CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.
Humans ; Child ; Female ; Cerebellar Ataxia/diagnosis* ; Talipes Cavus ; Hearing Loss, Sensorineural/diagnosis* ; Optic Atrophy/diagnosis* ; Mutation ; Phenotype ; Sodium-Potassium-Exchanging ATPase/genetics* ; Foot Deformities, Congenital ; Reflex, Abnormal

PURPOSE: The aim of this study was to evaluate the prevalence and risk factors for cardiac autonomic neuropathy (CAN) in nonobese nonobese young type 1 diabetes mellitus (T1DM) patients without micro- or macrovascular complications. METHODS: CAN was assessed in 95 patients with T1DM, aged 18–29 years, using standard cardiovascular reflex tests – heart rate response to deep breathing, standing, and the Valsalva maneuver and blood pressure response to standing. Furthermore, power spectral analyses of overall heart rate variability (HRV), standard deviation of NN intervals (SDNN), and total power (TP) were tested with DiCAN. CAN was defined as abnormal results for at least 1 of the 4 cardiovascular reflex tests. RESULTS: The prevalence of CAN was 12.6%. The frequency of one and 2 abnormal reflex tests was 10.5% and 2.1%, respectively. No significant differences were observed in age, sex, mean hemoglobin A(1c) (HbA(1c)) level, and duration of diabetes with respect to presence of CAN. Patients with CAN exhibited lower overall HRV parameters (SDNN and TP) compared with those without CAN even though there was no statistical significance. In multivariable analyses, higher mean HbA(1c) level was significantly associated with lower overall HRV (β=-44.42, P=0.002 for SDNN and β=-2.82, P<0.001 for TP). CONCLUSION: CAN can be detected in 12.6% of young adult T1DM patients even without other micro- or macrovascular complications. Glycemic control is the main determinant to maintain overall HRV and prevent CAN.
Autonomic Nervous System Diseases ; Blood Pressure ; Diabetes Mellitus, Type 1 ; Heart Rate ; Humans ; Korea ; Prevalence ; Reflex ; Reflex, Abnormal ; Respiration ; Risk Factors ; Valsalva Maneuver ; Young Adult

A 34-year-old male was brought to the hospital with a chest gunshot wound. Pulseless upon arrival, blood pressure was absent for 10 minutes. A thoracotomy resulted in return of spontaneous circulation. On hospital day 5, with brainstem reflexes present, he was unresponsive to call or pain, exhibited generalized hyperreflexia and bilateral Babinskys. Median nerve somatosensory evoked potentials (mSSEPs) and brainstem auditory evoked potentials were obtained. International Federation of Clinical Neurophysiology recommendations for mSSEPs and brainstem auditory evoked potentials were followed. Despite absence of the N20 responses from cortical mSSEPs no withdrawal from care was agreed upon. After awaking on day 7, mSSEPs were repeated and present. The patient survived and was discharged with minor deficits. Bilateral absence of N20 responses from mSSEPs performed beyond 48 hours after resuscitation from cardiac arrest is highly associated with bad neurological outcomes. However, variation due to hypothermia, noisy signals, medications, and brain hypo-perfusion must be taken into account.
Adult ; Blood Pressure ; Brain ; Brain Stem ; Critical Care Outcomes ; Evoked Potentials, Auditory, Brain Stem ; Evoked Potentials, Somatosensory ; Heart Arrest ; Humans ; Hypothermia ; Male ; Median Nerve ; Nervous System Diseases ; Neurophysiology ; Prognosis ; Reflex ; Reflex, Abnormal ; Resuscitation ; Thoracotomy ; Thorax ; Wounds, Gunshot

PURPOSE: The neurological molecular mechanisms underlying the voiding dysfunction associated with nonbacterial chronic prostatitis/chronic pelvic pain syndrome remain poorly understood. In this study, we assessed whether prostate inflammation activated bladder afferent neurons, leading to bladder dysfunction, and sought to elucidate the underlying mechanisms. METHODS: Thirty male Sprague-Dawley rats were divided into 3 groups: sham-saline, formalin-injected, and capsaicin-pretreated and formalin-injected. Chemical prostatitis was induced by 0.1 mL of 10% buffered formalin injected into the ventral prostate. Capsaicin was injected subcutaneously to desensitize capsaicin-sensitive nerves. In each group, conscious cystometry was performed, and c-fos expression within the spinal cord was determined immunocytochemically. Double immunofluorescent staining with c-fos and choline acetyltransferase (ChAT) was performed. On the third day after pseudorabies virus (PRV) infection, c-fos and PRV double-staining was performed. RESULTS: Intraprostatic formalin significantly increased the maximal voiding pressure and decreased the intercontraction interval, compared with controls. Pretreatment with capsaicin significantly reversed these effects. More c-fos-positive cells were observed in the sacral parasympathetic nucleus (SPN) and dorsal gray commissure (DCM) in the prostatitis group than in the sham group. c-fos-positive cells decreased in the capsaicin-pretreated group. Preganglionic neurons labeled by c-fos and ChAT were observed in the SPN in rats with prostatitis. Interneurons labeled by c-fos and PRV were identified in the DCM after PRV infection. CONCLUSIONS: Our results suggest that prostate inflammation activates afferent nerve fibers projecting to the lumbosacral spinal cord, producing reflex activation of spinal neurons innervating the bladder and bladder hyperreflexia. This is mediated by capsaicin-sensitive prostate afferent neurons.
Animals ; Capsaicin ; Choline O-Acetyltransferase ; Formaldehyde ; Herpesvirus 1, Suid ; Humans ; Inflammation* ; Interneurons ; Male ; Models, Animal* ; Nerve Fibers ; Neurons ; Neurons, Afferent ; Pelvic Pain ; Prostate ; Prostatitis* ; Rats* ; Rats, Sprague-Dawley ; Reflex ; Reflex, Abnormal ; Spinal Cord ; Urinary Bladder

Syringomyelia is a disorder in which a cavity has formed within the spinal cord. Idiopathic syringomyelia is not associated with identifiable causes such as Chari type 1 malformation, spinal cord tumor, vascular malformation, tethered cord, arachnoiditis, hydrocephalus, or previous spinal surgery. The main neurologic symptoms of idiopathic syringomyelia are toe-walking, constipation, incontinence, abnormal reflexes, and lower extremity weakness. Patients may present with various symptoms such as scoliosis, cutaneous markers, pain in the lower extremities or back, or may be asymptomatic. Herein, we report a young child with idiopathic syringomyelia presenting with subtle neck pain. A 23-month-old boy visited the neurologic clinic after 3 months of right occipital area neck pain. He had no history of trauma or central nervous system infection, and neurologic examination results were normal except for right posterior neck hyperesthesia. Brain and spinal magnetic resonance imaging showed an ovoid intramedullary cystic lesion (9.7×5.0×4.7 mm) at C6/7 of the spinal cord. There was no evidence of Chiari malformation or other lesions that can be primary pathologies of syringomyelia. Electromyogram/nerve conduction velocity results were normal. The subject was diagnosed as idiopathic syringomyelia. His symptoms and neurologic/radiologic indications showed no change at a 1-year follow-up. Idiopathic syringomyelia symptoms are varied and may be overlooked by physicians. Pediatricians may consider syringomyelia if patients complain about persistent sensory abnormality. All patients who present with syringomyelia should undergo detailed neuroimaging of the entire neuraxis to elucidate the proximate cause of the lesion.
Arachnoid ; Arachnoiditis ; Brain ; Central Nervous System Infections ; Child ; Constipation ; Follow-Up Studies ; Humans ; Hydrocephalus ; Hyperesthesia ; Infant ; Lower Extremity ; Magnetic Resonance Imaging ; Male* ; Neck ; Neck Pain ; Neuroimaging ; Neurologic Examination ; Neurologic Manifestations ; Pathology ; Reflex, Abnormal ; Scoliosis ; Spinal Cord ; Spinal Cord Neoplasms ; Syringomyelia ; Vascular Malformations

STUDY DESIGN: Case report OBJECTIVES: To report a case of Brown-Séquard syndrome after blunt cervical trauma. SUMMARY OF LITERATURE REVIEW: Brown-Séquard syndrome is a rare disease characterized by hemisection of the spinal cord, and it shows the best prognosis of the various types of incomplete spinal cord injuries. MATERIALS AND METHODS: A patient with Brown-Séquard syndrome that occurred after a traffic accident was followed up for 2 years and 6 months. RESULTS: We observed normal recovery of motor strength, but sensory impairment and deep tendon hyperreflexia remained. CONCLUSIONS: Brown-Séquard syndrome is known to have a good prognosis, but in this case, the neurological abnormality did not fully recover; therefore, we report this rare case and present a review of the literature.
Accidents, Traffic* ; Cervical Vertebrae ; Female ; Humans ; Prognosis ; Rare Diseases ; Reflex, Abnormal ; Spinal Cord ; Spinal Cord Injuries ; Tendons

The serotonin syndrome is a serioius medical condition due due to an intensive stimulation of setonin receptors. It is a rare, but severe, consequence of interaction between serotomimetic agents. This is a report of a 70-year-old woman steadily in therapy with venlafaxine and rizatriptan for migraine and major depressive syndrome. She was admitted to neurology unit for decreased light reflex with miotic pupils, global hyperreflexia, tremor, anxiety, ataxia and incoordination. The patient was diagnosed as a probable case of serotonin syndrome due to a pharmacological interaction between venlafaxine and rizatriptan trigged by opioid intake. In this paper, the development of syntomatology, the clinical examination and the possible pharmacokinetics explanation were carefully discussed and analysed.
Aged ; Anxiety ; Ataxia ; Codeine* ; Depressive Disorder ; Depressive Disorder, Major ; Female ; Humans ; Migraine Disorders ; Neurology ; Pharmacokinetics ; Prescription Drug Misuse ; Pupil ; Reflex ; Reflex, Abnormal ; Serotonin Syndrome* ; Serotonin* ; Tremor ; Venlafaxine Hydrochloride

In this report, the patient was pre-diagnosed as meningioma before surgery, which turned out to be meningeal melanocytoma. Hence, we will discuss the interpretation of imaging and neurological statuses that may help avoid this problem. A 45-year-old man had increasing pain around the neck 14 months prior to admission. His cervical spine MR imaging revealed a space-occupying, contrast-enhancing mass within the dura at the level of C1. The neurologic examination revealed that the patient had left-sided lower extremity weakness of 4+, decreased sensation on the right side, and hyperreflexia in both legs. Department of Neuroradiology interpreted CT and MR imaging as meningiom. The patient underwent decompression and removal of the mass. We confirmed diagnosis as meningeal melanocytoma through pathologic findings. Afterwards, we reviewed the patient's imaging work-up, which showed typical findings of meningeal melanocytoma. However, it was mistaken as meningioma, since the disease is rare.
Decompression ; Diagnosis ; Humans ; Leg ; Lower Extremity ; Magnetic Resonance Imaging ; Melanoma ; Meningioma ; Middle Aged ; Neck ; Neurologic Examination ; Reflex, Abnormal ; Sensation ; Spine

Pseudoparalysis is defined as immobility of the extremity due to painful limb infection. However, such conditions may be misdiagnosed as nerve palsy when abnormal neurologic findings are present. We report herein a case with femoral osteomyelitis that was misdiagnosed as lumbosacral plexitis. A 7-month-old male infant was brought by his parents to the clinic who noticed that he did not move his left leg since 4 days prior to admission. Four days prior to admission, the parents noticed that he was not moving his left leg. There were no signs of inflammation in the involved limb. The left leg showed a motor weakness with grade 4/5, and it was hypotonic with decreased deep tendon reflexes. No abnormal findings were shown in studies which included lumbar spine magnetic resonance imaging (MRI), abdominal computed tomography (CT), and nerve conduction studies. Lumbosacral plexitis was diagnosed presumptively and intravenous immunoglobulin (IVIG) was given. The patient's symptom did not improve with the IVIG. After the orthopedic consultation, a hip MRI was performed and it showed acute osteomyelitis involving the proximal metaphysis of the left femur. Surgical debridement and intravenous antibiotics were administered. The patient's symptoms improved with treatment and he was fully recovered by the time of discharge. During the 4-year follow-up, the patient is doing well without any complication in the bone growth. During infancy, limb infection may present with nerve palsy that is characterized by hypotonic weakness with hyporeflexia. Pseudoparalysis may be the sole sign of osteomyelitis. In a unilateral limb weakness, musculoskeletal infection should be an initial diagnosis of exclusion with a thorough evaluation.
Anti-Bacterial Agents ; Bone Development ; Debridement ; Diagnosis ; Extremities ; Femur ; Follow-Up Studies ; Hip ; Humans ; Immunoglobulins ; Immunoglobulins, Intravenous ; Infant* ; Inflammation ; Leg ; Magnetic Resonance Imaging ; Male ; Neural Conduction ; Neurologic Manifestations ; Orthopedics ; Osteomyelitis* ; Paralysis ; Parents ; Reflex, Abnormal ; Reflex, Stretch ; Spine

Pseudoparalysis is defined as immobility of the extremity due to painful limb infection. However, such conditions may be misdiagnosed as nerve palsy when abnormal neurologic findings are present. We report herein a case with femoral osteomyelitis that was misdiagnosed as lumbosacral plexitis. A 7-month-old male infant was brought by his parents to the clinic who noticed that he did not move his left leg since 4 days prior to admission. Four days prior to admission, the parents noticed that he was not moving his left leg. There were no signs of inflammation in the involved limb. The left leg showed a motor weakness with grade 4/5, and it was hypotonic with decreased deep tendon reflexes. No abnormal findings were shown in studies which included lumbar spine magnetic resonance imaging (MRI), abdominal computed tomography (CT), and nerve conduction studies. Lumbosacral plexitis was diagnosed presumptively and intravenous immunoglobulin (IVIG) was given. The patient's symptom did not improve with the IVIG. After the orthopedic consultation, a hip MRI was performed and it showed acute osteomyelitis involving the proximal metaphysis of the left femur. Surgical debridement and intravenous antibiotics were administered. The patient's symptoms improved with treatment and he was fully recovered by the time of discharge. During the 4-year follow-up, the patient is doing well without any complication in the bone growth. During infancy, limb infection may present with nerve palsy that is characterized by hypotonic weakness with hyporeflexia. Pseudoparalysis may be the sole sign of osteomyelitis. In a unilateral limb weakness, musculoskeletal infection should be an initial diagnosis of exclusion with a thorough evaluation.
Anti-Bacterial Agents ; Bone Development ; Debridement ; Diagnosis ; Extremities ; Femur ; Follow-Up Studies ; Hip ; Humans ; Immunoglobulins ; Immunoglobulins, Intravenous ; Infant* ; Inflammation ; Leg ; Magnetic Resonance Imaging ; Male ; Neural Conduction ; Neurologic Manifestations ; Orthopedics ; Osteomyelitis* ; Paralysis ; Parents ; Reflex, Abnormal ; Reflex, Stretch ; Spine