PEDBASE.org - The Pediatric Database - Detailed information of ATAXIC DISORDERS

ATAXIC DISORDERS

DEFINITION:

A group of disorders characterized by disturbances of gait and coordination.

EPIDEMIOLOGY:

incidence: ?
age of onset:
- infancy -> adolescence
risk factors:
- see differential diagnosis

DIFFERENTIAL DIAGNOSIS OF ACUTE ATAXIA:*

1. Trauma

hematoma (subdural, epidural)
postconcussion
vertebrobasilar occlusion

2. Toxic

alcohol
anticonvulsants (phenytoin, tegretol)
antihistamines
arsenic/lead/mercury
drugs - benzodiazepines, cyclosporin, isoniazid, nitrofurantoin vincristine

3. Postinfectious Immune

Acute Cerebellar Ataxia
Guillain-Barre Syndrome
Meningitis/Encephalitis
Miller-Fisher Syndrome
Multiple Sclerosis
Progressive Rubella Panencephalitis

4. Genetic

1. Inherited Disorders of Metabolism

Acute Intermittent Porphyria
Carnitine Acetyltransferase Deficiency
Hartnup's Disease
Maple Syrup Urine Disease
Pyruvate Decarboxylase Deficiency
Urea Cycle Disorders

5. Miscellaneous

1. Vascular Disorders

Henoch-Schoenlein Purpura - Lyme Disease
Kawasaki's Disease - SLE

2. Neoplastic

Brain Tumors
- Brain Stem Giomas, Medulloblastoma
Occult Neuroblastoma

3. Migraines

Basilar
Benign Paroxysmal Vertigo

4. Nutritional

Vitamin Deficiencies (B12, E)

5. Conversion Reaction

Note: no Primary causes of Acute Ataxia

DIFFERENTIAL DIAGNOSIS OF PROGRESSIVE ATAXIA:

1. Genetic

Ataxia-Ocular Motor Apraxia
Ataxia Telangiectasia
Friedreich's Ataxia
Harding Ataxia

2. Neurodegenerative Disorders

1. White Matter

Adrenoleukodystrophy
Alexander's Disease (Juvenile Form)
Canavan's Disease
Pelizaeus-Merzbacher Disease
Subacute Sclerosing Panencephalitis

2. Grey Matter

1. Progressive Myoclonus Epilepsies

MERRF/MELAS
Neuronal Ceroid Lipofusinosis
Sialidosis (Galactosialidosis)
Unverricht-Lundberg Disease

2. Rett Syndrome

3. Neurologic

Agenesis of the Corpus Callosum
Dandy Walker Malformation
Neurocutaneous Syndromes
- Neurofibromatosis
- Von Hippel-Lindau Disease (hemangioblastoma)
Posterior Fossa Tumors
Riley Day Syndrome

3. Metabolic

1. Lipid Storage Disorders

GM1 Gangliosidoses - II+III
Tay Sachs (Juvenile Form)
Sandhoff Disease (Juvenile Form)
Niemann-Pick Disease
Gaucher Disease
Metachromatic Leukodystrophy

2. MPS Storage Disorders

Sanfilippo A Syndrome

3. Others

Abetalipoproteinemia
Refsum's Syndrome
Sulfite Oxidase Deficiency

4. Hematologic

Chediak-Higashi Syndrome
Lymphomas (Hodgkin and Non-Hodgkin)
Meningococcemia

5. Miscellaneous

Hypothyroidism

CLINICAL FEATURES:

1. Ataxia Characteristics

1. Limb

2. Truncal

unable to sit or stand

3. Gait

wide based, lurching, staggering

2. Cerebellar Dysfunction Characteristics

asynergia - nystagmus
dysdiadochokinesia - rebound phenomenon
dysmetria (hypermetria, hypometria) - tremor - intentional
hypotonia - titubation
inability of discriminate weight - scanning speech

INVESTIGATIONS:

1. Serum

CBC, electrolytes, glucose, BUN, creatinine
serum lactate, pyruvate, ammonia, amino acids, lead
ANA, thyroid function tests, alpha-FP, CEA, karyotype,
immunoglobulins (IgE, IgA)
serology and blood cultures
glucose tolerance
drug screen, vitamins B12 and E

2. Urine

screen for amino acids, organic acids, drugs, mucopolysaccharides
mercury, porphyrin and porphobilinogen,

3. Lumbar Punture

meningitis, Guillain-Barre Syndrome

4. Imaging Studies

1. MRI/CT/PET

head, chest (occult neuroblastoma)
for tumors and trauma

2. Chest X-ray/2D Echo

hypertrophic cardiomyopathy (Friedreich's Ataxia)

5. Others

1. Electrodiagnostic

nerve conduction velocities, evoked potentials
EMG, EEG, ECG
ECG

2. Biopsy

liver

MANANGEMENT:

1. Supportive

no treatment for ataxia per se
treat underlying disorder

Pediatric Database - ATAXIC DISORDERS

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