Mar 20, 2023
The participant was born at 40 weeks gestation. She was transferred to the NICU due to significant weight loss and mild elevation of sodium levels. She was discharged from the NICU two days later with no follow-up required. She said her first word at 8 months and began walking before age 1.
At the age of 2, the participant began experiencing episodes of leg pain that would bring her to tears and temporarily prevent her from walking. At the age of 5, she was diagnosed with migraines. The migraines presented as headaches and vomiting. Through age 9 her development was typical and she met all developmental milestones. She was athletic, academically advanced, and a social butterfly.
At the age of 9, she began experiencing a recurrent cough. Despite not experiencing a sore throat she repeatedly tested positive for strep throat. She was treated for strep throat. After those infections, her handwriting and speech began changing. Her thoughts became obsessive. She experienced episodes of not being aware or responsive to her surroundings. She experienced abnormal movements. She had severe tiredness that caused her to sleep 18-20 hours daily. Additionally, she had severe anxiety, behavioral changes, and hallucinations. She was treated with Ativan but it caused her symptoms to worsen.
The participant has seen multiple specialists (psychologist, general neurology, neuro-immune neurology, primary CNS vasculitis neurologist, and metabolic/mitochondrial disorder geneticist) for her migraines and cognitive changes.
The abnormal movements progressed to periods of non-responsiveness. These symptoms presented as seizure-like activity and responded to the medication, Benzodiazepine. During an EEG her eyes rolled back, and she had a seizure-like appearance, but no seizures were captured on the EEG. Her mother notes that her seizure-like episodes responded to high doses of Benadryl and were induced by light. Her seizure-like episodes were followed by her having receptive language but no expressive language. Her seizure-like activity was described as involuntary muscle contractions (dystonic) and lack of movement and communication (catatonic). Depakote and leucovorin were started, which helped resolve some of her symptoms.
In this course of illness, she lost her ability to swallow. She experienced losing all her hair (alopecia totalis). She lost her hair twice. Her balanced worsened and she began to walk on her toes and her feet turned outward in a “V” shape. Despite physical therapy, her muscles became too tight to walk. At this time weakening and shrinking of her muscle (severe muscle wasting) was noted.
At the age of 11, she was started on Rituximab, Cellcept, and intravenous immunoglobulin (IVIG). This treatment resolved her hallucinations except when she was feeling sick. She participated in an inpatient rehabilitation program and regained the ability to walk. Despite clear gains with her treatment she lost 30 pounds and continued experiencing muscle contractions.
She developed uncontrolled eye movements (nystagmus) so severe that she could not lift her head without vomiting. At that time, she had a slower heart rate (bradycardia). Additionally, her liver and thyroid were not working properly. In response, a GJ tube was placed. She experienced gains in cognition, educational abilities, balance, and coordination. She also experienced fewer abnormal movements. This led to a diagnosis of unspecified mitochondrial dysfunction.
Presently she experiences changes to her muscles (abnormal muscle tone, dystonia, muscle wasting, pain in lower extremities, and decreased mobility). At times her muscles become so tight that she is unable to walk. In these instances, her ammonia and often lactic acid levels are elevated. She experiences neurobehavioral symptoms, autonomic nervous system dysfunction (dysautonomia), fatigue, and recurrent rashes and skin lesions. These symptoms are often seen following an increase in physical activity, exposure to extreme temperatures, or illness. At times her speech becomes slow and experiences muscle jerking (myoclonic jerking). She experiences uncontrolled eye movements (nystagmus). She also experiences unexplained episodes of vomiting, abdominal pain, and weight loss. Increased rest, reduction in protein intake, increased sugar consumption, and 10% Dextrose fluids help improve her symptoms.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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.