonardo loves to play, be in the water, be in his swing, dance (assisted), try foods, walk (in his walker), attempt to crawl etc. He can do a couple of signs and a few sounds.
