Acute combined central and peripheral nervous system demyelination: a case report / 고신대학교의과대학학술지

Guillain-Barré syndrome (GBS) and acute disseminated encephalomyelitis (ADEM) are demyelinating neurologic disorders with different target organs. Although they share similar pathogenetic mechanism, reports of simultaneous occurrence of the 2 disorders are rare. A 2 year 6 month old girl visited our hospital for fever, cough, and general weakness. Although the muscle power of extremities showed mild weakness and voiding difficulty, initial deep tendon reflex of both knees and ankles was normal. A nerve conduction study to evaluate the weakness revealed the absence of F waves. Cerebrospinal fluid analysis demonstrated pleocytosis with lymphocyte predominance and elevated protein levels. Magnetic resonance imaging showed abnormal T2 hyperintensity in pons, medulla and spinal cord. Serum anti-GD1b antibody was positive. Based on clinical findings, laboratory findings, nerve conduction study, and neuroimaging, the diagnosis of GBS and ADEM was made. This is the first case of GBS accompanied by ADEM in Korea.

Revisit Spinal Shock: Pattern of Reflex Evolution during Spinal Shock / 대한신경손상학회지

When the spinal cord is suddenly severed, all the fundamental functions of the spinal cord below the level of injury including the spinal cord reflexes are immediately depressed, which is referred to as spinal shock. The resolution of spinal shock occurs over a period of days to months, and spinal shock slowly transitions to spasticity. The definition of spinal shock and the pattern of reflex recovery or evolution remains as an issue of debate and controversy. The identification of clinical signs that determine the duration of spinal shock is controversial. The underlying mechanisms of spinal shock are also not clearly defined. Various authors have defined the termination of spinal shock as the appearance of the bulbocavernosus reflex, the recovery of deep tendon reflexes, or the return of reflexic detrusor activity. However, many questions remain to be answered, such as: When should we define spinal shock as the end? What types of reflexes appear first among polysynaptic cutaneous reflexes, monosynaptic deep tendon reflexes, and pathological reflexes? Should it include changes in autonomic reflexes such as a detrusor reflex?

Additional Surgical Method Aimed to Increase Distractive Force during Occipitocervical Stabilization : Technical Note

OBJECTIVE: Craniovertebral junctional anomalies constitute a technical challenge. Surgical opening of atlantoaxial joint region is a complex procedure especially in patients with nuchal deformity like basilar invagination. This region has actually very complicated anatomical and functional characteristics, including multiple joints providing extension, flexion, and wide rotation. In fact, it is also a bottleneck region where bones, neural structures, and blood vessels are located. Stabilization surgery regarding this region should consider the fact that the area exposes excessive and life-long stress due to complex movements and human posture. Therefore, all options should be considered for surgical stabilization, and they could be interchanged during the surgery, if required.METHODS: A 53-year-old male patient applied to outpatients’ clinic with complaints of head and neck pain persisting for a long time. Physical examination was normal except increased deep tendon reflexes. The patient was on long-term corticosteroid due to an allergic disease. Magnetic resonance imaging and computed tomography findings indicated basilar invagination and atlantoaxial dislocation. The patient underwent C0–C3–C4 (lateral mass) and additional C0–C2 (translaminar) stabilization surgery.RESULTS: In routine practice, the sites where rods are bound to occipital plates were placed as paramedian. Instead, we inserted lateral mass screw to the sites where occipital screws were inserted on the occipital plate, thereby creating a site where extra rod could be bound. When C2 translaminar screw is inserted, screw caps remain on the median plane, which makes them difficult to bind to contralateral system. These bind directly to occipital plate without any connection from this region to the contralateral system. Advantages of this technique include easy insertion of C2 translaminar screws, presence of increased screw sizes, and exclusion of pullout forces onto the screw from neck movements. Another advantage of the technique is the median placement of the rod; i.e., thick part of the occipital bone is in alignment with axial loading.CONCLUSION: We believe that this technique, which could be easily performed as adjuvant to classical stabilization surgery with no need for special screw and rod, may improve distraction force in patients with low bone density.

A Case of Acute Hemorrhagic Encephalomyelitis associated with Mycoplasma Pneumoniae Infection / 대한소아신경학회지

Acute hemorrhagic encephalomyelitis (AHEM) is a severe form of encephalitis characterized by fulminant clinical course and presence of hemorrhagic necrosis of the white matter. Mycoplasma pneumoniae (M. pneumoniae) have severe central nervous syndrome complication with encephalitis as that most common pediatric manifestations, but have been extremely rare report with AHME. A 10-year-old boy was referred to emergency room because of drowsy mental status, weakness of left side extremities and truncal ataxia. His deep tendon reflexes were hyperactive, neck stiffness sign and Babinski sign were both positive. Motor power were decreased on the both left upper and lower extremities. The sequences of T2-weighted and gradient recalled echo (GRE) showed hyper-intense lesions on multifocal white natter areas with hemorrhagic signal. Cerebrospinal fluid (CSF) analysis showed the pleocytosis with neutrophil dominant. The results of deoxyribonucleic acid (DNA) test and culture of M. pneumoniae were reported negative in CSF, but immunoglobulin M (IgM) was positive in blood. He received intravenous high dose corticosteroid and macrolide. After discharge, his neurologic function gradually returned to normal including sitting and standing without support. We reported the previously healthy boy with M. pneumonia related AHEM. The early diagnosis with brain MRI and the aggressive immunosuppressive treatment may be beneficial for recovery.

Additional Surgical Method Aimed to Increase Distractive Force during Occipitocervical Stabilization : Technical Note

OBJECTIVE: Craniovertebral junctional anomalies constitute a technical challenge. Surgical opening of atlantoaxial joint region is a complex procedure especially in patients with nuchal deformity like basilar invagination. This region has actually very complicated anatomical and functional characteristics, including multiple joints providing extension, flexion, and wide rotation. In fact, it is also a bottleneck region where bones, neural structures, and blood vessels are located. Stabilization surgery regarding this region should consider the fact that the area exposes excessive and life-long stress due to complex movements and human posture. Therefore, all options should be considered for surgical stabilization, and they could be interchanged during the surgery, if required. METHODS: A 53-year-old male patient applied to outpatients’ clinic with complaints of head and neck pain persisting for a long time. Physical examination was normal except increased deep tendon reflexes. The patient was on long-term corticosteroid due to an allergic disease. Magnetic resonance imaging and computed tomography findings indicated basilar invagination and atlantoaxial dislocation. The patient underwent C0–C3–C4 (lateral mass) and additional C0–C2 (translaminar) stabilization surgery. RESULTS: In routine practice, the sites where rods are bound to occipital plates were placed as paramedian. Instead, we inserted lateral mass screw to the sites where occipital screws were inserted on the occipital plate, thereby creating a site where extra rod could be bound. When C2 translaminar screw is inserted, screw caps remain on the median plane, which makes them difficult to bind to contralateral system. These bind directly to occipital plate without any connection from this region to the contralateral system. Advantages of this technique include easy insertion of C2 translaminar screws, presence of increased screw sizes, and exclusion of pullout forces onto the screw from neck movements. Another advantage of the technique is the median placement of the rod; i.e., thick part of the occipital bone is in alignment with axial loading. CONCLUSION: We believe that this technique, which could be easily performed as adjuvant to classical stabilization surgery with no need for special screw and rod, may improve distraction force in patients with low bone density.

Spinal cord infarction mimicking ischemic heart disease

Spinal cord infarction is a rare condition and is easily misdiagnosed owing to its initial non-specific manifestation. We report a case of a 77–year-old man who presented with chest pain and upper back pain initially, and was misdiagnosed with a myocardial infarction. Four hours after admission, he complained of numbness in his entire left leg below the knee, with rapid deterioration of neurological symptoms. After 9 hours, loss of sensation progressed up to the T4 dermatome, strength of both lower extremities deteriorated to grade 0, and decrease in anal tone and deep tendon reflex was observed. Initial magnetic resonance imaging findings were normal; however, a signal change occurred 3 days after symptom onset. When patients present with acute chest pain and neurologic symptoms, the possibility of ischemic cardiac disease as well as any neurological manifestations must be investigated. Emergency physicians must remember the value of serial physical examinations.

Epstein-Barr Virus Infection associated Transverse Myelitis with Brain Involvement in an Immunosuppressed Patient: A Case Report

A 19-year-old girl with immunosuppressive agents of tacrolimus and mychophenolate mofetil following liver transplantation due to glycogen storage disease visited hospital due to lower extremity motor weakness and blurred vision. Motor power was checked as grade II in the upper extremities and grade 0 in the lower extremities with absence of deep tendon reflexes and anal sphincter dysfunction. The magnetic resonance imaging (MRI) showed increased T2 high signal intensity lesions from C4 to L2 level of spinal cord, cerebral cortex, and the left optic nerve. The cerebrospinal fluid (CSF) analysis showed pleocytosis. Epstein-Barr virus (EBV) deoxyribonucleic acid (DNA) was detected as 5,954 copies/mL in CSF whereas all other microbiologic tests were negative. Anti-aquaporin 4 antibody and oligoclonal band were not detected. Intravenous immunoglobulin, methylprednisolone pulse therapy and 3-week course of acyclovir were administered. Although motor power in the upper extremities recovered to grade V, motor power in the lower extremities did not show any improvement. The EBV viral load was not detected in the follow-up CSF examination. EBV infection in an immune-compromised patient could cause extensive demyelinating diseases in central nervous system and result in severe disability.

Utility of Follow-up Diffusion Tensor Imaging in Acute Hemorrhagic Leukoencephalitis: a Case Report

Acute hemorrhagic leukoencephalitis (AHLE) is an acute, rapidly progressing, fulminant demyelinating disease. It is a rare disease of the central nervous system with high mortality; survivors commonly present with significant neurological deficit. We report the case of a 16-month-old girl who survived AHLE and presented with the associated neurologic deficit. The patient came into the emergency department with febrile seizure. She showed bilateral pinpoint-sized pupils and hyperactive deep tendon reflexes. Her mental status was initially drowsy and rapidly progressed to stupor. Extensive demyelination and microbleeds were found in the cerebral white matter, thalamus and left cerebellum on Magnetic resonance imaging (MRI) scans. Her mental status was improved by intravenous administration of immunoglobulin and methylprednisolone. Five months after being discharged, increased white matter connectivity was found on color-coded follow-up MR diffusion tensor imaging (DTI) as compared to previous MRI. We therefore suggest adding the DTI technique when a follow-up MRI is performed in patients with AHLE. It could be useful to visualize the status of axonal injury and to encourage patients and their parents to continue the rehabilitation program.

An Infant with Femoral Osteomyelitis Misdiagnosed as Lumbosacral Plexitis

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.

Utility of Follow-up Diffusion Tensor Imaging in Acute Hemorrhagic Leukoencephalitis: a Case Report

Acute hemorrhagic leukoencephalitis (AHLE) is an acute, rapidly progressing, fulminant demyelinating disease. It is a rare disease of the central nervous system with high mortality; survivors commonly present with significant neurological deficit. We report the case of a 16-month-old girl who survived AHLE and presented with the associated neurologic deficit. The patient came into the emergency department with febrile seizure. She showed bilateral pinpoint-sized pupils and hyperactive deep tendon reflexes. Her mental status was initially drowsy and rapidly progressed to stupor. Extensive demyelination and microbleeds were found in the cerebral white matter, thalamus and left cerebellum on Magnetic resonance imaging (MRI) scans. Her mental status was improved by intravenous administration of immunoglobulin and methylprednisolone. Five months after being discharged, increased white matter connectivity was found on color-coded follow-up MR diffusion tensor imaging (DTI) as compared to previous MRI. We therefore suggest adding the DTI technique when a follow-up MRI is performed in patients with AHLE. It could be useful to visualize the status of axonal injury and to encourage patients and their parents to continue the rehabilitation program.

An Infant with Femoral Osteomyelitis Misdiagnosed as Lumbosacral Plexitis

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.

Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature / 소아과

Guillain-Barré syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength of the lower extremities and deep tendon reflexes. MRI could not be carried out due to technical problems; therefore, both Guillain-Barré syndrome and acute transverse myelitis were considered for the diagnosis. Intravenous immunoglobulin treatment was started as first line therapy. Because this treatment did not relieve the patient's symptoms, spinal MRI was carried out on the fourth day of admission and demyelinating areas were identified. Based on the new findings, the patient was diagnosed with acute transverse myelitis, and high dose intravenous methylprednisolone therapy was started. Electromyography findings were consistent with acute polyneuropathy affecting both motor and sensory fibers. Therefore, the patient was diagnosed with concurrency of Guillain-Barré syndrome and acute transverse myelitis. Interestingly, while concurrency of these 2 disorders is rare, this association has been demonstrated in various recent publications. Progress in diagnostic tests (magnetic resonance imaging and electrophysiological examination studies) has enabled clinicians to establish the right diagnosis. The possibility of concurrent Guillain-Barré syndrome and acute transverse myelitis should be considered if recovery takes longer than anticipated.

Whiplash Injury

STUDY DESIGN: Review of the literature. OBJECTIVES: To present an overview of current research on whiplash injury. SUMMARY OF LITERATURE REVIEW: There are controversies over the definition, symptoms, and treatment of whiplash injury. MATERIALS AND METHODS: Review of the relevant literature. RESULTS: Symptoms of whiplash injury caused by an acceleration-deceleration force may present as widespread pain involving the neck or trapezius muscles, the interscapular area, the shoulders and arms, or as suboccipital headaches. Accompanying symptoms may include neurologic symptoms such as sensory dysfunction, motor weakness, or deep tendon reflex loss; non-specific symptoms such as dysphagia, dizziness, visual disturbances, tinnitus, deafness, memory loss, or temporo-mandibular joint disorders; and psychological symptoms such as depression, acute stress syndrome, or fear avoidance. The most important factor that facilitates spontaneous resolution of whiplash injury, which is a self-limiting disorder, has been shown to be prevention of the acute-to-chronic pain transition. Yet in spite of this knowledge the efficacy of several treatment methods for whiplash injury remains controversial. CONCLUSIONS: The appropriateness of treatment for whiplash injury should be evaluated on the basis of up to date academic research on its diagnosis and natural history.

Clinical Presentation of Cervical Myelopathy at C1-2 Level

STUDY DESIGN: Single-center retrospective study. PURPOSE: To clarify the clinical features of cervical myelopathy at the C1-2 level. OVERVIEW OF LITERATURE: Methods for distinguishing the affected level based on myelomere symptoms or dysfunction of the conducting pathway were established. However, no symptoms have been identified as being specific to the C1-2 level segment. METHODS: We evaluated 24 patients with cervical myelopathy due to spinal cord compression at the C1-2 level. Preoperative neurological assessment were investigated and compared with the rate and site of compression of the spinal cord using computed tomography-myelography. RESULTS: Impaired temperature and pain sensation were confirmed in 18 of the 24 patients with that localized to the upper arms (n=3), forearm (n=9), both (n=2), and whole body (n=4). Muscle weakness was observed in 18 patients, muscle weakness extended from the biceps brachii to the abductor digiti minimi in 10 patients, and in the whole body in 8 patients. Deep tendon reflexes were normal in 10 patients, whereas hyperactive deep tendon reflexes were noted in 14 patients. The rate of spinal cord compression was significantly higher in patients with perceptual dysfunction and muscle weakness compared with those with no dysfunction. However, no significant difference in the rate and site of compression was identified in those with dysfunction. CONCLUSIONS: Perceptual dysfunction and muscle weakness localized to the upper limbs was observed in 58% and 42% of patients, respectively. Neurological abnormalities, such as perceptual dysfunction and muscle weakness, were visualized in patients with marked compression.

Serotonin Syndrome after Clomipramine Overdose in a Child

Serotonin syndrome (SS) is a potentially life-threatening condition associated with increased serotonergic activity in central nervous system and may occur during the use of serotonergic drugs. Although increasing frequency of serotonergic drug use in children, pediatricians, emergency medicine and pediatric intensive care specialists have not enough knowledge and experience about SS that is a potentially life-threatening condition. A 12-year-old girl patient was admitted to our emergency room with the history of involuntary contractions on her extremities and alteration of consciousness. Her physical examination showed agitation, hyperthermia, dilated pupils, tremor, increased deep tendon reflexes, positive spontaneous clonus, agitation, flushed skin and diaphoresis, excessive perspiration, and continuous horizontal ocular movements. The patient diagnosed as SS by clinical history, physical and laboratory findings. In this paper, we will discuss SS occurred in a 12-year-old girl after concurrent clomipramine and risperidone use.

Acute Bilateral Mydriasis and Abducens Nerve Palsy with anti-GQ1b Antibody

Ophthalmoplegia without ataxia has various etiologies. An atypical Miller Fisher syndrome implies an ophthalmoplegia without ataxia, areflexia or both. The presence of anti-GQ1b antibody supports the diagnosis of an atypical Miller Fisher syndrome. A 4-year-old Russian girl visited our hospital because of acute bilateral abducens nerve palsy and mydriasis. Although the muscle power of extremities was normal and she didn't show an ataxia, the deep tendon reflex of both knees and ankles was absent. The results of nerve conduction study and cerebrospinal fluid analysis were normal. Magnetic resonance imaging (MRI) showed an enhancement of the bilateral abducens nerve. The anti-Gq1b antibody titer was elevated. The diagnosis of atypical Miller Fisher syndrome was made and a therapy with intravenous immunoglobulins led to the clinical recovery. We report a girl with atypical Miller Fisher syndrome with acute bilateral abducens nerve palsy and mydriasis, diagnosed by of anti-GQ1b antibody positivity.

A Case of Acute Inflammatory Demyelinating Polyradiculoneuropathy in a Patient with Systemic Lupus Erythematosus

Neuropsychiatric manifestations in patients with systemic lupus erythematosus are fairly common, with a prevalence of 37~95%. Among 19 neuropsychiatric manifestations, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is quite rare, and is characterized by progressive, symmetric muscle weakness accompanied by absent or depressed deep tendon reflexes. Generally, plasma exchange and intravenous immunoglobulin are the main treatment modalities. Here, we report a case of AIDP in a 29-year-old SLE patient, who was fully recovered with a treatment of high-dose glucocorticoid and immunosuppressive agents. Ours case suggests that AIDP should be treated differently in SLE patients to avoid disastrous results.

A Rare Case of Rapidly Progressive Severe Encephalitis Associated with Epstein-Barr Virus Infection

Epstein-Barr virus rarely causes encephalitis which has a benign outcome. About 90% of children have a benign clinical course without neurologic sequelae. However, 10% have residual persistent deficits and a mortality rate of up to 10% has also been reported. An 11-month-old boy was admitted after general weakness and poor oral intake. On day 7 of hospitalization, three vomiting episodes occurred and followed by a seizure. Brain T1-weighted magnetic resonance imaging (MRI) showed a hyperintensity with mild diffusion restriction in the cortex and subcortical white matter of the bilateral frontal, parietal, and occipital lobes. Analysis of a cerebrospinal fluid (CSF) sample revealed WBC count of 10 /microL (neutrophils 21%, lymphocytes 78%), red blood cell count of 19,000 /uL. CSF EBV polymerase chain reaction (PCR) was positive. Positive results were also obtained for serum EBV viral capsid antigen (VCA) IgM (>4 U/mL), IgG (>8 U/mL), EBV Ebstein Barr nuclear antigen (EBNA) IgG (>8 U/mL). Despite therapy with acyclovir, phenobarbital and steroids, a brain MRI conducted on day 34 showed extensive parenchymal volume atrophy and secondary ventricular dilatation, diffuse progressive signal change in the entire cerebrum and diffuse gyral enhancement in the entire cerebrum. The patient was discharged on day 129 and was transferred to other hospital. After 3month of discharge, the patient's mental status was still drowsy, both arms and legs showed rigidity, and deep tendon reflex were hyperactive. We report an 11-month-old child with rapidly progressive severe encephalitis associated with Epstein-Barr virus.

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed / Espectro clínico da ataxia cerebelar de início precoce com reflexos mantidos: uma ataxia autossômica recessiva para não ser esquecida

Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.

As ataxias cerebelares autossômicas recessivas são um grupo heterogêneo de doenças neurológicas. Em 1981, foi descrita uma entidade neurológica incluindo ataxia cerebelar progressiva de início precoce, disartria, liberação piramidal e manutenção ou aumento dos reflexos tendíneos nos membros superiores e inferiores. Essa síndrome é conhecida como ataxia cerebelar de início precoce com reflexos mantidos. Neste artigo, o objetivo foi chamar a atenção para o diagnóstico de ataxia cerebelar de início precoce com reflexos mantidos como a segunda causa mais comum de ataxia cerebelar autossômica recessiva, após a ataxia de Friedreich, e também realizar um estudo do espectro clínico da síndrome. Doze pacientes de diferentes famílias preencheram os critérios clínicos para ataxia cerebelar de início precoce com reflexos mantidos. Disartria e atrofia cerebelar foram as características mais frequentes. No entanto, não há consenso se a ataxia cerebelar de início precoce com reflexos mantidos é uma doença homogênea ou um grupo de síndromes com fenótipos semelhantes representadas por diferentes entidades genéticas. Estudos moleculares futuros são necessários para fornecer respostas definitivas para as questões pendentes em relação à ataxia cerebelar de início precoce com reflexos mantidos.