He was born in 2011 and at first he seemed healthy. But after 1.5 days he suddenly became unconscious and very ill. His sodium levels were not normal. He got better and the doctors thought again that he was healthy. After a few months,he showed weakness in the muscles and did not follow his mothers gaze and didnt grasp for things.
When he was 6 months, his brain was x-rayed and the white matter was found to be underdeveloped and he had a lot of epilepsy.
Now he is very weak and has no speech. He has several major disabilities.b
Symptoms / Signs
- Delayed motor- and cognitive development and weak muscle tone.
- Feed by tube
- Enlarged heart muscle
- bowl-shaped chest, smal fee
- Hearing is ok
- Deep palate, no speech, no volentary movements
- Eye examinations ok, but no brain connection
- Extensive hair growt on the back and the rest of the body.
- Poor and irregular daily rhythm, do not sleep many hours at a time.
- Epilepsy medicines: Keppra, Frisium, Clonidine, Zonepran and when needed: Diazepam, Chloral hydrate, Theralen
- Sodium Chloride and Ventoline / Airomir - inhalation
- Supplemental Sodium Chloride
- Epilepsy Medications: Phenoberbital, Trileptal, Topimax
- Vitamins B12
Previously Considered Diagnoses
- Early suspected Addison's disease, kidney disease.
Genetic Variants of Interest
- MTDNA - a homoplasmic mutation at 11778G> 8. Link to Leber's hereditary optic neuropathy.
- Variant in SYN1.
- Suspicious SPATA 5
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