background participants

Participant 037


hypotonia, seizures
On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

 

Male, age 4 with low muscle tone (hypotonia), seizures (epilepsy), and developmental delay

Date of Report

Oct 03, 2017

Description

After the patient was born, he had trouble breathing and was admitted to the NICU.  He also had an abnormal neck position (torticollis) and difficulty eating (failure to thrive). At 6 months, he was not meeting his developmental milestones. In particular, his motor skills were behind.

When the patient was 1 year old, he had his first seizure during a fever. Over the next few weeks, he continued to have seizures with and without fevers. After these episodes, he would regress in terms of his milestones. His verbal skills would decline and he would have an unsteady walk (gait). MRI imaging of his brain and spine at this time were both normal. During a physical exam, he was found to have low muscle tone (hypotonia) and joints that move beyond normal range (hypermobility).

Currently the patient’s seizures are controlled with medication and he is at a 2-2.5 year level in terms of his milestones.

Symptoms / Signs
  • Developmental delay
  • Regression
  • Seizures (generalized tonic-clonic and myoclonic)
  • Low muscle tone (hypotonia)
  • Prominent forehead (relative macrocephaly)
  • Unsteady walk (unsteady gait)
  • Joints move beyond normal range (hypermobility)
Current Treatments
  • Coenzyme Q10- suspected mitochondrial condition
  • Keppra, diazepam- seizures
  • Levocarntitine, whey protein- low carnitine levels
Prior Treatments
  • Rocephin- high white blood cell count
  • Phenobarbital- seizures
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Fragile X syndrome
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Mitochondrial condition
  • Mucopolysaccharidoses
Other Photographs
Genetic Variants of Interest
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.