Introduction: Gitelman Syndrome (GS), a rare autosomal recessive inherited disorder, is frequently unrecognized in the clinical setting. GS typically manifests with severe hypokalemia with debilitating and potentially fatal consequences if untreated. As of writing, confirmatory genetic assays are currently unavailable in the country, and the diagnosis of GS is primarily based on several biochemical laboratory tests. This results in the difficulty with prompt diagnosis of GS in the locality. Case: We present a 52-year-old male who came in with chronic, intermittent paraparesis associated with persistent hypokalemia. A diagnosis of GS was made biochemically based on renal wasting of potassium and magnesium, hypocalciuria, and metabolic alkalosis. Electrolyte correction with lifelong supplementation, and administration of Spironolactone resulted in the resolution of bilateral leg weakness. Electrolyte levels were maintained within normal limits in the outpatient setting. Conclusion GS is an uncommon potentially debilitating disorder that may lead to problematic, potentially fatal consequences to electrolyte abnormalities if left untreated. The lack of awareness and consequent delay in the diagnosis, and the unavailability of confirmatory genetic testing remains a clinical challenge. Timely recognition and initiation of treatment leads to early control of electrolyte levels, and better prognosis.
Gitelman&rsquo ; s Syndrome ; Paraparesis ; Hypokalemia ; Hypomagnesemia ; Spironolactone ; Case Report

Background: Neurofibromatosis-2 (NF2) is a rare neurocutaneous syndrome that typically presents with hearing loss, tinnitus, or weakness associated with few subcutaneous nodules. In contrast to neurofibromatosis-1 (NF1), NF2 presents clinically with more central lesions rather than peripheral lesions. The presence of bilateral vestibular schwannomas through imaging studies distinguishes NF2 from other neurocutaneous syndromes. Case: This is a case of an 18-year-old male who presented with lower paraparesis with associated hearing loss, cataract, and a few subcutaneous nodules. Centrally located lesions were suspected, thus brain and spine magnetic resonance imaging (MRI) were done revealing bilateral vestibular schwannomas and spine neurofibromas. The patient and family were advised for tumor surveillance, and apprised of surgical intervention once with brainstem compression symptoms. Conclusion NF2 is a rare debilitating disease that may lead to multiple neurologic deficits. The absence of recommended medical treatment and the multifocality of the tumors leave surgical resection a high-risk treatment option. Early recognition by tumor surveillance may give patients with NF2 a better prognosis and survivability.
Neurofibromatoses ; Neurilemmoma ; Neurofibroma ; Paraparesis ; Bevacizumab

We encountered a very rare case of spontaneous spinal cerebrospinal fluid (CSF) leakage and a spinal intradural arachnoid cyst (AC) that were diagnosed at different sites in the same patient. These two lesions were thought to have interfered with the disease onset and deterioration. A 30-year-old man presented with sudden neck pain and orthostatic headache. Diplopia, ophthalmic pain, and headache deteriorated. CSF leakage was confirmed in C2 by radioisotope cisternography, and an epidural blood patch was performed. While his symptoms improved gradually, paraparesis suddenly progressed. Thoracolumbar magnetic resonance imaging (MRI) revealed an upper thoracic spinal intradural AC, which was compressing the spinal cord. We removed the outer membrane of the AC and performed fenestration of the inner membrane after T3-4 laminectomy. Postoperative MRI showed complete removal of the AC and normalized lumbar subarachnoid space. All neurological deficits including motor weakness, sensory impairment, and voiding function improved to normal. We present a case of spontaneous spinal CSF leakage and consecutive intracranial hypotension in a patient with a spinal AC. Our report suggests that if spinal CSF leakage and a spinal AC are diagnosed in one patient, even if they are located at different sites, they may affect disease progression and aggravation.
Adult ; Arachnoid ; Blood Patch, Epidural ; Cerebrospinal Fluid Leak ; Cerebrospinal Fluid ; Diplopia ; Disease Progression ; Headache ; Humans ; Intracranial Hypotension ; Laminectomy ; Magnetic Resonance Imaging ; Membranes ; Neck Pain ; Paraparesis ; Spinal Cord ; Subarachnoid Space

STUDY DESIGN: Retrospective study. PURPOSE: To determine prognostic factors of neurological complications (NCs) of posterior thoracolumbar surgeries. OVERVIEW OF LITERATURE: There have been few reports on the prognosis of NCs according to the causes and treatment methods. METHODS: The subjects were 65 patients who had NCs for 19 years (1995–2013) after posterior thoracolumbar surgeries in Seoul Sacred Heart General Hospital. The degree of neurological injury was assessed using numeric scales as follows: G1, increased leg pain or sensory loss; G2, hemiparesis; G3, paraparesis; G4, cauda equine syndrome; and G5, complete paraplegia. The relative degree of neurological recovery was evaluated using four numeric scales as follows: Gr1, complete recovery; Gr2, almost complete recovery with residual sensory loss or numbness; Gr3, partial recovery with apparent neurological deficit; and Gr4, no recovery. The prognostic factors were investigated in terms of demographic and surgical variables that were available in a retrospective review. RESULTS: The causes were as follows: epidural hematoma (EH), 25 patients (38.5%); insufficient decompression and fusion, 14 patients (21.5%); mechanical injury, 11 patients (16.9%); insufficient discectomy, four patients (6.2%); and unknown, 11 patients (23.1%). The grade of neurological injury was as follows: G1, 11 patients (16.9%); G2, 34 patients (52.3%); G3, 15 patients (23.1%); G4, three patients (4.6%); and G5, two patients (3.1%). Thirteen patients received conservative treatment, and 52 underwent revision surgeries. Neurological recovery was as follows: Gr1, 21 patients (32.3%); Gr2, 17 patients (26.2%); Gr3, 20 patients (30.8%); and Gr4, seven patients (10.8%). The prognosis depended on the causes (p =0.041). The subgroup analysis of the revision group revealed a significant correlation between the degree of neurological recovery and the timing of revision, irrespective of causes (r =0.413, p =0.002). CONCLUSIONS: The prognosis of NC depended on the causes. EH was the best and unknown was the worst prognostic factor. Revision should be performed as soon as possible for a better prognosis.
Decompression ; Diskectomy ; Heart ; Hematoma ; Hospitals, General ; Humans ; Hypesthesia ; Leg ; Paraparesis ; Paraplegia ; Paresis ; Prognosis ; Retrospective Studies ; Seoul ; Weights and Measures

Spastic paraparesis is caused by various etiologies such as autoimmune, infection, genetic and metabolic disorder. Adrenomyeloneuropathy (AMN) is very rare but one of important causes in spastic paraparesis. We experienced a patient presenting with adult-onset progressive spastic paraparesis, who was diagnosed as AMN with hemizygous c.431C>T (p.A144V), a novel mutation in exon1. The level of very long chain fatty acid should be included in diagnostic work-up for patients presenting with adult-onset progressive spastic paraparesis.
Adrenoleukodystrophy ; Humans ; Muscle Spasticity ; Paraparesis, Spastic

Neurologic symptoms that develop unconsciously and are incompatible with known pathophysiologic mechanisms or anatomic pathways belong to Conversion Disorder (CD). CD diagnosis is based on the clinical history and the exclusion of physical disorders causing significant distress or social and occupational impairment. In a subgroup of CD, called functional weakness (FW), symptoms affecting limbs may be persistent, thus causing a permanent or transient loss of limb function. Physiotherapy, pharmacotherapy, hypnotherapy and repetitive transcranial magnetic stimulation (rTMS) have been proposed as treatment strategies for FW-CD. Herein, we report a 30 year-old male, presenting with lower limb functional paraparesis, having obtained positive, objectively, and stable effects from a prolonged r-TMS protocol associated to a multidisciplinary approach, including psychological and sexuological counseling, and monitored by gait analysis. We postulate that our rTMS protocol, combined with a multidisciplinary approach may be the proper treatment strategy to improve FW-CD.
Brain* ; Conversion Disorder ; Counseling ; Diagnosis ; Drug Therapy ; Extremities ; Gait ; Humans ; Hypnosis ; Lower Extremity ; Male ; Neurologic Manifestations ; Paraparesis* ; Transcranial Magnetic Stimulation

Neurocysticercosis (NCC) by Taenia solium is the most common parasitic infection of the central nervous system involving the cerebrum. However, spinal involvement of NCC is rare. Spinal NCC can cause radiculopathy, myelopathy, cauda equina syndrome, and even paraparesis, depending on its location and size. Spinal NCC may require surgical treatment as a first-line treatment because medical therapy can further aggravate the inflammation due to dead cysts, resulting in clinical deterioration. The current standard therapy for spinal NCC is surgical decompression followed by medical therapy. We experienced a case of widespread thoracolumbar intradural extramedullary cysticercosis involving the spinal canal with cerebral cysticercosis. We report this rare case with literature review.
Central Nervous System ; Cerebrum ; Cysticercosis* ; Decompression, Surgical ; Humans ; Inflammation ; Neurocysticercosis ; Paraparesis ; Polyradiculopathy ; Radiculopathy ; Spinal Canal* ; Spinal Cord Diseases ; Spine ; Taenia solium

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.
Gap Junctions ; Humans ; Muscle Spasticity* ; Paraparesis, Spastic*

OBJECTIVE: To examine the effect of meningomyelocele sac size on prognosis by retrospective review of 64 cases operated for meningomyelocele between January 2009 and December 2012. METHODS: We evaluated newborn babies operated for meningomyelocele by retrospectively reviewing their files for head circumference, location and with of the defect, accompanying anomalies, treatments administered, drugs that mother used during pregnancy. Based on the defect size, 3 patient groups were created as 0–24 cm² (group I), 25–39 cm² (group II), and 40 cm² and above (group III). RESULTS: Throughout the study, 64 babies were evaluated. Mean head circumference was 37.4 cm (range, 30.7–50 cm). Based on their location, 49 of the defects (76.5%) were lumbar, 7 (10.9%) were thoracolumbar, 4 (6.2%) were thoracic, 3 (3.1%) were sacral, 1 (1.5%) was cervical. Mean size of the meningomyelocele sac was 4.7 cm×5.8 cm (range, 1 cm×1 cm—10 cm×8 cm), 13 of the babies (20.3%) had skin defect requiring flap. According to accompanying anomalies, 47 of the babies (73.4%) had hydrocephalus, 7 (10.9%) had club foot, 1 (1.5%) had diastematomyelia, 1 (1.5%) had tethered cord. Thirty-nine of the babies (60.9%) had paraplegia, 10 (15.6%) had paraparesis, 8 (12.5%) had monoplegia; neurological examination in the remaining 7 babies was normal. CONCLUSION: In our study, increased diameter of meningomyelocele sac was associated with greater amount of neural tissue within the sac, which worsens the prognosis. Sac localization was not changing prognosis but infection rates, hospitalization duration were increased in babies with bigger diameter of sacs.
Foot ; Head ; Hemiplegia ; Hospitalization ; Humans ; Hydrocephalus ; Infant, Newborn ; Meningomyelocele* ; Mothers ; Neural Tube Defects ; Neurologic Examination ; Paraparesis ; Paraplegia ; Pregnancy ; Prognosis* ; Retrospective Studies ; Skin

STUDY DESIGN: Literature review. OBJECTIVES: The aim of this study was to provide insight into idiopathic spinal cord herniation (ISCH) in terms of clinical presentation, pathophysiology, diagnosis, classification, and treatment. SUMMARY OF LITERATURE REVIEW: ISCH is a rare disorder characterized by anterior displacement of the spinal cord through a ventral dural defect. It has increasingly been recognized and described over the past 10 years. MATERIALS AND METHODS: Review of the English-language literature on ISCH. RESULTS: ISCH occurs in middle-aged adults with a female preponderance. The most common clinical presentation is Brown-Sequard syndrome, which can progress to spastic paraparesis. Its pathophysiology is unknown. However, some authors proposed that inflammation may play an important role in the emergence of a dural defect. Magnetic resonance imaging typically shows an anterior kink of the thoracic spinal cord with an obliteration of the ventral subarachnoid space and the widened dorsal subarachnoid space. Surgery is generally recommended for patients with motor deficits or progressive neurological symptoms. The posterior approach has been used because it allows wide exposure of the spinal cord. The surgical treatment of ISCH consists of spinal cord reduction from the ventral dural defect, which can be managed with enlargement, direct repair, or duraplasty (dural repair with a patch). In recent years, duraplasty has been used more frequently than enlargement of the dural defect. CONCLUSIONS: ISCH causing thoracic myelopathy could be safely treated with surgical management. The possibility of this disease should be kept in mind when treating patients with progressive myelopathy.
Adult ; Brown-Sequard Syndrome ; Classification ; Diagnosis ; Female ; Humans ; Inflammation ; Magnetic Resonance Imaging ; Paraparesis, Spastic ; Spinal Cord Diseases ; Spinal Cord* ; Subarachnoid Space