Acute Neuritis Research Articles

Small fibre integrity and axonal pathology in the rat model of experimental autoimmune neuritis.

Experimental autoimmune neuritis is a common animal model for acute human immune-mediated polyneuropathies. Although already established in 1955, a number of pathophysiological mechanisms remain unknown. In this study, we extensively characterize experimental autoimmune neuritis progression in Lewis rats, including new insights into the integrity of small nerve fibres, neuropathic pain and macrophage activation. Acute experimental autoimmune neuritis was induced with P253-78 peptide and consequently investigated using the gait analysis system CatWalk XT, electrophysiological and histopathological analyses, quantitative polymerase chain reaction (PCR), dorsal root ganglia outgrowth studies, as well as the von Frey hair and Hargreaves tests. For the longitudinal setup, rats were sacrificed at Day (d) 10 (onset), d15 (peak), d26 (recovery) and d29 (late recovery). We confirmed the classical T-cell and macrophage-driven inflammation and the primarily demyelinating nature of the experimental autoimmune neuritis. The dual role of macrophages in experimental autoimmune neuritis is implicated by the high number of remaining macrophages throughout disease progression. Furthermore, different subpopulations of macrophages based on Cx3-motif chemokine receptor 1 (Cx3cr1), platelet factor 4 (Pf4) and macrophage galactose-type lectin-1 (Mgl1) expressions were identified. In addition, modulation of the sensory system in experimental autoimmune neuritis was detected. An outgrowth of small fibres in the plantar skin at the onset and peak of the experimental autoimmune neuritis was evident parallel to the development of acute hyperalgesia mediated through transient receptor potential vanilloid 1 modulation. Our data depict experimental autoimmune neuritis as a primary demyelinating disease with implicated axonal damage, a small unmyelinated fibre impairment throughout the disease progression course, and underline the pivotal role of macrophages in the effector and during the recovery stage.

常规针刺联合中药熏蒸治疗急性期风寒型面神经炎的临床疗效观察

常规针刺联合中药熏蒸治疗急性期风寒型面神经炎的临床疗效观察

Herpes Zoster Infections in Solid-Organ Transplant Recipients.

Herpes zoster infections can be complicated and mortal in solid-organ transplant recipients. In our study, we investigated herpes zoster infections in solid-organ transplant recipients. UntilJune 2022, our center has performed 3342 kidney, 708 liver, and 148 heart transplants.Herpes zosterinfections were investigated in 1050 adult solid-organ transplant recipients from January 1, 2011, to June 31, 2022. We studied 44 patients diagnosed with herpes zoster infections. Of the 44 patients with herpes zoster, 32 had kidney, 7 had heart, and 5 had liver transplant procedures. Crude incidence rate was 5.2%.,with 9.7% being heart, 5.1% being kidney, and 3.9% being liver transplant recipients; 72.7% were male patients. The median age was 47.5 years, and 61% of patients were aged >45 years. Postherpetic neuralgia was significantly higher in patients older than 45 years (P = .006). The median duration to infection posttransplant was 16.5 months. The dermatomes of patients were 43.2% thoracic. Sacral dermatome involvement was significantly higher in heart transplant patients than in other transplant recipients (P = .015). We reviewed specific findings of the Tzanck test in 36.4% of the patients. There was concomitant infection in 15.9% of the patients, and 6.8% had pneumonia. Acute neuritis was more common in kidney transplant recipients (65.6%). The mean duration of acute neuritis/neuralgia was longest in liver transplant recipients (13.5 months; P = .047). Postherpetic neuralgia was detected as high as 24%. Early specific and supportive treatmentis important for transplant recipients with herpes zoster infections. Appropriate antiviral prophylaxis regimens and vaccination strategies for varicella zoster (chickenpox) and herpes zoster infections should be implemented in the vaccination schedule of solidorgan transplant candidates to prevent herpes zoster infections and complications.

703 Parsonage Turner Syndrome After COVID-19 Vaccination – a Systematic Review

Abstract Aim Parsonage Turner Syndrome (PTS) is a rare acute neuritis usually reported after an antecedent event like surgery, infection, trauma, medication or immunisation. PTS presents as sudden, often unilateral, severe shoulder pain with progressive weakness and altered neurology. The global mass COVID vaccine program has resulted in increased reporting of post-vaccine PTS. The aim of this review is to report the outcomes of PTS after COVID-19 vaccination. Method A systematic review was conducted according to the PRISMA statement. An electronic search was performed on Medline, PubMed, Embase and CINAHL databases using the keywords ‘COVID-19’, ‘Coronavirus’, ‘Parsonage Turner Syndrome’, ‘Brachial neuritis’, ‘Neuralgic Amyotrophy’, ‘Vaccine’, ‘Immunisation’ and ‘Shoulder’. Results 16 articles with a total of 35 patients, 24 males and 11 females, were reviewed. The mean age was 52 years. The median time to develop symptoms was 7 days, with 69% patients reporting ipsilateral symptoms to the vaccinated arm. 91% patients presented with sensory and motor symptoms. MRI scan was normal in 26% while denervation muscle oedema was present in 20%. 37% patients were treated with physiotherapy and rest, while 63% received steroid therapy. 23% showed no improvement while 69% showed partial or complete improvement. The mean follow-up time was 3 months (range one week to six months). Conclusions PTS is a rare complication described with vaccines like influenza, tetanus and hepatitis. PTS is also associated with the COVID vaccine. The limited reports suggest the treatment and recovery are consistent with that for other aetiology. This complication is not a reason to avoid the COVID vaccine.

Evidencing leprosy neuronal inflammation by 18-Fluoro-deoxy-glucose.

Leprosy is caused by multiple interactions between Mycobacterium leprae (M. leprae) and the host's peripheral nerve cells. M. leprae primarily invades Schwann cells, causing nerve damage and consequent development of disabilities. Despite its long history, the pathophysiological mechanisms of nerve damage in the lepromatous pole of leprosy remain poorly understood. This study used the findings of 18F-FDG PET/CT on the peripheral nerves of eight lepromatous patients to evaluate the degree of glucose uptake by peripheral nerves and compared them with clinical, electrophysiological, and histopathological evaluations. Eight patients with lepromatous leprosy were included in this study. Six patients were evaluated up to three months after leprosy diagnosis using neurological examination, nerve conduction study, 18F-FDG PET/CT, and nerve biopsy. Two others were evaluated during an episode of acute neuritis, with clinical, neurophysiological, and PET-CT examinations to compare the images with the first six. Initially, six patients already had signs of peripheral nerve injury, regardless of symptoms; however, they did not present with signs of neuritis, and there was little or no uptake of 18F-FDG in the clinically and electrophysiologically affected nerves. Two patients with signs of acute neuritis had 18F-FDG uptake in the affected nerves. 18F-FDG uptake correlates with clinical neuritis in lepromatous leprosy patients but not in silent neuritis patients. 18F-FDG PET-CT could be a useful tool to confirm neuritis, especially in cases that are difficult to diagnose, such as for the differential diagnosis between a new episode of neuritis and chronic neuropathy.

Diagnosis and treatment of the otitis externa and media

Diagnosis and treatment of the otitis externa and media

Acute peripheral neuropathy following animal envenomation: A case report and systematic review

Animal envenomation in humans is usually accidental or for defensive purposes. Depending on the venom composition and administration, different reactions can be observed. After reporting the first case of acute polyradiculitis in a 57-year-old healthy male after red lionfish envenomation, we propose to analyze rare similar cases of acute neuritis after animal envenomation published in the medical literature. Including our case, we found 54 patients who developed acute peripheral neuropathy after having been stung or bitten by various animals, mainly hymenoptera (in half of the cases) but also jellyfishes, snakes, corals or nonhooked arthropods. We observed two distinct patterns of peripheral neuropathy: more than half of them were polyneuropathy while the others were focal neuropathy. The prognosis was favorable in most cases. The pathophysiological mechanism associated with these rare complications remain unknown, although some hypotheses may be proposed. A direct action of certain components of the venom, such as phospholipase-A2, could explain the focal forms of peripheral neuropathy trough toxic reactions and/or vasculitis processes. The more diffuse clinical situations could be due to an allergy-triggered immune-mediated reaction (possibly linked to a molecular mimicry mechanism between venom proteins and some myelin proteins of the peripheral nervous system), or to the action of some venom components on membrane ionic channels particularly at the node of Ranvier. Even if acute peripheral neuropathies are rare after envenomation, they may occur after envenomation from various animals, and their usually favorable prognoses should be known by neurologists.

Adult Vitamin D Deficiency Impairs Hippocampal-Dependent Memory and Proteins Related to Synaptic Plasticity and Metabolism in Mice

Bee stings are commonly encountered worldwide [1]. Various manifestations after bee sting have been described. Local reactions such as pain, wheal, flare, edema and swelling are common and generally self-limiting. Uncommonly manifestations like vomiting, diarrhea, dyspnea, generalized edema, acute renal failure, anaphylactic shock, myocardial infarction, hypotension, collapse, pulmonary hemorrhage, acute hemorrhagic pancreatitis, atrial fibrillation, vasculitis, serum sickness, neuritis and encephalitis may occur [2]. We report a case of a 27-year-old male who developed right sided hemiparesia and dysphasia following multiple bee stings.

Leprosy Reactions and Neuropathic Pain in Pure Neural Leprosy in a Reference Center in Rio de Janeiro - Brazil.

IntroductionLeprosy reactions are complications that can occur before, during, or after multidrug therapy (MDT) and are considered a major cause of nerve damage. Neuritis is an inflammatory process that causes nerve function impairment associated with pain and tenderness along the nerve. Neuritis can be found in both type 1 and type 2 reactions and may also be the sole manifestation of a leprosy reaction. The objective of this study is to describe the incidence of leprosy reactions and its association with neuropathic pain in pure neural leprosy (PNL) patients.MethodsWe selected 52 patients diagnosed with PNL and 67 patients with other clinical forms of leprosy. During the MDT the patients visited the clinic monthly to take their supervised dose. The patients were instructed to return immediately if any new neurological deficit or skin lesions occurred during or after the MDT.ResultsOf the PNL patients, 23.1% had a leprosy reaction during or after the MDT, while this was 59.7% for patients with the other clinical forms of leprosy. There was an association between having PNL and not having any reaction during and after the MDT, as well as having PNL and having neuritis after the MDT.There was also an association between having previous neuritis and having neuropathic pain in the other clinical forms of leprosy group, although this association was not present in the PNL group.DiscussionOur data suggest that PNL is a different form of the disease, which is immunologically more stable. In addition, PNL patients have more neuritis than the classical leprosy skin reactions. In PNL there was no association between acute neuritis and neuropathic pain, suggesting that these patients may have had silent neuritis. Understanding and identifying neuritis is essential to reduce disability and the impact on public health.

Magnetic resonance imaging (mri) for parsonage turner syndrome / Ressonância magnética (ressonância magnética) para a síndrome do virador do presbitério

Parsonage Turner Syndrome (PTS) is an acute neuritis involving the brachial plexus and peripheral nerves of the shoulder, that presents with sudden onset of shoulder pain, and progresses to paresis and atrophy of the muscles innervated by the involved segments. The diagnosis relies on clinical history and physical examination combined with Magnetic Resonance Imaging (MRI) and electroneuromyography. The MRI is a very important asset in the evaluation of these patients, as it allows the confirmation of PTS diagnosis and excludes other differential diagnosis of shoulder pain. Its findings include acute and chronic denervation, and possible alteration of the brachial plexus or involved peripheral nerves signal. PTS has a good prognosis requiring only support treatment in most cases. The early and correct diagnosis is essential to the proper patient´s conduct, as it allows proper treatment, and it avoids additional tests and unnecessary surgical procedures. This article contains a PTS case report with clinical presentation, physical examination images, diagnosis, MRI images, evolution, and prognosis, as well as a literature review.

Treatment and Evaluation Advances in Leprosy Neuropathy.

Neuropathy and related disabilities are the major medical consequences of leprosy, which remains a global medical concern. Despite major advances in understanding the mechanisms of M. leprae entry into peripheral nerves, most aspects of the pathogenesis of leprosy neuropathy remain poorly understood. Sensory loss is characteristic of leprosy, but neuropathic pain is sometimes observed. Effective anti-microbial therapy is available, but neuropathy remains a problem especially if diagnosis and treatment are delayed. Currently there is intense interest in post-exposure prophylaxis with single-dose rifampin in endemic areas, as well as with enhanced prophylactic regimens in some situations. Some degree of nerve involvement is seen in all cases and neuritis may occur in the absence of leprosy reactions, but acute neuritis commonly accompanies both Type 1 and Type 2 leprosy reactions and may be difficult to manage. A variety of established as well as new methods for the early diagnosis and assessment of leprosy neuropathy are reviewed. Corticosteroids offer the primary treatment for neuritis and for subclinical neuropathy in leprosy, but success is limited if nerve function impairment is present at the time of diagnosis. A candidate vaccine has shown apparent benefit in preventing nerve injury in the armadillo model. The development of new therapeutics for leprosy neuropathy is greatly needed.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13311-021-01153-z.

Research Progress in Rehabilitation Treatment and Nursing of Acute Facial Neuritis

Research Progress in Rehabilitation Treatment and Nursing of Acute Facial Neuritis

Restricted Diffusion of the Optic Nerves in Patients with Acute Optic Neuritis: A Diagnostic Accuracy Study

Objective: To evaluate the diagnostic accuracy of restricted diffusion of the optic nerves in patients with acute optic neuritis (ON). Materials and Methods: The present study was a diagnostic accuracy study, including all acute ON patients, admitted to Ramathibodi Hospital in Thailand, between January 2014 and December 2018 (ID 075739). Patients were divided into acute ON and non-optic neuritis condition (non-ON) groups. The acute ON group was divided further into neuromyelitis optica spectrum disorder-associated optic neuritis (NMOSD-ON) group and other types of ON (other-ON) group. Patients’ clinical information and MRI scans were reviewed retrospectively. Restricted diffusion of the optic nerves was present if hyperintense signals were observed on diffusion-weighted imaging (DWI) and hypointense signals were observed on the apparent diffusion coefficient (ADC) map. Results: A total of 102 patients were included in the present study (141 optic nerves). Of all patients, 78 had acute ON (76.5%), and 24 had non-ON (23.5%). Of all optic nerves, there were 95 optic nerves in the acute ON group (67.4%) and 46 in the non-ON group (32.6%). Of 95 optic nerves in the acute ON group, there were 52 optic nerves in the NMOSD-ON group (54.7%) and 43 in the other-ON group (45.3%). Restricted diffusion of the optic nerves demonstrated a sensitivity of 77.9%, specificity of 95.7%, positive predictive value of 97.4%, and negative predictive value of 67.7% in identifying acute ON. It had a sensitivity of 86.5%, specificity of 32.6%, positive predictive value of 60.8%, and negative predictive value of 66.7% in differentiating NMOSD-ON from other-ON. Conclusion: The diffusion MRI can be a marker of acute ON. The test is most useful for ruling in acute ON when restricted diffusion is positive. However, further investigations might be required in negative tests. Restricted diffusion is positive in several types of ON. It is difficult to differentiate NMOSD-ON from other ON types using diffusion MRI alone. Keywords: Neuromyelitis optica spectrum disorders, Optic neuritis, Diffusion-weighted imaging, Apparent diffusion coefficient, Restricted diffusion

Оценка комплексной этиотропной противовирусной терапии в лечении пациентов с острым герпесвирусным оптическим невритом

Оценка комплексной этиотропной противовирусной терапии в лечении пациентов с острым герпесвирусным оптическим невритом

Imaging of facial neuritis using T2-weighted gradient-echo fast imaging employing steady-state acquisition after gadolinium injection.

MRI is the modality of choice for the imaging of facial neuritis. Previously, gadolinium-enhanced T1-weighted imaging of the petrous bone, then FLAIR sequences were thought to be most informative for acute facial neuritis imaging. The aim of this study is to evaluate the value of contrast-enhanced T2-weighted sequence for the diagnosis of acute facial neuritis and compare it to contrast-enhanced T1-weighted and FLAIR sequences. We included 50 patients with an acute unilateral idiopathic peripheral facial neuritis. An MRI (3T) with three sequences was performed (T1-weighted, T2-weighted and FLAIR), all acquired after intravenous contrast-media injection. The contrast-enhanced T2-weighted sequence appeared to be the most accurate one for the diagnosis of acute facial neuritis (Se 94%, Sp 100%, accuracy 98.2%, p < 0.001), with a pathological facial nerve strongly (grade 2-3) enhancing and a homogenous enhancement along the course of the entire facial nerve. Contrast-enhanced T1-weighted (Se 80%, Sp 100%, accuracy 94.1%) and FLAIR sequences (92%, Sp 88%, accuracy 90%, p < 0.001) showed lower accuracy. On T1-weighted sequence, a strong enhancement (blurred margins) of the canalicular segment was observed in 80% of the cases when it was never observed in normal nerves. A strong (= iso to hyperintense to the petrous fat signal) and diffuse (all segments) enhancement of the facial nerve on T2-weighted steady-state free precession sequence is a sensitive and specific sign for the diagnosis of acute idiopathic facial neuritis, and appears superior to T1WI and FLAIR sequences.

Experience of treating facial neuritis, unexplained limb weakness, cervical spondylosis, acute myelitis, acute radiculitis, Guillain Barre syndrome, multiple sclerosis, myasthenia gravis, motor neuron disease, dermatomyositis with Xiaoxuming Decoction

Xiaoxuming Decoction is an ancient classic herbal formula for the treatment of stroke. In ancient times, the connotation of stroke was very extensive, including facial neuritis, acute cerebral infarction, acute cerebral hemorrhage, sequelae of cerebral hemorrhage, unexplained weakness of limbs, cervical spondylosis, acute myelitis, acute radiculitis, Guillain Barre syndrome, multiple sclerosis, myasthenia gravis, motor neuron disease, dermatomyositis, hypokalemic paralysis peripheral neuritis. It has been identified that: ①Xiaoxuming Decoction is very common in the treatment of cerebrovascular diseases, such as cerebral infarction, cerebral hemorrhage and other cerebrovascular diseases, facial neuritis, acute myelitis, acute radiculitis, Guillain Barre syndrome, unexplained limb weakness, multiple sclerosis, motor neuron disease, myasthenia gravis, and rheumatic and immune system diseases, such as dermatomyositis, and can not only alleviate symptoms, but also improve prognosis and the long-term survival rate. ②Sudden limb failure, facial paralysis, and hypoalgesia without heat syndrome are the key indications of Xiaoxuming Decoction. ③This is a special prescription for the treatment of acute facial neuritis, and can cure in one week in the combination with moxibustion. ④In the treatment of facial neuritis complicated with hypertension or acute cerebrovascular disease, Xiaoxuming Decoction generally has a certain antihypertensive effect, without any hypertensive effect, which reflected its two-way regulatory effect for blood pressure. ⑤In the treatment of unknown limb weakness, acute myelitis, acute radiculitis, Guillain Barre syndrome, Xiaoxuming Decoction can rapidly alleviate the symptoms. ⑥This is the basic formula for multiple sclerosis and motor neuron disease. Long term use of Xiaoxuming Decoction can alleviate the symptom of limb weakness, reduce the occurrence of complications and delay the progress of the disease, but with a poor long-term prognosis. ⑦In the treatment of myasthenia gravis, Xiaoxuming Decoction can significantly improve muscle strength, and gradually help stop hormone reduction. After thymoma surgery, Xiaoxuming Decoction is also applicable to some patients with recurrent myasthenia gravis. ⑧Xiaoxuming Decoction also plays a role in the treatment of dermatomyositis and cervical spondylopathy. ⑨Raw ephedra is the monarch drug of Xiaoxuming Decoction, which is the key to the effect. The dosage starts with 6 g is titrated in a small dose and increases gradually. In addition, this formula is forbidden for those with red face, fast heart rate, high blood pressure, blocked stool, red tongue, yellow fur, wiry and rapid pulse or powerful pulse, and spout pulse.

Перспективы применения современной этиотропной противовирусной терапии в комплексном лечении пациентов с острым герпесвирусным оптическим невритом

Перспективы применения современной этиотропной противовирусной терапии в комплексном лечении пациентов с острым герпесвирусным оптическим невритом

Acute Trigeminal Nerve Neuritis in German Shepherd

Background: Trigeminal nerve is composed by ophthalmic, maxillary and mandibular portion, presenting sensory and motor functions. Its most common conditions include vascular, neoplastic, infectious and inflammatory causes. Neuritis is an inflammation caused by a primary nerve injury that can progress to demyelination and even degeneration of nerve fibers. The present report aims to describe an unusual case of a female dog, German Shepherd breed, with acute manifestation of trigeminal nerve neuritis whose etiology may be associated with erlichiosis, since infection with Ehrlichia spp. through serological test was verified.Case: A 3-year-old female German Shepherd , weighing 26.8 kg and not neutered, was attended at Veterinary Hospital Dr. Halim Atique - UNIRP, São José do Rio Preto, SP, Brazil presenting apathy, sialorrhea and polydipsia for seven days. The tutor reported an episode of foamy and yellowish vomit three days ago and ixodidiosis last week. Physical examination revealed flaccid open-mouthed posture, with mild bilateral masseter and moderate temporal muscle atrophy. Water was offered to the animal and it was observed that it could not properly seize, confirming a false polydipsia. The neurological examination revealed a slight decrease in head sensitivity, difficulty in chewing and seizure of food. It was not observed alterations in the other pairs of cranial nerves or other neurological parameters (postural reactions and spinal reflexes), and the diagnose of bilateral dysfunction of the trigeminal nerve was based on the affected neuroanatomic region. On neurological examination, other lesions of the nervous system were ruled out, suggesting an isolated manifestation of the trigeminal nerve. CBC revealed anemia, intense thrombocytopenia and leukocytosis by neutrophilia. Radiographic examination ruled out the possibility of trauma due to the absence of mandible fracture and also temporomandibular joint alterations. Masseter and temporal muscle biopsy were performed, and myositis or other masticatory muscle alterations were discarded among the diagnostic possibilities. Serological tests showed non-reactive results for toxoplasmosis and neosporosis, but reagent for Erlichia spp.Discussion: Idiopathic trigeminal neuritis (ITN) has an unknown etiology, but is not related to signs of systemic disease, and is usually not associated with deficits in other cranial nerves. The main clinical sign related to this condition is acute jaw paralysis, with inability to close the mouth, and in some cases is observed sensitivity deficits in face, as observed in the dog of this report during the neurological examination. In the patient of the present report, no justifiable causes were found for the presented symptoms, except the presence of erlichiosis. The treatment was based on the use of prednisone, doxycycline, antioxidants and vitamin complex. Response to treatment was satisfactory after seven days, and complete remission of clinical signs occurred nine days after its onset. Although cranial nerve neuritis is an uncommon clinical manifestation of erlichiosis, the patient in this study presented a good response to the treatment instituted, suggesting that erlichiosis is an important differential diagnosis for neuritis.

Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report

BackgroundAcute disseminated encephalomyelitis is generally preceded by an infection, and it is usually self-limiting and non-recurrent. However, when there are multiple attacks of acute disseminated encephalomyelitis followed by optic neuritis, it is defined as acute disseminated encephalomyelitis-optic neuritis. To the best of our knowledge, there are no previous reports of acute disseminated encephalomyelitis and optic neuritis preceded by autoinflammation, triggered by periodic fever syndrome.Case summaryWe report on a case of acute disseminated encephalomyelitis with optic neuritis and periodic fever syndrome in a 12-year-old Ecuadorian Hispanic boy with several relapses over the past 10 years, always preceded by autoinflammatory manifestations and without evidence of infectious processes. Whole exome sequencing was performed, and although the results were not conclusive, we found variants in genes associated with both autoinflammatory (NLRP12) and neurological (POLR3A) phenotypes that could be related to the disease pathogenesis having a polygenic rather than monogenic trait.ConclusionWe propose that an autoinflammatory basis should be pursued in patients diagnosed as having acute disseminated encephalomyelitis and no record of infections. Also, we show that our patient had a good response after 1 year of treatment with low doses of intravenous immunoglobulin and colchicine.

Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis

BackgroundHyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene. So far only four different pathogenic mutations are known. The manifestation is mostly in neonatal age, in early infancy or early childhood.Case presentationThe 64-years female patient had a long history of abdominal pain, and episode of an acute neuritis. Ten years later she was admitted into the neurological intensive-care-unit with acute abdominal pain, multiple generalized epileptic seizures, a vertical gaze palsy accompanied by extensive lactic acidosis in serum 26.0 mmol/l (reference: 0.55–2.2 mmol/l) and CSF 12.01 mmol/l (reference: 1.12–2.47 mmol/l). Due to repeated epileptic seizures and secondary complications a long-term sedation with a ventilation therapy over 20 days was administered. A diagnostic work-up revealed up to 400-times increased prolin-level in urine CSF and blood. Furthermore, a low vitamin-B6 serum value was found, consistent with a HPII causing secondary pyridoxine deficiency and seizures. The ALDH4A1 gene sequencing confirmed two previously unknown compound heterozygous variants (ALDH4A1 gene (NM_003748.3) Intron 1: c.62 + 1G > A - heterozygous and ALDH4A1 gene (NM_003748.3) Exon 5 c.349G > C, p.(Asp117His) - heterozygous). Under high-dose vitamin-B6 therapy no further seizures occurred.ConclusionWe describe two novel ALDH4A1-variants in an adult patient with hyperprolinemia type II causing secondary pyridoxine deficiency and seizures. Severe and potentially life-threatening course of this treatable disease emphasizes the importance of diagnostic vigilance and thorough laboratory work-up including gene analysis even in cases with atypical late manifestation.