What Causes Ataxia?

Patient Presentation
A 33-month-old male was transferred to the inpatient unit with difficulty walking. One month ago he has Influenza A and one week ago he had diarrhea. Just before bed on the night before he seemed to walk a little funny but his maternal aunt thought that he was just tired. In the morning, the aunt saw that he was truly having problems walking and would fall backwards. He also seemed very fussy. He was taken to the local emergency room where his complete blood count, C-reactive protein, electrolytes, liver function tests, amylase and lipase, rapid strep test, urine toxicology screen and a head computed tomogram were negative. He was transferred to the regional children’s hospital for further evaluation. The past medical history was positive for otitis medias and colds. He received appropriate health supervision visits and had been developing normally. The review of systems was negative for rash, fever, with no changes in level of consciousness, and bowel or bladder. He was now refusing to eat and drink.

The pertinent physical exam showed a fussy toddler with normal vital signs including blood pressure. His neurological examination showed significant ataxia with walking including a wide-based gait. When standing he had problems catching himself, would lean backwards and fall. He had truncal ataxia with sitting. There was normal vision, hearing and sensation. His DTR were +2 and he had normal strength. The work-up included an extended urine toxicology screen that was negative. His head magnetic resonance imaging and a lumbar puncture were normal. The diagnosis of acute cerebellar ataxia most likely due to a viral infection was made. Over the next few days, the patient was able to eat and drink more and became steadier on his feet. He was discharged and followed up with his local physician at one week who reported that he was able to sit and walk normally, but still would fall if he tried to run. At a followup neurology appointment at one month, his examination was normal. Infectious disease studies of the cerebral spinal fluid were unable to identify an organism.

Discussion

Coordination and balance problems are caused by various problems affecting the central and peripheral nervous system. Normal development of a child or weakness of a child are commonly mistaken for true ataxia. Ataxia specifically refers to “…impairment of the coordination of movement without loss of muscle strength.” If it is purely due to abnormalities of the cerebellum then there should be no changes in mental status, sensation or weakness. Sometimes it is difficult to determine if there are abnormalities in other areas. For example, Guillian-Barre often presents with difficulty or clumsy walking. Sometimes can be difficult with an uncooperative or scared young child to determine if there are sensation changes or weakness particularly early in the disease process. Therefore the child may be misclassified as having ataxia.

Acute cerebellar ataxia was first described in 1868 by Shepherd. It has an acute onset that is usually followed by a complete recovery and good long-term prognosis. It is thought to be caused by an transient para- or post-infectious process but has not been specifically identified. Organisms that have been associated with acute cerebellar ataxia include:

    • Bacterial
      • Bordetella pertussis
      • Streptococcus, group A beta-hemolytic
      • Legionella
      • Mycoplasma
    • Viral
      • Epstein-Barr virus
      • Influenza
      • Hepatitis A and B
      • Herpes simplex
      • Measles
      • Mumps
      • Parvovirus B19
      • Polio
      • Varicella

Patients present with acute ataxia with gross and fine motor problems. Resolution is within days to a few weeks but a small number of patients do have permanent problems.
Treatment is supportive with watchful waiting. Physical therapy may help patients to cope with the symptoms.

Learning Point
The differential diagnosis of ataxia includes:

  • Acute
    • Acute cerebellar ataxia
    • Drug reaction, intoxication including lead
    • Encephalomyelitis, postinfectious
    • Head trauma – concussion, subdural hematoma
    • Hydrocephalus
    • Hysteria
    • Metabolic abnormalities – hypoglycemia, hypothyroidism
    • Meningitis (usually does not present solely with ataxia)
    • Tumor – posterior fossa
    • Labyrinthitis
    • Stroke
    • Weakness (mistaken for ataxia)
  • Chronic
    • Abetalipoproteinemia
    • Ataxia-telangectasia
    • Congenital anomalies of cerebellum
    • Friedrich’s ataxia
    • Hydrocephalus
    • Leigh’s syndrome (subacute necrotizing encephalopathy)
    • Tumor – posterior fossa

Questions for Further Discussion
1. What are indications for consultation with a neurologist for ataxia?
2. What are indications for neuroimaging with ataxia?
3. How does opsiclonus-myoclonus present?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Acute Cerebellar Ataxia

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Illingworth RS. Common Symptoms of Disease in Children. Blackwell Scientific Publications: Oxford. 1988:17-19.

Fleisher GR, Ludwig S. Synopsis of Pediatric Emergency Medicine. Williams and Wilkins. Baltimore, MD. 1996:49-52.

Fogel BL. Childhood cerebellar ataxia. J Child Neurol. 2012 Sep;27(9):1138-45.

Desai J, Mitchell WG. Acute cerebellar ataxia, acute cerebellitis, and opsoclonus-myoclonus syndrome. J Child Neurol. 2012 Nov;27(11):1482-8.

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • How do Gifted Children Present?

    Patient Presentation
    An 8-year-old male came to clinic for his health supervision visit. His parents had no specific health related questions but they had questions about his schooling. He had taken a national test for 3rd grade students in the fall and he had qualified for the school’s gifted and talented program for the next year. The parents wanted to know if this was a good idea or “if this is just going to make him different from all the other kids.” The past medical history noted that he had been an early talker and reader and would play with plastic building blocks for hours never following the package instructions and making his own creations. His parents said he wore them out by asking “why?” all the time. The family history showed that the parents had finished college doing so on a part-time basis because of financial constraints. The father also was taking distance-learning classes.

    The pertinent physical exam revealed a healthy male with normal growth and vital signs. The diagnosis of a healthy male was made. The pediatrician said that the boy’s test scores seemed to be confirming what the parents probably already knew: that he was a talented individual who wanted to delve deeper into the world around him and learn more about it. He noted that this was what gifted and talented education programs are supposed to do is to provide for the needs of gifted students who can learn at a faster pace and deeper level compared to their peers. He also suggested that the parents set up a meeting with the program’s teacher to learn more about how it could benefit their son. As far as making him different, the pediatrician noted that this is a common myth that the children are very different than their peers socially. In most schools, children are moved between different groups and classrooms all the time to help meet the needs of all the children. Again, talking with the teacher to understand how this occurs in his school probably would be helpful. The pediatrician said, “It can be overwhelming sometimes to parent a gifted or talented child. It helps to learn more about it, so I’ll write down a couple of Internet websites where you can start to get more information. There are probably a few other parents in the school that you can talk with too. I also recommend that you take him to the library regularly. He’s old enough to look up information about what is interesting him and learn more about it. The librarian and you can guide him but he can do most of it. Plus the library is free to use.”

    Discussion
    One of the problems with understanding giftedness is the definition. The National Association of Gifted Children uses the following comprehensive definition:

      Gifted individuals are those who demonstrate outstanding levels of aptitude (defined as an exceptional ability to reason and learn) or competence (documented performance or achievement in top 10% or rarer) in one or more domains. Domains include any structured area of activity with its own symbol system (e.g., mathematics, music, language) and/or set of sensorimotor skills (e.g., painting, dance, sports).

    The United States Federal government uses a narrower, more educationally-focused definition:

      The term gifted and talented student means children and youths who give evidence of higher performance capability in such areas as intellectual, creative, artistic, or leadership capacity, or in specific academic fields, and who require services or activities not ordinarily provided by the schools in order to develop such capabilities fully.”

    To complicate the matter further, each state in the United States there is a different definition again primarily used for education.

    Data supports giftedness as genetic but also with ambition and opportunity being important factors in the long-term accomplishments of gifted individuals. Individuals can be identified early in life but variability of presentation is common and each child will not show giftedness in all areas. Some children will show their giftedness early and others may be late bloomers revealing their promise in adolescence. Individuals may also be gifted and have other learning disabilities or developmental or behavioral/psychiatric problems and are often referred to as “twice-exceptional.” These individuals may not be identified as gifted because their problems mask the giftedness. Conversely, the giftedness may mask their problems.

    For gifted children, encouraging their specific strengths and talents helps these children excel. For twice-exceptional individuals, supporting the problems while encouraging the giftedness provides the best opportunities for them to excel too. There are several common myths about gifted children including that academic acceleration is bad for gifted students when it should be considered for many individuals and there are rating scales to help with these decisions. Another myth is that many gifted individuals have psychiatric disorders when most are well adjusted children and adolescents.

    Learning Point
    Gifted children can present in a number of ways including:

    • Asynchrony across developmental domains
    • Advanced language and reasoning skills
    • Conversations and interests more aligned with older children and adults
    • Impressive long-term memory
    • Intuitive understanding of concepts
    • Ability to hold problems in mind that are not yet figured out
    • Insatiable curiosity
    • Advanced ability to connect disparate ideas, and appreciate relationships
    • Rapid learning
    • Heightened sensitivity and intensity of feelings and emotions
    • Perfectionism
    • Moral sensitivity
    • Advanced humor for age
    • Pleasure in solving and posing new problems
    • Capacity for independent, self-directed activities
    • Talents in specific areas (e.g. drawing, games, math, music, reading)

    Questions for Further Discussion
    1. How does your local school district accommodate gifted children in the classroom?
    2. What local resources are available to identify and assist gifted children and their families in your area?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for these topics: Family Issues and School Health.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    To view videos related to this topic check YouTube Videos.

    Pfeiffer SI. The gifted: clinical challenges for child psychiatry. J Am Acad Child Adolesc Psychiatry. 2009 Aug;48(8):787-90.

    Lubinski D. Exceptional cognitive ability: the phenotype. Behav Genet. 2009 Jul;39(4):350-8.


    Liu YH, Lien J, Kafka T, Stein MT. Discovering gifted children in pediatric practice. J Dev Behav Pediatr. 2010 Apr;31(3 Suppl):S64-7.

    National Association for Gifted Children. Redefining Giftedness for a New Century: Shifting the Paradigm. Available from the Internet at http://www.nagc.org/index.aspx?id=6404 (rev. 2010, cited 2/4/14).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Interpersonal and Communication Skills
    18. Using effective nonverbal, explanatory, questioning, and writing skills, the healthcare professional uses effective listening skills and elicits and provides information.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • What Are Complications of Fractures?

    Patient Presentation
    A 14-year-old female came to clinic with right foot pain. The pain began approximately 5 months earlier after a fall on ice. Radiographs at that time were negative. Since that time, there usually was no pain, but pain would return and increase with more activity. Over the past 2 weeks, she began recreational league soccer practices and would have pain that initially occurred at the end of practice and now occurs when she begins running at the beginning of practice. She also complains that it is more painful when she is going up stairs or just at the end of a regular day. She denies any other trauma. The review of systems was negative.

    The pertinent physical exam revealed a healthy female with normal vital signs and growth parameters. Her extremity examination revealed pain over the proximal 5th metatarsal with palpation and also with supination and flexion of the foot. There was no erythema, bruising or edema. There was no other point tenderness and range of motion was normal in ankle and toes. The radiologic evaluation showed the diagnosis of a fracture of the proximal 5th metatarsal. The family was told by the pediatrician that this could represent a new fracture, one that hadn’t healed or a refracture and therefore the fracture may require surgical intervention. Orthopaedics was consulted and recommended a weight-bearing boot be placed for the next 3 weeks after which they would re-evaluate the patient.

    Case Image

    Figure 110 – AP and oblique radiographs of the left foot demonstrate 2 corticated fragments at the base of the fifth metatarsal, felt to represent a non-united chronic fracture.

    Discussion
    Fifth metatarsal fractures are a common fracture of the foot and are the most common metatarsal fracture in children > 5 years of age and adults. There is a peak age distribution in the second and fifth decades of life. Teenage boys in organized sports are one of the most common groups affected. In acute fractures, acute pain and inability to walk are common presentations, whereas in a stress fracture an increase in activity, or chronic repetitive forces are at play. Fifth metatarsal fractures have various classifications. Fracture locations from proximal to distal include avulsion fractures (a common acute fracture because of torque forces in the proximal diaphysis), Jones fracture, metaphyseal fractures (common location for stress fractures) and neck and head fractures. The Jones fracture is a specific type of 5th metatarsal fracture first described in 1902 by Sir Robert Jones. He described it in his own foot after dancing and in 4 other patients. It occurs at the diaphyseal-metaphyseal interface which has a watershed blood supply and therefore is prone to delayed or non-union fractures.

    Treatment for 5th metatarsal fractures varies and includes non-operative management such as wraps, casts, boots, hard soled shoes with or without weight bearing and also electromagnetic field treatment or ultrasound. Operative management is usually by screw fixation, but also by tension band wiring and/or bone grafts. The prognosis is good overall for these fractures. Depending on several factors (including the initial treatment) and the end point used (i.e. clinical fracture union, return to sports) treatment may take weeks to months.

    has been described as the “incomplete healing of a fracture where the cortices of the bone fragments do not reconnect.” Some people will also use the term delayed union. Malunion is a fracture that has healed with a deformity such as rotation, angulation or an incongruent joint surface. Common reasons for malunion include poor blood supply, poor bone fixation (i.e. too much movement) or apposition (i.e. fragments are too far away from each other), behaviors (e.g. smoking, excessive alcohol ingestion, and noncompliance with treatment) and underlying medical problems. Medications may impair healing of fractures. Certain body sites are more common for nonunion because of poor blood supply including the fifth metatarsal, tibia, hamate and scaphoid bones.

    Learning Point
    Fracture complications include:

    • Acute
      • Injuries to adjacent structures
        • Arterial
        • Nerve
        • Other organs
      • Compartment syndrome
      • Fracture blisters of the skin
      • Fat embolism
      • Open fracture
      • Thromboembolic disease
    • Chronic
      • Arthritis, post-traumatic
      • Complex regional pain syndrome
      • Delayed union
      • Malunion
      • Osteomyelitis
    • Life-threatening
      • Hemorrhage
      • Rhabdomyolysis
      • Thromboembolic disease

    Questions for Further Discussion
    1. How does the presence of a wound or bone infection affect the risk for delayed or of fractures?

    2. What are indications for orthopaedic consultation?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for these topics: Fractures and Foot Injuries and Disorders.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    To view videos related to this topic check YouTube Videos.

    Zwitser EW, Breederveld RS. Fractures of the fifth metatarsal; diagnosis and treatment. Injury. 2010 Jun;41(6):555-62.

    Roche AJ, Calder JD. Treatment and return to sport following a Jones fracture of the fifth metatarsal: a systematic review. Knee Surg Sports Traumatol Arthrosc. 2013 Jun;21(6):1307-15.

    Howe, AS. General Principles of Fracture Management: Early and Late Complications. UpToDate. Rev. 1/21/2014, cited 2/3/2014.

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    6. Information technology to support patient care decisions and patient education is used.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital