Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (CP). She had spasticity, particularly at both ankles, and gait disturbance. Magnetic resonance imaging of the brain revealed findings suspicious of sequelae from a previous insult, such as periventricular leukomalacia, leading to the diagnosis of CP. However, she had a history of hepatosplenomegaly when she was a fetus and her motor development had deteriorated, with symptoms of vertical supranuclear gaze palsy, cataplexy, and ataxia developing gradually. Therefore, NP-C was considered and confirmed with a genetic study, which showed mutation of the NPC1 gene. Thus, if a child with CP-like symptoms presents with a deteriorating course and NP-C-specific symptoms, NP-C should be cautiously considered.
Ankle ; Ataxia ; Brain ; Cataplexy ; Cerebral Palsy ; Child ; Child, Preschool ; Diagnosis ; Female ; Fetus ; Gait ; Humans ; Infant, Newborn ; Leukomalacia, Periventricular ; Magnetic Resonance Imaging ; Muscle Spasticity ; Niemann-Pick Diseases ; Paralysis

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, is a very rare neurodegenerative disorder characterized by the clinical triad of early onset cerebellar ataxia, pyramidal tract features, and sensorimotor polyneuropathy. Herein, we report a 35-year-old Korean male who presented with gait disturbance and lower extremity weakness. Neuroimaging and ophthalmologic evaluation revealed features consistent with ARSACS. Mutation in SACS gene was demonstrated in clinical exome sequence analysis and the patient was finally diagnosed as ARSACS.
Adult ; Ataxia ; Cerebellar Ataxia ; Exome ; Gait ; Humans ; Lower Extremity ; Male ; Muscle Spasticity ; Neurodegenerative Diseases ; Neuroimaging ; Polyneuropathies ; Pyramidal Tracts ; Sequence Analysis ; Spinocerebellar Degenerations

Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related problems have not been reported in patients with DRPLA. There was a 65-year-old man and his family with DRPLA. They suffered from seizure, gait disturbance, and cognitive decline. The patients commonly showed dream enacting sleep disorder, insomnia. The results from overnight polysomnography showed rapid eye movement (REM) without atonia in patients with DRPLA. The man died 2 years after diagnosis and was subjected for brain autopsy. We report REM sleep behavior disorders in patients with DRPLA confirmed with polysomnography with pathological description of the patient.
Aged ; Atrophy* ; Autopsy ; Brain ; Cerebellar Ataxia ; Diagnosis ; Dreams ; Gait ; Humans ; Mental Disorders ; Neurodegenerative Diseases ; Polysomnography ; Seizures ; Sleep Initiation and Maintenance Disorders ; Sleep Wake Disorders ; Sleep, REM

BACKGROUND AND OBJECTIVES: Controversy related to the choice of surgical approach for vestibular schwannoma (VS) resection remains. Whether the retrosigmoid (RS) or translabyrinthine (TL) approach should be performed is a matter of debate. In the context of a lack of clear evidence favoring one approach, we conducted a retrospective study to compare the morbidity rate of both surgical approaches. SUBJECTS AND METHODS: 168 patients underwent surgical treatment (2007-2013) for VS at our tertiary care center. There were no exclusion criteria. Patients were separated into two groups according to the surgical approach: TL group and RS group. Signs and symptoms including ataxia, headache, tinnitus, vertigo and cranial nerve injuries were recorded pre- and postoperatively. Surgical complications were analyzed. Perioperative facial nerve function was measured according to House-Brackmann grading system. RESULTS: Tumor resection was similar in both groups. Facial paresis was significantly greater in RS group patients preoperatively, in the immediate postoperative period and at one year follow-up (p < 0.05). A constant difference was found between both groups at all three periods (p=0.016). The evolution of proportion was not found to be different between both groups (p=0.942), revealing a similar rate of surgically related facial paresis. Higher rate of ataxic gait (p=0.019), tinnitus (p=0.039) and cranial nerve injuries (p=0.016) was found in RS group patients. The incidence of headache, vertigo, vascular complications, cerebrospinal fluid leak and meningitis was similar in both groups. No reported mortality in this series. CONCLUSIONS: Both approaches seem similar in terms of resection efficacy. However, according to our analysis, the TL approach is less morbid. Thus, for VS in which hearing preservation is not considered, TL approach is preferable.
Ataxia ; Cerebrospinal Fluid Leak ; Cranial Nerve Injuries ; Facial Nerve ; Facial Paralysis ; Follow-Up Studies ; Gait ; Headache ; Hearing ; Humans ; Incidence ; Meningitis ; Mortality ; Neuroma, Acoustic ; Postoperative Period ; Retrospective Studies ; Tertiary Care Centers ; Tinnitus ; Vertigo

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.
Ankle ; Ataxia ; Ataxia Telangiectasia* ; Child ; Child, Preschool ; Databases, Genetic ; Dysarthria ; Early Diagnosis ; Gait ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Insurance, Health ; Intellectual Disability ; Male ; Muscle Spasticity ; Neurodegenerative Diseases ; Prevalence* ; Republic of Korea* ; Spinocerebellar Degenerations

The brain necrosis induced by radiation therapy (RT) is an uncommon pathology of brain. A case of spontaneous hemorrhage at necrotic brain is also rare. A 52-year-old man who had nasopharyngeal carcinoma and had been treated with RT, presented with gait disturbance, dizziness, ataxia, dysarthria, and dysphagia. Magnetic resonance imaging (MRI) demonstrated progressed radiation necrosis of pons, and spontaneous hemorrhage at the site of necrosis. The hematoma was diminished by conservative treatment. However, the patient’s neurologic symptoms did not recover. Two years later, spontaneous bleeding recurred at necrotic brain. His neurologic symptoms worsened. One year later, his neurologic symptoms were more progressed. He showed severe dysphagia, profound weakness and respiratory failure. This case provides the description of relapsed spontaneous hemorrhage and medullary dysfunction caused by pontine necrosis and progressed post-radiation injury, complicated with hemorrhage, and urges caution in that the necrotic brain tissue may be vulnerable to bleeding.
Ataxia ; Brain ; Deglutition Disorders ; Dizziness ; Dysarthria ; Gait ; Hematoma ; Hemorrhage* ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Necrosis* ; Neurologic Manifestations ; Pathology ; Pons ; Respiratory Insufficiency

Wernicke's encephalopathy (WE) is a neurological disorder induced by a dietary vitamin B1 (thiamine) deficiency which is characterized by encephalopathy, gait ataxia, and variant ocular motor dysfunction. In addition to these classical signs of WE, a loss of the horizontal vestibulo-ocular reflex (VOR) is being reported as the major underdiagnosed symptoms in WE. In this retrospective single center study, we report four cases of WE initially presented with impaired horizontal VOR in addition to the classical clinical presentations, and imaging and neurotological laboratory findings were described.
Ataxia ; Brain Diseases ; Dizziness ; Gait Ataxia ; Nervous System Diseases ; Reflex ; Reflex, Vestibulo-Ocular ; Retrospective Studies ; Thiamine ; Wernicke Encephalopathy

BACKGROUND: Spontaneous subclavian artery dissection (SAD) is rare. Moreover, there are very few case reports which document spontaneous SAD accompanied by symptomatic neurological deficits related with ischemic stroke. CASE REPORT: A 71-year-old man without any reported history of trauma presented with left facial hypesthesia, left arm ataxia and gait disturbance, subsequently diagnosed as posterior circulation infarction affecting medulla and cerebellum. The computed tomography angiography revealed spontaneous left SAD with left vertebral artery occlusion, atherosclerotic plaque surrounding the origin of left subclavian artery and normal aortic vasculature. His neurological status did not deteriorate further after dual anti-platelet therapy, and intravenous hydration with volume expander were applied. CONCLUSIONS: This is an unusual case of spontaneous SAD with lateral medullary infarction as well as cerebellar infarction. Although spontaneous SAD is a distinctly rare disease entity, it should be considered in the differential diagnosis when multiple posterior circulation infarctions are observed.
Aged ; Angiography ; Arm ; Ataxia ; Cerebellum ; Cerebral Infarction ; Diagnosis, Differential ; Gait ; Humans ; Hypesthesia ; Infarction ; Plaque, Atherosclerotic ; Rare Diseases ; Stroke ; Subclavian Artery ; Vertebral Artery

Central pontine myelinolysis (CPM) is well-recognized osmotic demyelination syndrome that is related to various conditions such as rapid correction of hyponatremia and chronic alcoholism. Acute ataxia as a sole clinical sign in CPM is rare. We report a case of a 59-year-old man with dysarthria, intention tremor, and a significant gait ataxia starting after alcohol withdrawal, with radiological evidence of CPM. CPM should be included in the differential diagnosis of alcoholic patients who develop a sudden ataxia. Chronic alcohol abuse is one of the most commonly encountered predisposing factors. Alcohol withdrawal represents an additional vulnerability factor, being responsible for electrolyte imbalances which are not always demonstrable but are certainly involved in the development of CPM.
Alcoholics* ; Alcoholism ; Ataxia ; Causality ; Demyelinating Diseases ; Diagnosis, Differential ; Dysarthria ; Gait Ataxia ; Humans ; Hyponatremia ; Middle Aged ; Myelinolysis, Central Pontine* ; Tremor

Infected walled-off pancreatic necrosis (WOPN) is dangerous complication of acute pancreatitis. Open necrosectomy and post-operative irrigation of necrotic cavity have been conventional treatment for infected pancreatic necrosis, however, recently minimally invasive techniques such as endoscopic necrosectomy has been regarded as preferred treatment method for infected WOPN. Endoscopic necrosectomy provides a targeted approach with a reduction in the systemic inflammatory response and avoidance of wound complications. Non alcohol related Wernicke encephalopathy is rare disease caused by thiamine deficiency due to intravenous feeding, and presented an encephalopathy, oculomotor dysfunction, gait ataxia. We report herein a case of Wernicke encephalopathy after successful endoscopic necrosectomy for infected WOPN.
Gait Ataxia ; Necrosis ; Pancreatitis ; Pancreatitis, Acute Necrotizing* ; Parenteral Nutrition ; Rare Diseases ; Thiamine Deficiency ; Wernicke Encephalopathy* ; Wounds and Injuries