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Ataxias of Childhood ATAXIAS OF CHILDHOOD Jayaprakash A. Gosalakkal, MD, FAAP BACKGROUND– This review examines the causes of ataxias in children. It is a relatively common manifestation of neurological diseases in children. The etiology of ataxia covers a broad range, from infections to rare hereditary metabolic diseases. A systematic approach is required to make the correct diagnosis. REVIEW SUMMARY– The more common causes of ataxias in children are discussed in detail. The importance of recognizing potentially reversible conditions such as vitamin E deficiency and Refsum’s disease is stressed. Recent advances in molecular genetics of some of the chronic ataxias are discussed. The importance of categorizing diseases based on the duration of symptoms and associated signs is discussed. Treatment options are mentioned. CONCLUSION– Ataxia is a common mode of presentation of cerebellar, posterior column, and vestibular disease in children. Awareness of the spectrum of disease entities that cause ataxia in childhood may lead to better diagnosis. KEY WORDS ataxia, cerebellar, childhood (THE NEUROLOGIST 7:300–306, 2001) The term ataxia refers to a special disorder of movement tected early in life in conditions such as Dejerine-Sottas resulting from lesions of the cerebellum or spinocerebellar disease by the ability to correct posture with eyes open but tracts. The disorders, which result in ataxia in children, are not with eyes closed. somewhat different from those in adults. Signs of ataxia in children may be detected as early as the first year of life. This ACUTE AND ACUTE EPISODIC ATAXIA is especially apparent when the child sits down and reaches for objects. Ataxias of childhood can be categorized initially Infectious and Postinfectious by ascertaining the following: 1) whether this is an acute, Acute cerebellar ataxia in children most often follows an acute recurrent, or chronic disorder; 2) if chronic, whether it infectious process. Varicella-zoster virus infection is most a progressive or static disorder; and 3) whether this is a often implicated. Other viruses can produce a similar picture symptom of cerebellar, posterior column, or vestibular dys- [Epstein-Barr virus (1), Coxsackievirus, and other enterovi- function. ruses, etc.]. The onset is sudden and can occur immediately In adolescents, the manifestations of cerebellar ataxia are or as late as 6 weeks after the viral illness. Cerebrospinal fluid similar to those in adults and are associated with other signs examination may show mild pleocytosis. The course is usu- of cerebellar dysfunction (dysdiadochokinesis, dyssynergia, ally benign (2). Complications can sometimes rise because of etc.). The diagnosis may be more difficult in younger chil- cerebellar swelling, with development of obstructive hydro- dren, and care must be taken before ascribing minor prob- cephalus (3–6). If there are other neurological signs, imaging lems of gait and stance to cerebellar disorders. Sensory ataxia should be obtained to evaluate for strokes and mass lesions. in older children can be detected as in adults when Romberg sign is present. Severe sensory ataxia can sometimes be de- Drugs From the Department of Pediatric Neurology, New York University A number of drugs can cause acute ataxia, often associ- Medical Center, New York, New York. ated with nystagmus, drowsiness, and vomiting. Intoxication Send reprint requests to Jayaprakash A Gosalakkal, 545 First Avenue, with benzodiazepines, barbiturates, phenytoin, phenothia- Apartment 2-O, New York, NY 10016. E-mail [email protected] zines, and carbamazepines are well known to cause ataxia. 300 V OL.7/NO .5/SEPTEMBER 2001 THE N EUROLOGIST 301 Vascular Causes provoked by movement and startle, missense mutations in a potassium channel gene KCNA1 have been found. Patients Basilar migraine, vascular occlusions, malformations aris- with EA2, another form of paroxysmal ataxia, carry muta- ing from vertebral or basilar arteries, and cerebellar hemato- tions of the gene encoding for the ␣1A voltage-dependent mas can cause ataxia. Asymmetrical ataxia is present on the calcium channel subunit CACNA1A that are predicted to side of unilateral cerebellar involvement. result in truncated channel proteins (12). Episodic ataxia responds to acetazolamide. Miller-Fisher Syndrome The Gullain-Barre´ syndrome and its variants can manifest CONDITIONS THAT MAY BE ASSOCIATED WITH as acute ataxia in children. On closer examination, other ACUTE ATAXIA manifestations such as muscle weakness, hypotonia, and areflexia are usually present. Cerebrospinal fluid examination Opsoclonus-Myoclonus syndrome will show elevated protein with normal cell count. The GQ1 This syndrome of dancing eyes, acute incordination, and antibody test is positive in the Miller-Fisher variant. muscle jerks may be associated with acute ataxia. It is impor- tant to recognize this syndrome, as it may be associated with Posterior Fossa Tumors and Abscess neuroblastoma (13). Opsoclonus-myoclonus may sometimes be associated with varicella and other viral infections and More than 50% of the brain tumors in childhood occur sometimes may be idiopathic. The prognosis ranges from in the posterior fossa (7). Posterior fossa tumors, including complete recovery to persistence for several years and seems cerebellar astrocytoma, brain stem glioma, and medulloblas- independent of etiology. This syndrome may persist after toma, can present with acute ataxia (8). There may be evi- removal of the neuroblastoma. Patients may respond to ad- renocorticotropic hormone or prednisone therapy. Acute cerebellar ataxia in children Chronic Progressive Ataxias of Childhood most often follows an infectious Chronic progressive ataxias may be hereditary or ac- quired. Ataxia is rarely an isolated manifestation of hereditary process. metabolic disease. The prototype of hereditary ataxia is Frie- dreich ataxia. Other conditions include ataxia-telengectasia, dence of increased intracranial pressure. The prognosis for vitamin E deficiency, abetalipoproteinemia, Refsum’s dis- these childhood tumors has improved greatly in recent times ease, and late infantile and juvenile sphingolipidosis with early diagnosis and treatment (9). Thus, it is imperative to get imaging studies in suspicious cases. Friedreich Ataxia Friedrich ataxia is a trinucleotide repeat disorder that is Episodic Ataxias inherited in an autosomal-recessive manner. The trinucle- Recurrent episodic ataxia in childhood may be a mani- otide repeat is GAA, and most patients have a range of 600 to festation of a number of hereditary metabolic disorders (10). 900 repeats. The gene is localized to chromosome 9q (14) The ataxia may be precipitated by an acute infection or and regulates the synthesis of a protein called fraxitin. When during recovery. There may be associated lethargy and vom- direct molecular testing became available for Friedreich iting. Some of the better known examples are maple syrup ataxia, up to 10% of patients who did not fulfill the criteria for urine disease, Hartnup disease, and Leigh disease. Several Friedreich ataxia tested positive (15). Friedreich ataxia is the other lesser known aminoacidopathies and organic acidemias most frequently inherited ataxia in Caucasians. also may present with acute ataxia. Most commonly, the onset of Friedreich ataxia occurs at the beginning of puberty (16), but earlier as well as later onset has been reported. Progressive unrelenting ataxia with mixed Hereditary Episodic Ataxia cerebellar and sensory features is the cardinal feature of this This disease is inherited in an autosomal-dominant man- disease. Truncal ataxia is usually the first symptom, followed ner and is characterized by paroxysmal bouts of ataxia, dys- by incordination, dysmetria, and intention tremor. A pro- arthria, and nystagmus. Ataxia is often severe. Between epi- gressive dysarthria appears soon after onset (17). Muscular sodes, electroencephalograms, caloric testing of vestibular weakness is common and progressive. There is an axonal function, and serum chemistry are normal (11). Cerebellar sensory neuropathy resulting in sensory loss and loss of deep vermian atrophy has been reported in long-standing cases. tendon reflexes. Loss of tendon reflexes was considered es- Hereditary episodic ataxia is now classified into two groups sential for the diagnosis in the past; however, it recently has and is the result of mutations of genes that code for ion been noticed that a minority of patients may have preserved channels. In EA1, a disease characterized by episodes of ataxia and even exaggerated tendon reflexes (18). The plantar re- 302 T HE N EUROLOGIST A TAXIAS OF C HILDHOOD flexes are extensor because of involvement of the pyramidal of the large myelinated fibers of the posterior columns and tract. Extensor plantar responses were in the past considered spinocerebellar tracts. Fat-soluble vitamins should be supple- essential to make the diagnosis (19). It now is known that mented. exceptions to these rules can occur. Position and vibration sensations are reduced. Optic atrophy occurs in 30% of Vitamin E Deficiency patients (20). Sensorineural hearing loss occurs in 20% of patients. Friedreich considered degeneration of the posterior Vitamin E deficiency is an important cause of ataxia, column as the cardinal pathological feature. Other patholog- peripheral neuropathy, or both. In most cases, it is caused by ical changes in the nervous system include degeneration of malabsorption. An isolated ataxia with vitamin E deficiency the dorsal root ganglion and corticospinal and spinocerebellar
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