Clinical Reasoning: An 8-Year-Old With Acute Onset Ataxia. 2022

John Robert McLaren, and Matthew Kyler Mitchell, and Fatima Mohamed Al-Maadid, and Kevin Joseph Staley
From the Department of Neurology (J.R.M., F.M.A.-M., K.J.S.), Massachusetts General Hospital, Harvard Medical School; and Harvard Medical School (M.K.M.), Boston, MA. jmclaren2@mgh.harvard.edu.

Acute ataxia is a common neurologic presentation in the pediatric population that carries a broad differential diagnosis. The tempo of the presentation, distribution of the ataxia (focal or diffuse), examination findings, and paraclinical testing may be helpful in guiding diagnosis and management. Although Guillain-Barré syndrome (GBS) and its variant, Miller Fisher syndrome (MFS), are well defined, frequently encountered acute autoimmune neuropathies, the GBS/MFS spectrum have at least 12 different phenotypes with distinct neurologic features, 4 of which include ataxia. These lesser-known variants can be diagnosed clinically, in the absence of conclusive laboratory or neuroimaging data, and should always be considered in an acute presentation of ataxia. In this article, we present a previously healthy 8-year-old with acute onset ataxia with associated hyporeflexia that occurred after resolution of a presumed viral infection. We discuss our approach to ataxia, the patient's neurodiagnostic odyssey, and highlight the final diagnosis of acute ataxic neuropathy without ophthalmoplegia-a rare incomplete MFS subtype. Owing to timely recognition of the condition, the patient was treated appropriately and recovered fully.

UI MeSH Term Description Entries
D009886 Ophthalmoplegia Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles. Oculomotor Paralysis,External Ophthalmoplegia,Internal Ophthalmoplegia,Ophthalmoparesis,External Ophthalmoplegias,Internal Ophthalmoplegias,Ophthalmopareses,Ophthalmoplegia, External,Ophthalmoplegia, Internal,Ophthalmoplegias,Ophthalmoplegias, External,Ophthalmoplegias, Internal,Paralysis, Oculomotor
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000086723 Clinical Reasoning Process by which clinicians collect signs and process information to understand the patient's medical situation or problem, and then plan and implement appropriate medical interventions. Clinical Judgement,Clinical Judgements,Judgement, Clinical,Judgements, Clinical,Reasoning, Clinical
D001259 Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions. Coordination Impairment,Dyssynergia,Incoordination,Ataxia, Appendicular,Ataxia, Limb,Ataxia, Motor,Ataxia, Sensory,Ataxia, Truncal,Ataxy,Dyscoordination,Lack of Coordination,Tremor, Rubral,Appendicular Ataxia,Appendicular Ataxias,Ataxias,Ataxias, Appendicular,Ataxias, Limb,Ataxias, Motor,Ataxias, Sensory,Ataxias, Truncal,Coordination Impairments,Coordination Lack,Impairment, Coordination,Impairments, Coordination,Incoordinations,Limb Ataxia,Limb Ataxias,Motor Ataxia,Motor Ataxias,Rubral Tremor,Rubral Tremors,Sensory Ataxia,Sensory Ataxias,Tremors, Rubral,Truncal Ataxia,Truncal Ataxias
D019846 Miller Fisher Syndrome A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8) Fisher Syndrome,Guillain Barre Syndrome, Miller Fisher Variant,Ophthalmoplegia, Ataxia and Areflexia Syndrome,Guillain-Barre Syndrome, Miller Fisher Variant,Miller Fisher Variant of Guillain Barre Syndrome,Miller-Fisher Syndrome,Syndrome, Fisher,Syndrome, Miller Fisher,Syndrome, Miller-Fisher
D020275 Guillain-Barre Syndrome An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314) Acute Autoimmune Neuropathy,Acute Inflammatory Demyelinating Polyradiculoneuropathy,Acute Inflammatory Polyneuropathy,Landry-Guillain-Barre Syndrome,Polyradiculoneuropathy, Acute Inflammatory,Acute Infectious Polyneuritis,Acute Inflammatory Demyelinating Polyneuropathy,Acute Inflammatory Polyradiculoneuropathy,Demyelinating Polyradiculoneuropathy, Acute Inflammatory,Guillain-Barre Syndrome, Familial,Guillain-Barré Syndrome,Guillaine-Barre Syndrome,Inflammatory Demyelinating Polyradiculoneuropathy, Acute,Inflammatory Polyneuropathy Acute,Polyneuropathy, Acute Inflammatory,Polyneuropathy, Inflammatory Demyelinating, Acute,Polyradiculoneuropathy, Acute Inflammatory Demyelinating,Acute Autoimmune Neuropathies,Acute Inflammatory Polyneuropathies,Acute Inflammatory Polyradiculoneuropathies,Autoimmune Neuropathies, Acute,Autoimmune Neuropathy, Acute,Familial Guillain-Barre Syndrome,Familial Guillain-Barre Syndromes,Guillain Barre Syndrome,Guillain Barre Syndrome, Familial,Guillain Barré Syndrome,Guillain-Barre Syndromes, Familial,Guillain-Barré Syndromes,Guillaine Barre Syndrome,Infectious Polyneuritis, Acute,Inflammatory Polyneuropathies, Acute,Inflammatory Polyneuropathy, Acute,Inflammatory Polyradiculoneuropathies, Acute,Landry Guillain Barre Syndrome,Neuropathy, Acute Autoimmune,Polyneuritis, Acute Infectious,Polyneuropathy Acute, Inflammatory,Polyradiculoneuropathies, Acute Inflammatory,Syndrome, Familial Guillain-Barre,Syndrome, Guillain-Barre,Syndrome, Guillain-Barré,Syndrome, Guillaine-Barre,Syndrome, Landry-Guillain-Barre

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