Leigh's Disease
Overview
Hey, did you know about Leigh's disease? It's a condition that affects a child's nervous system. At first, babies with it seem fine, but later on, their cells start to break down, which can cause problems like trouble eating, seizures, and constant crying. It usually shows up when a child is between 3 months and 2 years old.
The cause of Leigh's disease is a faulty gene that triggers mitochondrial disease. Unfortunately, there's no cure for it. It's really tough because it's fatal, and most children don't live past the age of 3. Sometimes it can appear during adolescence or adulthood, but that's pretty rare.
Symptoms
Symptoms of this condition encompass:
-Difficulty swallowing (dysphagia), feeding issues, and poor sucking.
-Diarrhea and vomiting episodes.
Hypotonia is characterized by low muscle tone.
Additional signs may include:
-Irritability and persistent crying.
-Poor head control and reflexes.
Causes & Risks
When both parents give the same messed-up gene to their kid, it results in an autosomal recessive disorder. These parents carry the wonky gene but don't actually have the disease. On the other hand, an X-linked recessive genetic disorder occurs when there is a gene change on an X chromosome. It can come from either the biological mom or dad. If the mom carries the gene change on one of her X chromosomes, there's a 1 in 4 chance that her child will inherit it. If a boy inherits it, he'll develop Leigh syndrome; a girl won't, but she could pass it to her future kids. A dad can't pass it to his son but can pass it to his daughter.
Test & Diagnosis
The tests and diagnosis include:
-Blood tests are done to look for lactic acidosis and enzyme markers that might show Leigh syndrome.
-Imaging scans, like MRIs, help spot damaged brain tissue areas (lesions).
-A genetic test (blood test) determines the specific gene change causing this condition.
Treatment
Treatment for this condition typically involves the use of medications - such as citric acid (sodium citrate) or sodium bicarbonate - to address lactic acidosis.
Additionally, thiamine (vitamin B1) injections may be administered to slow down the disease's progression. For children with specific enzyme deficiencies, specialized diets - such as high-fat, low-carbohydrate diets - may be implemented.
In cases where eating is difficult, some children might require enteral nutrition (tube feeding) to meet their nutritional needs.
Living With
Living with Leigh syndrome can be challenging due to developmental hiccups that may cause a slowdown or regression. It can also impact daily functions such as breathing and eating, and sometimes, seizures may add to the difficulties. Growing up may take longer or follow a different path than usual. Coping with Leigh syndrome requires the support of exceptional doctors, therapies, and a caring community. It involves addressing all aspects of the condition to improve the quality of life for those affected by it.
Complications
-Breathing Issues: It can get tricky to catch your breath or even lead to trouble breathing because the brainstem, which is in charge of important stuff like breathing, can get involved.
-Trouble Moving: Kids dealing with Leigh's disease often deal with weak muscles, muscles moving without control (called dystonia), and struggle with staying coordinated and balanced.
-Seizures: Those with Leigh's disease often have seizures because the brain's electrical activity goes haywire.
-Eyes and Ears: Some might face vision problems or even go blind and have difficulty hearing as Leigh's disease continues.
