Ataxia cerebelosa aguda y COVID-19: presentación de un caso clínico

COVID-19 es una enfermedad viral principalmente respiratoria y/o gastrointestinal. Las manifestaciones neurológicas tienen una frecuencia variable en pediatría. Presentamos un varón de 10 años de edad, previamente sano, que presentó una ataxia cerebelosa durante un cuadro agudo de COVID-19. El SARS-CoV-2 fue detectado por hisopado nasofaríngeo por antígeno y RPC. El LCR fue normal y el cultivo bacteriológico y estudio viral fueron negativos. La TC y RM encefálica fueron normales. No requirió tratamiento específico y tuvo una evolución favorable, con resolución completa de los síntomas neurológicos al mes. Debe considerarse la infección por SARS-CoV-2 como un diagnóstico diferencial entre las causas de ataxia cerebelosa aguda, según la situación epidemiológica.

COVID-19 is a disease that mainly produces respiratory and/or gastrointestinal symptoms. Neurological manifestations occur with a variable frequency in children. We present a previously healthy 10-year-old boy who presented acute cerebellar ataxia during an acute COVID-19. SARS-CoV-2 was detected in a nasopharyngeal sample by antigen and PCR. The CSF was normal, the bacteriological culture and the viral PCR were negative. CT of the brain and gadolinium MRI of the brain were normal. He did not require specific treatment and had a favorable evolution, with complete resolution of neurological symptoms at one month. SARS-CoV-2 infection should be considered as a differential diagnosis between the causes of acute cerebellar ataxia, according to the epidemiological situation.

Cerebellar ataxia after a single day of metronidazole use: Case report

Cerebellar ataxic syndromes, although uncommon, have been reported previously in patients taking metronidazole. However, almost all cases describe instances where patients were taking prolonged or high doses of the drug. We report a 65-year-old man who consumed 400 mg of metronidazole 3 times over 1 day and presented with slurring of speech, imbalance while walking and diplopia. The symptoms developed the day after consumption of metronidazole. Examination showed slurring of speech, gaze-evoked nystagmus, and dysmetria in all limbs. MRI brain revealed symmetric hyperintense lesions in the dentate nucleus and pons on T2-weighted imaging and FLAIR, which have a well-established association with metronidazole-induced central nervous system (CNS) toxicity. On discontinuation of the drug, symptoms improved, and complete recovery was noted at follow-up 2 weeks later. This case indicates that CNS side effects of metronidazole may not necessarily occur only at high doses or after prolonged courses of metronidazole, but may occur as an idiosyncratic reaction to the drug. Reasons for variable susceptibility require further investigation.

Clinical Features and Mutation Analysis of Gordon Holmes Syndrome Associated with RNF216 Gene Mutation and a Literature Review / 罕见病研究

  Objective  To summarize the clinical characteristics and RNF216 gene mutation of a patient with Gordon Holmes syndrome (GHS), and to improve the understanding of the genetic and clinica characteristics of this disease through literature review.  Methods  We collected the clinical data of the patient with GHS, extracted the DNA from 2 mL peripheral venous blood of the patient and his parents for whole exome gene detection, and then we analyzed the clinical and genetic characteristics of all previously reported patients with RNF216 gene mutation.  Results  The young male patient was short in stature at sixyearsold and was diagnosed growth hormone deficiency.He had no secondary sexual characteristics by the age of 15 and was diagnosed hypogonadal hypogonadism.After the age of 22, he gradually developed abnormal gait and had progressive decline in speech, motor, and cognitive functions.Whole exome sequencing revealed a homozygous, nonsense mutation c.1549C>T (p.R517*) in the RNF216 gene.His parents were consanguineous and were heterozygous carriers of the mutations with phenotypic normality.Combined with literature review and this case report results showed that a total of 21 patients of the disease in the world and among them 15 had pathogenic variants of RNF216 gene mutation.7 of the 15 had truncated mutations, 5 had missense mutations, and 1 synonym mutation, 1 splice mutation, and 1 deletion mutation respectively.RNF216 gene mutation can be seen in neurodegenerative diseases with multiple overlapping symptoms of GHS, Huntington-like disease, and 4H syndrome.The main clinical manifestations are hypogonadotropic hypogonadism and early-onset progressive neurological dysfunction in adolescence or early adulthood.The median age of onset of neurological symptoms is 28 years old, featuring cerebellar ataxia, dysarthria, and cognitive impairment, as well as imaging manifestations of extensive white matter lesions and cerebellar atrophy.  Conclusions  The mutation of RNF216 gene can cause GHS.Genetic testing is helpful to the diagnosis and treatment of rare diseases.

Common and uncommon neuroimaging manifestations of ataxia: an illustrated guide for the trainee radiologist. Part 2 - neoplastic, congenital, degenerative, and hereditary diseases / Manifestações de neuroimagem comuns e incomuns na ataxia: um guia ilustrado para radiologistas em treinamento. Parte 2 - doenças neoplásicas, congênitas, degenerativas e hereditárias

Abstract Ataxia is defined as a lack of coordination of voluntary movement, caused by a variety of factors. Ataxia can be classified by the age at onset and type (chronic or acute). The causative lesions involve the cerebellum and cerebellar connections. The correct, appropriate use of neuroimaging, particularly magnetic resonance imaging, can make the diagnosis relatively straightforward and facilitate implementation of the appropriate clinical management. The purpose of this pictorial essay is to describe the imaging findings of ataxia, based on cases obtained from the archives of a tertiary care hospital, with a review of the most important findings. We also discuss and review the imaging aspects of neoplastic diseases, malformations, degenerative diseases, and hereditary diseases related to ataxia.

Resumo Ataxia é definida como uma síndrome de falta de coordenação dos músculos de movimentação voluntária. Vários fatores podem causar ataxias, as quais podem ser classificadas de acordo com a idade, tipo de evolução (crônica ou aguda), cujas lesões envolvem o cerebelo e as conexões cerebelares. Com o uso correto e apropriado da neuroimagem, particularmente da ressonância magnética, o diagnóstico pode ser relativamente direito e o manejo clínico pode ser implementado de maneira correta. O objetivo deste artigo é descrever os achados de imagem na síndrome atáxica a partir de casos recuperados do arquivo digital de um hospital terciário, com a revisão dos principais achados de imagem. Neste ensaio revisamos e discutimos os aspectos de imagem de doenças neoplásicas, malformações, doenças degenerativas e doenças hereditárias relacionadas à ataxia.

Common and uncommon neuroimaging manifestations of ataxia: an illustrated guide for the trainee radiologist. Part 1 - acquired diseases / Manifestações de neuroimagem comuns e incomuns na ataxia: um guia ilustrado para radiologistas em treinamento. Parte 1 - doenças adquiridas

Abstract Ataxia is defined as a lack of coordination of voluntary movement, caused by a variety of factors. Ataxia can be classified by the age at onset and type (chronic or acute). The causative lesions involve the cerebellum and cerebellar connections. The correct, appropriate use of neuroimaging, particularly magnetic resonance imaging, can make the diagnosis relatively accurate and facilitate implementation of the appropriate clinical management. The purpose of this pictorial essay is to describe the imaging findings of ataxia, based on cases obtained from the archives of a tertiary care hospital, with a review of the most important findings. We also review and discuss the imaging aspects of infectious, toxic, vascular, and inflammatory diseases.

Resumo Ataxia é definida como uma síndrome de falta de coordenação dos músculos de movimentação voluntária. Vários fatores podem causar ataxias, os quais podem ser classificados de acordo com a idade, tipo de evolução (crônica ou aguda), cujas lesões envolvem o cerebelo e as conexões cerebelares. Com o uso correto e apropriado da neuroimagem, particularmente da ressonância magnética, o diagnóstico pode ser relativamente preciso e o manejo clínico pode ser implementado de maneira correta. O objetivo deste artigo é descrever os achados de imagem na síndrome atáxica com base em casos recuperados do arquivo digital de um hospital terciário, com a revisão dos principais achados de imagem. Neste ensaio revisamos e discutimos os aspectos imagem de doenças infecciosas, tóxicas, vasculares e inflamatórias.

Potpourri of retinopathies in rare eye disease – A case series

This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric and adult retinopathies. Two patients had Kearns Sayre syndrome (KSS) based on the classical triad of external ophthalmoplegia, pigmentary retinopathy, and onset before 20 years of age. In one patient of KSS, the mitochondrial retinopathy was seen in an asymmetric pattern, and the second patient presented with KSS after being mis-diagnosed as myasthenia gravis elsewhere. A case of Senior Loken syndrome in pediatric age is described in this series with varied ophthalmic manifestations ranging from retinitis pigmentosa to orbital abscess. This series also enlightens features of Hallervorden Spatz syndrome presenting with bull’s eye maculopathy and a case of spino-cerebellar ataxia type 7 presenting with pigmentary retinopathy.

A case of subclinical hypothyroidism with cerebellar ataxia

Hypothyroidism is a common condition, the symptoms and signs of which vary with the duration and magnitude of thyroid hormone deficiency. Hypothyroidism can have rare neurologic problems such as reversible cerebellar ataxia. Subclinical hypothyroidism refers to biochemical evidence of thyroid hormone deficiency in patients who have few or no apparent clinical features of hypothyroidism. Here, we present a case of a 70-year-old woman with complaints of giddiness and unsteadiness of 6 months’ duration. Subsequent evaluation revealed titubation, broad-based reeling gait, and dysarthria. A MRI of the brain showed diffuse moderate cerebral atrophy with periventricular ischemic white matter changes and normal cerebellum. Further investigations revealed evidence of subclinical hypothyroidism. The patient was started on oral thyroxine supplements with a relief of symptoms following 3 weeks after the initiation of treatment and a complete recovery from symptoms after about 3 months of the initiation of treatment. The association of cerebellar involvement at the stage of subclinical hypothyroidism is a rare finding, making the case academically interesting.

Generalised Myoclonus and Cerebellar Ataxia Associated with COVID-19 : A Case Report

COVID-19 pandemic is a Global burden to Public Health. An array of Neurological Manifestations have been reported to be associated with COVID-19 like Anosmia, Cerebrovascular accident, Meningitis, Encephalitis, Seizures, Guillain-Barré Syndrome (GBS), Acute Disseminated Encephalomyelitis (ADEM) etc. Generalised Myoclonus and Cerebellar Ataxia, is a less common Neurological Manifestation when compared to others. Here, we report a case of Generalized Myoclonus and Cerebellar Ataxia following COVID-19 infection. The possible mechanisms of Myoclonus and Ataxia following COVID-19 are also discussed

Cerebellar cognitive affective syndrome due to cerebellar atrophy: case report / Síndrome cerebelar cognitivo-afetiva secundária à atrofia cerebelar: relato de caso

Cerebellar atrophy is a rare and challenging disease with few descriptions in the medical literature. Motor impairment is mild, but behavioral and linguistic alterations stand out, in what is known as the cerebellar cognitive affective syndrome secondary to cerebellar atrophy. We report the case of an older woman with early-onset (age 45) signs and symptoms of this syndrome, including impairment of executive functions and visuospatial cognition, personality changes, and language deficits, who was followed at a geriatric medical center for 14 years. Neuropsychological, imaging, and behavioral aspects during this period are discussed in light of scientific evidence. This case report contributes to the scientific literature by describing the progression of the signs and symptoms of cerebellar atrophy over the years, which can help guide medical management and support advice for patients and their families.

A atrofia cerebelar é uma doença rara, desafiadora e com poucas descrições na literatura médica. O prejuízo motor é discreto, mas as alterações comportamentais e de linguagem se destacam, caracterizando a síndrome cognitivo-afetiva cerebelar secundária à atrofia cerebelar. Apresentamos o relato de caso de uma paciente idosa, que apresentou sinais e sintomas dessa síndrome precocemente (aos 45 anos de idade) ­ tais como déficits na função executiva, prejuízo visuoespacial, alterações de personalidade e déficits de linguagem ­ e foi acompanhada em um centro médico geriátrico por um período de 14 anos. Aspectos neuropsicológicos, de imagem e comportamentais durante esse período são comentados à luz das evidências científicas. O caso relatado contribui com a literatura científica ao descrever a evolução dos sinais e sintomas da atrofia cerebelar ao longo dos anos, balizando as condutas médicas e amparando as orientações ao paciente e seus familiares.

A case report of hereditary spastic paraplegia type 58 / 中华神经科杂志

Hereditary spastic paraplegia type 58 is rare, caused by pathogenic variations in KIF1C gene. Here, a case diagnosed in Qilu Hospital, Shandong University, was reported. The 15-year-old female suffered tremor in bilateral upper limbs which was aggravated gradually since age 8. Cerebellar ataxia, positive pyramidal tract sign and dystonic tremor were prominent on physical examination. The brain magnetic resonance imaging showed T 2-hyperintense signals in bilateral pyramidal tracts, optic radiations and superior cerebellar peduncles, with mild cerebellar atrophy. Whole exon sequencing revealed the unreported homozygous c.425_426delTG (p.V142Gfs*10) mutation which was presumed pathogenic.

Spinocerebellar ataxia type 11: a case report / 中华神经科杂志

Spinocerebellar ataxia (SCA) is a group of highly heterogeneous autosomal dominant genetic disease, including many subtypes. SCA11 is a rare subtype of SCA, and is caused by mutant TTBK2 gene. A case of SCA11 was reported in this article. Whole exome sequencing showed that there was a c.1284dupA frameshift mutation in TTBK2 gene. Literature review found that only 6 pedigrees of SCA11 have been reported, but the mutation site of this case is a novel identified mutation that has not been reported in the Human Gene Mutation Database.

Autoimmune cerebellar ataxia with positive anti-Homer3 antibody: a case report and literature review / 中华神经科杂志

Autoimmune cerebellar ataxia (ACA) is a cerebellar syndrome mediated by autoimmune mechanisms, and ACA with positive anti-Homer3 antibody is very rare. This article reports a 55-year-old male patient admitted to Qilu Hospital, Shandong University, due to dizziness and walking instability for 22 days. The serum and cerebrospinal fluid showed positive results for anti-Homer3 antibody, and the symptoms improved after intravenous immunoglobulin combined with hormone therapy. Based on the review of the case data and relevant literature reports, the pathogenesis, clinical manifestations, auxiliary examination, treatment and prognosis of ACA with positive anti-Homer3 antibody are analyzed, so as to deepen the understanding of clinicians and improve the diagnosis and treatment level.

Research progress on cerebellar ataxia, neuropathy, vestibular areflexia syndrome / 中华神经科杂志

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is an autosomal recessive hereditary disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibulopathy. Recently a biallelic intronic AAGGG repeat expansion in the replication factor C1 (RFC1) gene was identified as the cause of this disorder. Clinical studies of genetically-confirmed CANVAS in the past 2 years have significantly expanded the clinical phenotype of the disease and the concept of RFC1-related disease was proposed. The clinical manifestations, characteristic auxiliary examination, genetic changes of CANVAS were reviewed and the new diagnostic criteria to improve clinicians′ awareness of the disease was discussed in this paper.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome with replication factor C subunit 1 gene mutation: a case report and literature review / 中华神经科杂志

Objective:To investigate the clinical and genetic characteristics of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with replication factor C subunit 1 (RFC1) gene mutation to improve the understanding of this disease.Methods:A case of CANVAS diagnosed in the Peking University Third Hospital in January 2021 was reported. Detailed genetic analyses of ataxia were performed with DNA extracted from the peripheral blood of the patient. Studies including pathogenic variants of RFC1 gene causing CANVAS were reviewed and the clinical and genetic characteristics of the disease were summarized.Results:The patient was a 51-year-old female with the prominent manifestation of progressive walking instability. And the clinical data met the diagnostic criteria of CANVAS. The genetic tests excluded other hereditary ataxia mutations and identified the biallelic expansion of the pathogenic variant structure (AAGGG)exp repeat amplification in RFC1 gene. A total of 14 studies on CANVAS with RFC1 gene mutation were reviewed. The overall mutation rate of RFC1 gene in CANVAS was 68%-100%, and it varied in sporadic and familial CANVAS. And the mutation had ethnic differences.Conclusions:Among adult patients with late-onset ataxia, the combination of brain magnetic resonance imaging, electrophysiology tests and vestibular function examination is beneficial to the identification of CANVAS. And the genetic test of RFC1 gene has significant value in the diagnosis of this disease. This patient with CANVAS expands the disease spectrum of ataxia in China, and confirms that RFC1 gene mutation is of great significance in the screening of ataxia disorders in the Chinese population.

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3 / Nistagmo pode ser o primeiro sinal neurológico nos estágios precoces da ataxia espinocerebelar tipo 3

Abstract Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment. Objective: To investigate the presence of nystagmus as an early neurological manifestation, before ataxia, in some patients with SCA3 in the first six months of the disease. Methods: We evaluated a series of 155 patients with clinically and molecularly proven SCA3 between 2013 and 2020. Data regarding sex, age, age at onset, disease duration, CAG repeat expansion length, first symptom, presence of ataxia, scores on SARA and ICARS scales, and presence and characteristics of nystagmus were collected. Results: We identified seven patients with symptomatic SCA3 who presented with isolated nystagmus. In these seven individuals the age at onset ranged from 24 to 57 years, and disease duration from four to six months. Conclusions: Our study showed that nystagmus may be the first neurological sign in SCA3. This clinical observation reinforces the idea that the neurodegenerative process in SCA3 patients may start in vestibular system connections or in flocculonodular lobe. This study adds relevant information about pre-symptomatic features in SCA3 that may work as basis for a better understanding of brain degeneration and for future therapeutic clinical trials.

RESUMO Antecedentes: A ataxia espinocerebelar tipo 3 (SCA3) é a ataxia espinocerebelar de herança autossômica dominante mais comum em todo o mundo. Quase todos os pacientes com SCA3 têm nistagmo e/ou comprometimento das sácades. Objetivo: Investigar a presença de nistagmo como manifestação neurológica precoce, antes do surgimento da ataxia, em alguns pacientes com SCA3 nos primeiros seis meses de doença. Métodos: Foram avaliados 155 pacientes com diagnóstico clínico e molecular de SCA3, entre 2013 e 2020, em relação a sexo, idade, idade de início, duração da doença, expansão da repetição CAG, primeiro sintoma, presença de ataxia, pontuações nas escalas SARA e ICARS, e presença e caracterização de nistagmo. Resultados: Identificamos sete pacientes com SCA3 que apresentavam nistagmo isolado. A idade de início da doença nesses pacientes variou de 24 a 57 anos e a duração da doença variou de quatro a seis meses. Conclusões: O nosso estudo mostrou que o nistagmo pode ser o primeiro sinal neurológico na SCA3. Essa observação clínica reforça a ideia de que o processo neurodegenerativo nos pacientes com SCA3 pode se iniciar nas conexões do sistema vestibular ou no lobo floculonodular. Este estudo adiciona informações relevantes sobre características pré-sintomáticas na SCA3 e que podem servir de base para melhor entendimento da degeneração cerebral e para futuras terapias.

Progress in clinical phenotype and pathogenesis of neuroimmunological diseases associtated with anti-glutamic acid decarboxylase antibody / 中华神经科杂志

Antibodies to glutamic acid decarboxylase (GAD) have been associated with several neurological syndromes, including stiff-person syndrome, cerebellar ataxia and epilepsy. This article critically reviews the main clinical characteristics and the evidence on the pathogenicity of GAD antibodies.

Anti-metabotropic glutamate receptor 1 antibodies associated encephalitis: a case report / 中华神经科杂志

Objective:To establish a tissue based assay and in-house cell based assay combined system to screen anti-metabotropic glutamate receptor 1 antibodies in a case of previously idiopathic encephalitis with prominent cerebellar ataxia and make the final diagnosis, and to summarize and analyze clinical characteristics and treatment response of the disease.Methods:A middle-aged woman admitted to Department of Neurology, People's Liberation Army General Hospical Accredited to the Sixth Medical Center in January 9, 2020, who presented with acute dizziness, unsteady gait and developed head titubation, repeated language and calculation impairment was reported. The patient′s serum and cerebrospinal fluid were firstly tested with commercial kits for conventional neural antibodies.Then samples were incubated with rat hippocampus, cerebellum and human embryonic kidney 293 cells transfected with metabotropic glutamate receptor 1 plasmid to screen extra antibodies by indirect immunofluorescence method. By reviewing literature, physical functions of metabotropic glutamate receptor 1 and clinical features of anti-metabotropic glutamate receptor 1 antibodies associated encephalitis were summarized.Results:The patient was neural antibodies negative with commercial kits. Further investigation showed neuropil staining pattern after her serum and cerebral spinal fluid were incubated with rat brain slices. The characteristic "Medusa head" staining pattern of Purkinje cells in cerebellum was also noticed. Along with her previous head titubation symptom, an in-house cell based assay using human embryonic kidney 293 cells transfected with metabotropic glutamate receptor 1 plasmid was developed and proved the existence of anti-metabotropic glutamate receptor 1 antibodies. The final diagnosis of anti-metabotropic glutamate receptor 1 antibodies associated encephalitis was made. One-year follow-up revealed her serum antibodies titers dramatically decreased and cerebrospinal fluid antibodies were negative after using steroids and intravenous immunoglobulin, but still left prominent cerebellum atrophy and severe ataxia.Conclusions:Anti-metabotropic glutamate receptor 1 antibodies may cause acute encephalitis. Cerebellar ataxia and head titubation are characteristic symptoms of metabotropic glutamate receptor 1 autoimmunity. The response to immunotherapies is limited and patients may have severe neurological deficits.

Effects of Short-term Intensive Rehabilitation in Patients with Ambulatory Spinocerebellar Degeneration：Total Score and Sub-score Change of Scale for the Assessment and Rating of Ataxia / The Japanese Journal of Rehabilitation Medicine

Objective：The purpose of this study was to evaluate the effectiveness of a four-week short-term intensive rehabilitation on ataxia in patients with ambulatory spinocerebellar degeneration (SCD), using the Scale for the Assessment and Rating of Ataxia (SARA) total score and sub-score.Methods：This study included 23 SCD patients；we considered those with a SARA gait score of＜3 points. Our program included a one-hour training session with individualized instructions and a one-hour self-balance training session. Additionally, occupational or speech-language-hearing therapy was performed for one hour daily. Our program was conducted five days weekly for four weeks. We assessed the SARA total score and sub-score findings immediately, before the first and after the last interventions.Results：The SARA total, gait, stance, and heel-shin scores showed more significant improvement after intervention than before intervention (p＜0.05). The other SARA sub-scores were not significantly different between “before and after” interventions.Conclusion：The four-week short-term intensive rehabilitation on ataxia in patients with ambulatory spinocerebellar degeneration improved the SARA total score and ataxia of the trunk and lower limbs.

Ataxia telangiectasia: a diagnostic challenge. case report

ABSTRACT Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. The following is the case of a patient who presented with the aforementioned characteristics and had an adequate response to the established medical treatment. Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebellar ataxia, frequent respiratory infections and ocular telangiectasias. Symptoms were associated with elevation of alpha fetoprotein and immunodeficiency, which allowed for a diagnosis of AT and the initiation of a timely interdisciplinary treatment. Conclusion: AT is a chromosomal instability syndrome with characteristic signs and symptoms. It is essential to know the etiopathogenesis, clinical manifestations, diagnostic criteria, and therapeutic options, emphasizing that early detection and clinical suspicion could favor the proper management of the comorbidities and improve the progressive course of the disease.

RESUMEN Introducción. La ataxia-telangiectasia (AT) es un síndrome neurodegenerativo con baja incidencia y prevalencia mundial que es causado por una mutación del gen ATM, es de herencia autosómica recesiva y se asocia a mecanismos defectuosos en la regeneración y reparación del ADN. Este síndrome se caracteriza por la presencia de ataxia cerebelosa progresiva, movimientos oculares anormales, telangiectasias oculocutáneas e inmunodeficiencia. El diagnóstico oportuno de la AT es muy importante para poder iniciar un manejo interdisciplinario temprano, mejorar la sintomatología aguda y controlar las múltiples comorbilidades que causa. A continuación se presenta el caso de una paciente con las características clásicas de esta enfermedad y una adecuada respuesta y evolución al manejo médico instaurado. Presentación de caso. Paciente femenina de 7 años de edad, procedente de Bogotá, quien presentó cuadro clínico inicial de retraso global del neurodesarrollo, ataxia cerebelosa, infecciones respiratorias frecuentes y telangiectasias oculares. La sintomatología se asoció a elevación de alfa fetoproteína e inmunodeficiencia, lo que permitió plantear el diagnóstico de AT e iniciar de manera oportuna el manejo interdisciplinario. Conclusión. La AT es un síndrome de inestabilidad cromosómica con signos clínicos y síntomas característicos, por lo que es primordial conocer la etiopatogenia, el cuadro clínico, los criterios diagnósticos y las propuestas terapéuticas, pues la detección y la sospecha clínica temprana pueden favorecer el manejo precoz de las diferentes comorbilidades y mejorar el curso progresivo.

A case report of leukoencephalopathy with vanishing white matter disease

Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood leucoencephalopathies. Childhood ataxia and diffuse central nervous system hypomyelination are the common findings. The disease is characterized by chronic progressive and episodic deterioration with ataxia, spasticity and optic atrophy. VWM is caused by mutation in any of the five genes encoding the subunits of eukaryotic translation initiation factor eIF2B. The disease has an autosomal recessive mode of inheritance. The cause of the disease is unknown. Authors are reporting an 8 year old male child presented with complaint of difficulty while walking since one month and history viral fever was present one month back. MRI revealed bilateral symmetrical periventricular T2 hyperintensities with T1 hypointensities. Perivenular sparing was seen and molecular analysis shown eIF2B4 mutations confirmation of vanishing white matter disease. No specific treatment is available and advised to avoid stress and triggers.