Differential Diagnosis
The patient's complex presentation of symptoms, including ADHD, restless legs, elevated liver enzymes, irregular rapid heart rate, inflammation, nocturnal low-grade fevers, pruritus, progressively worsening vision, history of a seizure, gastrointestinal symptoms, and improvement after cutting out wheat, suggests a multifaceted condition. Here's a categorized differential diagnosis:
Single Most Likely Diagnosis
- Celiac Disease: This autoimmune disorder is triggered by gluten (found in wheat) and can cause a wide range of symptoms, including gastrointestinal issues (bloating, diarrhea, vomiting, abdominal pain), malabsorption leading to various deficiencies, and even neurological symptoms like ADHD, seizures, and peripheral neuropathy (potentially causing restless legs). The improvement after cutting out wheat strongly supports this diagnosis. Elevated liver enzymes and inflammation can also be associated with celiac disease.
Other Likely Diagnoses
- Non-Celiac Gluten Sensitivity (NCGS): Similar to celiac disease, NCGS involves adverse reactions to gluten, leading to symptoms like abdominal pain, diarrhea, fatigue, and neurological symptoms. However, it does not cause the same level of immune system activation or intestinal damage as celiac disease.
- Inflammatory Bowel Disease (IBD): Conditions like Crohn's disease and ulcerative colitis can cause gastrointestinal symptoms, weight loss, and extraintestinal manifestations such as joint inflammation and eye problems. However, the direct link to gluten and the broad spectrum of symptoms might make this less likely.
- Autoimmune Hepatitis: This condition involves inflammation of the liver due to an autoimmune response. It can cause elevated liver enzymes and might be associated with other autoimmune conditions, but the gastrointestinal and neurological symptoms would need another explanation.
Do Not Miss Diagnoses
- Lymphoma: Certain types of lymphoma, particularly those associated with celiac disease (e.g., enteropathy-type T-cell lymphoma), can present with similar gastrointestinal symptoms, weight loss, and systemic symptoms like fever and night sweats. The history of seizure and worsening vision could indicate central nervous system involvement.
- Neurodegenerative Disorders with Systemic Involvement: Rare conditions like multiple system atrophy can present with a combination of neurological symptoms (including autonomic dysfunction leading to rapid heart rate), gastrointestinal issues, and other systemic symptoms.
- Systemic Lupus Erythematosus (SLE): This autoimmune disease can affect multiple organ systems, causing a wide range of symptoms including joint inflammation, skin rashes, kidney issues, neurological symptoms, and gastrointestinal problems. The presence of nocturnal low-grade fevers and pruritus could be indicative of SLE.
Rare Diagnoses
- Whipple's Disease: A rare, systemic bacterial infection that can cause malabsorption, weight loss, joint pain, and neurological symptoms. The diagnosis is often delayed due to its rarity and nonspecific symptoms.
- Ehlers-Danlos Syndrome: A group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. While it primarily causes skin hyperextensibility, joint hypermobility, and tissue fragility, some forms can lead to gastrointestinal and neurological symptoms.
- Mitochondrial Disorders: Conditions like MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) can cause a variety of symptoms including seizures, vision problems, gastrointestinal issues, and systemic symptoms due to mitochondrial dysfunction.