Neurological and Psychiatric Challenges: A Case of Severe Symptoms and Autoimmune Markers
Greetings, A **15-year-old girl** weighing **50 kilograms**, with a height of **168 centimeters**, has recently developed a complex **neurological, psychiatric, and potential autoimmune disorder**, likely similar to dystonia. For the past **four months**, we have sought the underlying cause of her rapidly progressing condition, which has escalated in severity. # Initial Symptoms – Mid-November 2025 The onset of symptoms emerged approximately in **mid-November 2025**. Initially, she experienced a sudden **loss of muscle tone** causing her **head and body to slump downward**, coupled with her **eyes shutting**. These episodes lasted between **one to five seconds**, post which she regained normality. At the onset, she encountered between **one and ten episodes daily**, but this frequency surged markedly in a matter of weeks. By **late December 2025**, her episodes escalated to several occurrences per minute, predominantly in the afternoon hours. At present, she has become **unable to carry out daily activities independently**, presenting with: * persistent tremors * muscle spasms * stiffness in muscles * involuntary tics * episodes of screaming * drastic body jerking and movements # Consciousness During Episodes Initially mistaken as **fainting**, it was soon apparent that she **remains aware** during these episodes; she can **hear conversations** but lacks the ability to **move or reply**. The characteristics of her episodes bore resemblance to **cataplexy**. # First Hospitalization – Cardiology Unit (Late November 2025) In **late November 2025**, the patient was admitted to a **cardiology unit**, where the following evaluations took place: * CT scan of the head * Holter monitor assessment * ECG * EEG, including tests during episodes * various cardiological assessments These investigations yielded no indications of heart disease. Additionally, blood work revealed: * evidence of a past **COVID-19 infection** * signs of previous **Parvovirus B19 infection** * significant deficits in **vitamin D, iron, and magnesium** The healthcare team theorized that her symptoms might relate to: * nutritional deficiencies * prior infections * psychological stress Consequently, she was discharged with recommendations for: * vitamin replenishment * a psychiatric evaluation A month later, while vitamin levels normalized, her symptoms unfortunately continued to deteriorate. # First Psychiatric Evaluation – Early December 2025 During her first **psychiatric consultation** in early December 2025, she received prescriptions for **antidepressants and anti-anxiety agents**, yet no notable improvement was observed after **two to three weeks**. # Second Hospitalization – Misdiagnosis of Psychogenic Seizures (Late December 2025/Early January 2026) In **late December 2025**, she was admitted to another facility. Two EEG procedures were performed: * the first suggested potential **epileptic activity** * the second returned **normal results** Clinicians diagnosed her with **psychogenic non-epileptic seizures (PNES)**. During this admission, her symptoms not only persisted but evolved: * intensified tremors * muscle contractions * arching of the body in a C-shape * clenching of the jaw * erratic movements At times, episodes of muscle tone loss occurred even with her **eyes open**. New psychiatric medications were initiated, but **two weeks** later, no changes were noted. # MRI of the Brain – Early January 2026 In early January 2026, we arranged for a **brain MRI with contrast**, which yielded **normal** findings. # Cerebrospinal Fluid Evaluation – Mid-January 2026 Mid-January 2026 brought about tests on **cerebrospinal fluid and blood samples**. Most outcomes were normal, yet **onconeural antibodies** were identified: * **PNMA2 / Ma2 / Ta: ++** * **Amphiphysin: +** # Hospital Observations During her stay, an intriguing observation occurred: * when left **alone**, her episodes **diminished significantly** * on the **presence of others**, episodes **intensified considerably** # Pediatric Psychiatric Assessment – Late January/Early February 2026 In late January 2026, we consulted a **pediatric psychiatrist** who remarked that he **did not identify classical psychiatric issues**. He postulated the possibility of a **post-infectious or autoimmune neurological reaction**, potentially tied to **COVID-19**. The therapeutic plan included: * **Dexamethasone (Demezon)** – a steroid for a duration of 2 weeks * **Viregyt-K (amantadine)** * analgesics The administration of steroids led to noticeable improvements: * decreased muscle tension * near-complete disappearance of jaw clenching Nevertheless, the episodes involving head and body drooping persisted. # Cancer Investigation – Early February 2026 Given the **onconeural antibodies** detected, further assessments were conducted to rule out **paraneoplastic syndrome**: * ultrasounds of the ovaries and abdomen * assessment of tumor markers in blood All examinations failed to detect any tumors or suspicious abnormalities; however, it is possible that this investigation was **not exhaustive**, and further diagnostics may be warranted. # Post-Steroid Withdrawal Decline – Mid-February 2026 Following the cessation of steroid therapy, her symptoms **reappeared with greater intensity**: * constant muscle tension * intense tremors * episodes of screaming * uncontrollable movements * aggressive body jerking # Current Hospitalization – Late February/Early March 2026 She has been re-hospitalized. A **cerebrospinal fluid test** was redone, this time also evaluating for **anti-NMDAR antibodies**, commonly linked with autoimmune encephalitis, although not universally present. Results yielded: * **anti-NMDAR – negative** * **PNMA2 / Ma2 – now positive (but less strongly: +)**, detected in cerebrospinal fluid rather than blood this time. Additionally, a **CT scan of the head** appeared normal. Clinicians have initiated **intravenous immunoglobulin therapy (IVIG)**. As of **day three of treatment**, regrettably, there have been no signs of improvement. # Inquiry Has anyone encountered a **similar case** or can offer insights into what this condition may entail and potential avenues for treatment? # Related Information? We wish to mention an additional circumstance deemed mostly unlikely by doctors, yet we find it pertinent. In **late September** (approximately **1.5 to 2 months prior to symptom onset**), our cat introduced **fleas** into our home, resulting in several bites on the girl. Her room was later treated with an **insecticide** for fleas and ventilated thoroughly before she reoccupied it. Medical professionals considered the chances of poisoning as slim due to: * the absence of respiratory distress or skin rashes, which typically arise from such exposure * our cats displayed **no symptoms**, although cats are typically more vulnerable to such toxins. Nonetheless, we continue to ponder whether **flea-related diseases or insecticide toxins** may have had any involvement in her condition.
Answers (1)
3/5/2026, 9:11:04 PM
OpenHealth AI
I'm truly sorry to hear about the complicated and challenging situation your daughter is facing. Given the complexity of her symptoms and the investigations she has undergone, it’s clear you've been navigating a difficult course in seeking the right diagnosis and treatment. Here’s a structured response that focuses on key areas for understanding and action.
Main Points
- Potential Autoimmune Reaction: Your daughter's symptoms may indicate an autoimmune process, especially given the identified onconeural antibodies and the improvement with steroids.
- Assessment of Infections and Environmental Factors: The timeline of her symptoms following infections and potential environmental exposures, like flea bites or insecticides, warrants careful consideration but should be approached cautiously.
- Next Steps for Management and Further Evaluation: Continued monitoring and potentially additional testing may help clarify the situation and guide treatment.
Explanation
Your daughter’s complex symptoms resembling dystonia, cataplexy, psychogenic non-epileptic seizures, and significant neurological changes suggest a multifactorial condition, possibly involving autoimmune responses triggered by past infections or environmental factors. The presence of onconeural antibodies, particularly in relation to autoimmune encephalitis, is concerning and indicates that her immune system may be mistakenly attacking her nervous system.
The fact that her symptoms improve with steroids demonstrates a possible inflammatory component that could be managed with immunotherapies, like intravenous immunoglobulin therapy (IVIG) that has been initiated.
Prioritized Next Steps
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Continued Monitoring of Symptoms: Keep a precise daily log of her symptoms, including timings, triggers, and any patterns related to her environment or interactions. This can aid in identifying potential links to her symptoms.
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Follow-Up with Neurologists and Autoimmunity Experts: Consider arranging consultations with specialists in neuroimmunology or pediatric neurology who focus on autoimmune neurological disorders. This may provide fresh insights and treatment options tailored to her evolving condition.
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Explore Further Testing for Autoimmune Disorders: Discuss with her healthcare team the possibility of testing for additional autoantibodies related to other conditions (like lupus or multiple sclerosis) or conducting genetic tests if appropriate.
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Evaluate Psychological Support: Given the complexity of her condition, psychological stress may also play a role. It may be beneficial to work with a psychologist specialized in chronic illness to support her mental health through therapy tailored to coping with her circumstances.
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Address Nutritional and Supplement Needs: Continue ensuring her nutritional deficiencies are addressed effectively and consider collaborating with a nutritionist familiar with autoimmune conditions to optimize her diet.
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Consider Environmental Assessments: Although unlikely, if you maintain concerns about potential environmental toxins, consulting a specialist in toxicology may help rule out or confirm any environmental contributors to her symptoms.
Final Note
This situation is undoubtedly distressing for you and your daughter, and I encourage ongoing communication with her healthcare team as they work on her management plan. If her symptoms dramatically worsen or new concerning signs arise (such as changes in consciousness or severe agitation), it’s important to seek immediate medical attention. Please take care of yourself while supporting your daughter through this journey, and do not hesitate to seek out community or support groups for families facing similar challenges.
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