Ataxia

1. Ataxia Prepared by:Manar Shawabkeh.M.D Supervisor : Afaf Areene.M.D

2. Outline: • Approach to the child with acute ataxia. • Acute cerebellar ataxia . • Friedreich ataxia. • Ataxia-telangiectasia

3. A previously healthy 22-month-old girl presented to the pediatric emergency department with complaints of worsening gait and progressive jerky movements of the upper and lower extremities for the past 10 days. • The patient developed cough and nasal congestion two weeks prior to this admission and was seen by her pediatrician.

4. She was diagnosed with bilateral otitis media and placed on 10 days of amoxicillin. • There was no history of fever, vomiting, diarrhea or generalized rash. • Three days later, the upper respiratory infection symptoms resolved but the mother noticed feet shaking and later shaking of her arms and strange movements of the eyes. • She was seen at another emergency department, requiring admission. • A computed tomography scan of the brain was negative.

5. With subsidence of symptoms and tests done on admission including complete blood count, electrolytes, liver enzymes and spinal tap being negative, the patient was discharged from the hospital after 96 hours with instructions to complete her course of antibiotics. • The gait worsened during the next 24 hours and the parents brought her to the hospital

6. In the ED, the patient was afebrile and had no nausea, vomiting, diarrhea or skin rash. She was unable to walk, stand without support or stand up from a sitting position. Her speech was dysarthric. She was extremely irritable and consolable only by her parents. • The parents denied any recent travel history, head injury, ingestion of canned food or honey or lead exposure risks.

7. Developmental milestones were appropriate for her age. She had completed her 10-day course of amoxicillin and was not on any chronic medications. • The girl’s history was up-to-date with her immunizations and she had no history of vaccination, nor any family history of consanguinity, epilepsy, convulsion disorder or any joint diseases.

8. On examination • the patient was alert, irritable and crying yet consolable by her mother. • She had persistent high blood pressures. • she was noted to have rapid, involuntary, multivectorial (horizontal and vertical), and unpredictable, conjugate fast eye movements intermixed with small amplitude movements, appearing as tiny deviations from primary position.

9. Her pupils were round and equally reactive to light. No photophobia was noted. The patient had an upper lip hemangioma since birth, no evidence of cafe-au-lait macules or ash leaf spots on skin. • Her heart and lung examinations were normal. • Neurological exam was limited in content of patient’s irritability. She had good muscle tone, hyper reflexic ankle jerks and negative Babinski reflex.

10. Following admission she had numerous episodes of gait unsteadiness and rolling of her eyes; each lasted for only a few seconds coupled with episodes of hypotonicity and hyporeflexia followed by complete recovery. • Dysmetria was clinically evident when she tried to reach out for toys and she was unable to sit or stand unsupported during these episodes. Between the episodes there was complete resolution of symptoms with normal physical examination and vital signs.

11. Toxicology screen was negative and CBC, basic metabolic panel, liver function tests and creatinine kinase were all within normal limits for age. Urine was negative for amino acids. • Urine culture for cytomegalovirus was negative • Lumbar tap performed at admission had normal cell count, glucose and protein. Culture for HSV type 1 and 2 Ig G, CMV IgG, Lyme, and myelin basic protein were conducted. Serum was negative result for monospot, rapid plasma reagin and varicella zoster virus.

12. Immunoglobulins G and M for VZV, HSV 1 and 2 and mycoplasma were within normal limits. • Lyme titer was positive on initial serology but with negative on Western blot confirmatory test. • C-reactive protein, erythrocyte sedimentation rate, were within normal limits.

14. CT scan of the brain was negative and magnetic resonance imaging of the brain with contrast was also negative with no meningeal enhancement. • Further studies were ordered to rule out neuroblastoma including 24 hour urine for vanillylmandelic acid, which was negative. MRI of the cervical spine and chest, and CT scans of the thorax, abdomen and pelvis were normal. Repeat lumbar tap was negative as well.

15. The patient remained afebrile and showed no meningeal manifestations throughout the hospitalization. • Only supportive care and close monitoring were provided during her hospitalization and her symptoms improved on the 10th day of admission.

16. The patient was discharged on the 15th day of admission to be followed by her pediatrician.. What do you think is the diagnosis?

17. Definition: • Ataxia : disturbance in the smooth, accurate coordination of movements. • It is most commonly manifested as an unsteady gait. • Ataxia is usually the result of cerebellar dysfunction. • Acute ataxia is an uncommon presenting complaint in children. • the majority of children have a benign, self-limited process .

18. Ataxia maybe acute or chronic. • Conditions that cause acute ataxia include: • acute infections. • post-infectious inflammatory conditions. • Toxins. • Tumors. • Trauma • 80 % of children with acute ataxia: acute cerebellar ataxia, a toxic ingestion, or Guillain-Barré syndrome

19. Recurrent ataxia : • migraine syndromes • Seizures • inborn errors of metabolism. • chronic or progressive ataxia : • congenital anomalies • degenerative diseases • hereditary ataxias.

20. Life-threatening conditions • Life-threatening causes of acute ataxia in children are fortunately uncommon. • For those conditions that create a mass effect, signs and symptoms of increased intracranial pressure are typically evident. • Etiologies include tumors, trauma, stroke, and infection.

21. Tumors • Of all childhood brain tumors, 60 % arise in the brainstem or cerebellum. • Hx & P/E • Acute decompensation can occur as the result of obstructive hydrocephalus, hemorrhage into the lesion, or edema. • opsoclonus-myoclonus.

22. Intracranial hemorrhage • Hemorrhage into the cerebellum or posterior fossa as the result of trauma or a vascular malformation can cause ataxia with dramatic, rapid deterioration and life-threatening elevation of intracranial pressure

23. Stroke • Acute ataxia may develop as the result of vertebral or basilar artery disease. • Conditions that cause cerebrovascular disease are rare in children and include sickle cell disease, hypercoagulable states, and homocystinuria

24. Infection • Life-threatening infectious processes that cause acute ataxia generally produce other symptoms as well. • Rarely, ataxia may be an early symptom of meningitis • Patients with inflammatory post-infectious conditions, such as (ADEM), may also develop ataxia.

25. Common conditions Acute cerebellar ataxia • is a self limited syndrome that is frequently postinfectious • typically seen in children between two and five yearsof age. • The diagnosis can only be made after exclusion of other more serious illnesses

26. Guillain-Barré syndrome (GBS) • result from a post-infectious immune-mediated process. • GBS predominantly affects motor nerves, sensory ataxia • The Miller-Fisher syndrome is a form of GBS classically characterized by the triad of ataxia, areflexia, and ophthalmoplegia

27. Labyrinthitis • Inflammation of the vestibular apparatus • Symptoms include hearing loss, vomiting, and intense vertigo exacerbated by head movements • Labyrinthitis may be difficult to distinguish from acute cerebellar ataxia in a toddler

28. Toxic exposure • 30 percent of cases of acute childhood ataxia. • Associated symptoms. • anticonvulsants,lead, carbon monoxide, inhalants, alcohol, benzodiazepines, and other drugs of abuse. • urine toxicology screens, specific blood tests.

29. Migraine syndromes: • Acute ataxia is a clinical feature of several migraine syndromes. • Associated symptoms such as headache and vomiting, episodic course.

30. Other conditions • Hypoglycemia • Seizure disorder • Conversion disorder • Inborn errors of metabolism • Congenital anomalies • Degenerative/genetic conditions

31. EVALUATION • History: • refusal to walk or with a wide-based, "drunken" gait. • Onset of symptoms • Associated symptoms • Otalgia, vertigo, and vomiting • An older child with inner ear disease may complain of dizziness. Most children also have nystagmus. • Recurrent night-time or early-morning headaches with or without vomiting • Personality and behavioral changes. • Abnormal mental status

32. Access to medications. • A history of head trauma ,neck trauma • Patients with a recent infection or vaccination • Previous similar episodes of acute ataxia. • Children with family members with ataxia

33. Physical examination • A systematic, yet flexible, approach to the physical examination is necessary to localize the source of the child's symptoms. • careful observation. • Abnormal vital signs must be recognized immediately. • Bulging of the anterior fontanel

34. An ipsilateral head tilt • fundoscopic examination • Nystagmus • Opsoclonus. • Otitis media and hearing loss in association with vomiting and intense vertigo • Meningismus with fever and a toxic appearance. • healing rash or viral exanthem

35. Neurologic examination • The neurologic examination includes specific examination techniques as well as observations made while taking the history and throughout the general physical examination • Mental status, Lethargy. • Cranial nerves . • Motor examination :"paretic" ataxia. • Sensory examination . • Cerebellar examination .

36. Cerebellar signs • Gait: typically wide-based, unsteady, lurching, or staggering. • speech : fluctuations in clarity, rhythm, tone, and volume. • coordination of voluntary movements :over- or under-shooting (best seen on finger-nose testing) and difficulty with rapid alternating movements (dysdiadochokinesia) • Hypotonia and tremor may also occur. • Patients may have difficulty maintaining truncal position (titubation).

37. Laboratory: • Toxicologic screen - A urine screen for drugs of abuse or blood for specific drug levels (as suggested by the history) may be the most useful diagnostic test for children with acute ataxia. • Blood glucose. • Metabolic evaluation - liver function tests, blood pH, CBC, quantitative amino acid determinations of blood and urine, serum lactate, pyruvate and ammonia levels, and urine organic acids.

38. Cerebrospinal fluid (CSF) examination - CSF should be obtained whenever there is concern for CNS infection, such as meningitis or encephalitis. • Moderate CSF protein elevation can occur in acute cerebellar ataxia, ADEM, and multiple sclerosis,GBS • Neuroimaging should be obtained before a lumbar puncture is performed when there is concern for increased intracranial pressure.

39. ALGORITHMIC APPROACH

41. Acute cerebellar ataxia

42. has been referred to in the literature as acute cerebellitis and cerebellar encephalitis • typically preceded by an acute febrile illness,Varicella is involved in over one-fourth of cases • following vaccination for varicella, hepatitis B and rabies, without evidence of systemic infection.

43. The pathogenesis of acute cerebellar ataxia has not been fully established, but appears to include autoimmune mechanisms • occurs in children under six years of age

44. characterized by the acute onset of ataxia four days to three weeks after the inciting illness • Gait disturbance is the primary symptom, but the cerebellar dysfunction may be limited to fine motor control problems or tremor . • Associated symptoms may include nystagmus , slurred or garbled speech, vomiting, dysarthria, or, in older children, headache • Fever, meningismus, and seizures are absent

45. Differential diagnosis • Toxic • Infectious • Structural • Metabolic • neurodegenerative

46. EVALUATION • exclusion of other potentially more serious illnesses. • History & Physical examination  . • Laboratory evaluation  • Imaging

47. PROGNOSIS • typically resolves without sequelae within two to three weeks of presentation. • If worsening of symptoms or relapse occurs, the diagnosis should be reconsidered and other causes of ataxia carefully excluded.

48. There are scattered case reports of treatment of refractory cases withglucocorticoid or intravenous immunoglobulin. • 10 % of children with acute cerebellar ataxia have some long-term neurologic sequelae • Older age at diagnosis and associated Epstein-Barr virus infection appear to confer a worse prognosis

49. Friedreich ataxia

50. autosomal recessive degenerative disorder • It is the most common hereditary ataxia, • It primarily affects the central nervous system, spinal cord, and peripheral nerves, as well as the heart and pancreas.