RH case study Flashcards
Why may R be deteriorating at night?
Muscles may be too weak to keep the airways open at night , leading to a condition called obstructive sleep apnea - This could be linked to the CPAP suggestion but this is dependent on ceilings of care and not indicated currently
What is the meaning of de novo?
De novo means ‘of new’ , in latin meaning ‘from the beginning’ , in this case being a genetic mutation seen in one family member for the first time.
What is the significance of the DNM1L gene?
Many of the cause of mitochondrial disease is still unknown but in Rs case-
DNM1L encodes dynamin-related protein 1 (DRP1/DLP1), a key component of the mitochondrial fission machinery that is essential for proper functioning of the brain.
DNM1L presented in the first year of life with severe encephalopathy ,epilepsy and developmental delay
What is Mitochondrial disease?
Mitochondrial disease, refers to a group of disorders that affect the mitochondria.
The Mitochondria is an organelle responsible for the chemical generation of energy in the form of ATP to power cells. Important in organs that require more energy e.g the heart , brain ,lungs etc.
The location of the gene mutation has direct correlation to the symptoms experiences.
Every 30 minutes a child is born who will develop mitochondrial disease by the age of 10
What may neurological deterioration of his condition mean?
R’s chronic symptoms can remain stable and well managed majority of the time, however in times of stress and when exposed to infection he may experience acute exacerbation of his symptoms, resulting in overall deterioration of his disease. Overtime these exacerbation may become more frequent and may present with worsening symptoms.
Why is mitochondrial disease hard to diagnose? and how is it diagnose?
Mitochondrial Disease is very rare. With symptoms of the disease beginning at any age and affecting any body system in ways that are not clearly linked.Many symptoms are common to other diseases and these need to be ruled out before the diagnosis of Mitochondrial Disease is arrived at.
- Lactic Acidosis- decreased ATP
- Metabolic evaluation -dysfunction in electron transport chain
- Cerebrospinal fluid analysis- Cell count
- Spectroscopy - abnormal accumulation of lactate
- Muscle pathology via biopsy
- Brain imaging - calcifications and lesions associated with encephalopathy
Some other symptoms of mitochondrial disease-
Poor growth Loss of muscle coordination, muscle weakness Visual and/or hearing problems Heart, liver or kidney disease Gastrointestinal disorders Diabetes Increased risk of infection Dysfunction of the autonomic nervous system
Types of chest infection and their stages-
Bronchitis is an infection of the main airways of the lungs (bronchi), causing them to become irritated and inflamed
Pneumonia- Pneumonia is an infection in one or both lungs that is caused by bacteria, viruses, or other less-common types of infections.
Stage 1- Congestion -During the congestion phase, the lungs become very heavy and congested due to infectious fluid that has accumulated in the air sacs.
Stage 2- Red hepitization -Red blood cells and immune cells that enter the fluid-filled lungs to combat the infection give the lungs a red appearance.
Stage 3- Gray Hepitization -Red blood cells will disintegrate during this stage, giving the lungs a greyish colour
Stage 4- Resolution-During the resolution phase, begin to feel better as immune cells rid their bodies of infection. However, they may develop a productive cough that helps to remove fluid from the lungs.
Signs of respiratory distress in children
1- Increased RR 2- Increased HR 3-Colour changes 4-Grunting 5-Nasal flaring 6-Stridor 7-Recession 8-Wheezing
What is Dystonia?
Dystonia is a movement disorder in which your muscles contract involuntarily, causing repetitive or twisting movements
How can Dystonia result in breathing difficulties?
Dystonia’s like laryngeal dystonia or a diaphragmatic dystonia can include breathing issues.These muscles contracting excessively can result in breathing difficulties.
Dystonia can cause stiffness in the muscles between the ribs and can cause a sensation or shortness of breath
Finally, when a person with dystonia has involvement of the spine, twisting of the torso can limit how much the lungs can expand when breathing, and this can potentially cause shortness of breath.- Cervical Dystonia too
Gasping, stridor, interrupted flow of speech, paradoxical breathing, dyspnea on exertion, and other respiratory symptoms reported by patients suggest involvement of the upper airways, chest, and diaphragm.
What is Tachypnea and Bradypnea?
Tachypnea -Rapid , shallow breathing - R increased WOB to get more oxygen into his lungs. Can however lead to a decrease in oxygen supply and carbon dioxide retention( Hypercapnia)
Bradypnea-Slow , shallow breathing
What are the indications for spot Sat checks and what issues can they bring?
When R is in respiratory distress the indication for O2 and sats monitoring is clear , however this constant checking can bring forth a negative habit of constantly checking. This can further increase parent anxiety , when R is stable and not undergoing any physio treatment weaning of the sats monitor and focuses of other observatory signs can be positive
What is Epilepsy and what does R experience?
Epilepsy is a common condition that affects the brain and causes frequent seizures. Seizures are bursts of electrical activity in the brain that temporarily affect how it works.
Tonic/Clonic Seizures-Tonic-clonic seizures can have a generalised onset, meaning they affect both sides of the brain from the start. When this happens, the seizure is called a generalised tonic-clonic or bilateral convulsive seizure.
During the tonic phase:
You lose consciousness, so you won’t be aware of what’s happening
All your muscles go stiff, and if you’re standing you fall to the floor
Air might push past your voice box, which can make a sound like you’re crying out
You may bite down on your tongue or inside your mouth
During the clonic phase:
Your limbs jerk quickly and rhythmically
You may lose control of your bladder and/or bowels
Your breathing may be affected, causing a blue tinge around your mouth
Most cases of epilepsy associated with mitochondrial disorders are drug-resistant, meaning that complete seizure control is not achieved. There is no single best medication and the choice of agent is typically based on the epilepsy type.
Global developmental delay in R
The term ‘developmental delay’ or ‘global development delay’ is used when a child takes longer to reach certain development milestones than other children their age.
In R this involves Motor, Speech and cognition of decreasing level of involvement
Initial decline starting from the first onset of symptoms, followed by an accelerated deteriorating phase until diagnosis. During the initial period from diagnosis to the first post-diagnostic evaluation (~1 year), this was followed by an accelerated period of decline for ~2 years. Finally, ~3 years after the diagnosis, the decline reached a stagnant phase (Eom et al , 2017)
