You will be presented with 8 clinical scenarios of children with ataxia.
For each, interpret the clinical and diagnostic data and provide: 1) Diagnosis, 2) Any other test, 3) What to do next, 4) Follow-up plan.
Case 1
A 4-year-old child presents with acute truncal ataxia, nystagmus, and vomiting. Symptoms began 2 weeks after a viral URI. Afebrile, alert.
WBC
6.5 × 10³/µL (normal)
ESR
12 mm/hr (normal)
CRP
0.3 mg/dL (normal)
MRI Brain
Normal
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Acute post-infectious cerebellar ataxia – most common acute ataxia in children (3-5 years). Post-viral (varicella, EBV, enterovirus). Self-limited.
• Any other test: CSF for lymphocytic pleocytosis, Urine toxicology (to rule out ingestion), serum glucose, ammonia, lactate (metabolic screen). Consider viral serologies (if not already).
• What to do next: Supportive care (hydration, physical therapy). No specific treatment. If opsoclonus/myoclonus present, evaluate for neuroblastoma.
• Follow-up plan: Clinical improvement over weeks. If worsens or fails to improve after 2-3 weeks, repeat MRI to rule out tumor/demyelination.
Case 2
A 10-year-old child with progressive ataxia, frequent falls, and slurred speech for 2 years. Exam: areflexia, extensor plantars, pes cavus, scoliosis.
WBC
5.0 × 10³/µL (normal)
ESR
10 mm/hr (normal)
Echocardiogram
Mild hypertrophic cardiomyopathy
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Friedreich ataxia – autosomal recessive, GAA trinucleotide repeat in FXN (frataxin). Progressive ataxia, areflexia, extensor plantars, cardiomyopathy, pes cavus, scoliosis.
• Any other test:Nerve Conduction for Sensory axonal neuropathy, absent sensory potentials, Genetic Testing gor GAA repeat expansion in FXN gene (homozygous) , Fasting glucose/diabetes screening, cardiac MRI (if echocardiogram abnormal), audiometry, bone density (osteoporosis).
• What to do next: Multidisciplinary care: cardiology (monitor cardiomyopathy), endocrinology (diabetes), PT/OT, speech therapy. Start coenzyme Q10 and vitamin E (limited evidence).
• Follow-up plan: Annual cardiac evaluation (ECG, echo), glucose monitoring. Genetic counseling for family. Prognosis: wheelchair by teens, death from cardiomyopathy.
Case 3
A 6-year-old child with progressive ataxia, Head Thrusts, Reading/Focusing Trouble, and conjunctival telangiectasias. Recurrent sinopulmonary infections.
WBC
4.0 × 10³/µL (normal-low)
IgA
30 mg/dL (low, normal 50-250)
200 ng/mL (, normal <20)
MRI Brain
Cerebellar atrophy
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Ataxia-telangiectasia (ATM gene) – progressive ataxia, oculomotor apraxia, telangiectasias, IgA deficiency, elevated AFP, increased cancer risk.
• Any other test: elevated Alpha-fetoprotein (AFP), ATM genetic testing, immunoglobulin panel (IgG, IgM, IgE), lymphocyte subsets, chromosomal breakage studies, chest CT (if recurrent infections).
• What to do next: Avoid radiation (X-rays, CT scans) due to cancer risk. Treat sinopulmonary infections aggressively. IVIG if severe infections. Physiotherapy for ataxia.
• Follow-up plan: Surveillance for malignancies (lymphoma, leukemia). Annual AFP monitoring (can rise with age). Genetic counseling. Prognosis: progressive neurologic decline.
Case 4
A 12-year-old child with recurrent episodes of ataxia, vertigo, and nystagmus lasting 2-6 hours. Episodes triggered by stress and exercise. Normal exam between episodes.
WBC
5.5 × 10³/µL (normal)
ESR
8 mm/hr (normal)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Episodic ataxia type 2 (EA2) – CACNA1A mutation. Episodes of ataxia, vertigo, nystagmus lasting hours. Interictal exam normal. Responsive to acetazolamide.
• Any other test: MRI Brain for Mild cerebellar vermian atrophy, Genetic Testing for CACNA1A mutation , Consider EEG (if seizures suspected).
• What to do next: Start acetazolamide (5-10 mg/kg/day) – reduces frequency and severity. Avoid triggers (stress, exercise).
• Follow-up plan: Monitor response to acetazolamide. Genetic counseling. Prognosis: good response to treatment, but may develop progressive cerebellar atrophy.
Case 5
A 2-year-old child with acute ataxia, dancing eyes, myoclonic jerks, and irritability. No fever, no known illness.
WBC
7.0 × 10³/µL (normal)
ESR
15 mm/hr (normal)
CRP
0.2 mg/dL (normal)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Opsoclonus-myoclonus-ataxia syndrome (OMAS) – paraneoplastic neuroblastoma in 50% of young children. Urine catecholamines elevated.
• Any other test: Elevated Urine VMA/HVA, Chest/Abdomen MRI for paravertebral mass (neuroblastoma), MIBG scan (functional imaging for neuroblastoma), bone marrow biopsy, biopsy of mass for pathology, CSF (may show oligoclonal bands).
• What to do next: Oncology referral. Treat neuroblastoma (surgery ± chemotherapy). Immunotherapy for OMAS: steroids, IVIG, rituximab.
• Follow-up plan: Monitor neurologic improvement (may be protracted). Long-term cognitive/behavioral follow-up. Cancer surveillance.
Case 6
A 14-year-old child with progressive ataxia, Slurred, mumbled, or choppy speech, abnormal movments, , and behavioral changes.
WBC
4.8 × 10³/µL (normal)
AST/ALT
Mildly elevated
Ceruloplasmin
10 mg/dL (low, normal 20-40)
, normal <40)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Wilson disease – autosomal recessive copper accumulation (ATP7B). Neurologic: ataxia, dystonia, dysarthria, behavioral changes. Kayser-Fleischer rings.
• Any other test:slit-lamp exam for Kayser-Fleischer rings ,24h Urinary Copper, MRI Brain , Genetic testing (ATP7B), liver biopsy (if diagnosis uncertain), slit-lamp exam (Kayser-Fleischer rings).
• What to do next: Start copper chelation (trientine or D-penicillamine) or zinc acetate. Low copper diet. Monitor urinary copper and neurologic status.
• Follow-up plan: Lifelong treatment. Monitor liver function, neurologic exam, serum ceruloplasmin/24h copper. Genetic counseling for siblings. Liver transplant if fulminant failure.
Case 7
A 5-year-old child with episodic ataxia, seizures, and developmental delay. Symptoms improve with meals.
WBC
6.0 × 10³/µL (normal)
CSF Glucose
30 mg/dL (low, plasma glucose 90 mg/dL)
CSF Lactate
Normal
MRI Brain
Normal
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: GLUT1 deficiency syndrome – impaired glucose transport into brain (SLC2A1). Episodic ataxia, seizures, developmental delay, low CSF glucose (hypoglycorrhachia).
• Any other test: Genetic Testing for SLC2A1 mutation , CSF-to-plasma glucose ratio (<0.4), CSF lactate (normal/low), serum glucose, genetic confirmation (SLC2A1).
• What to do next: Start ketogenic diet (high fat, low carbohydrate) – provides alternative fuel (ketones) for brain.
• Follow-up plan: Monitor seizure frequency, ataxia episodes, developmental progress. Adjust ketogenic diet. Prognosis: improved with early treatment.
Case 8
A 10-year-old child with progressive ataxia, Night blindness Difficulty distinguishing different colors., and hearing loss. Ichthyosis on skin exam.
WBC
5.2 × 10³/µL (normal)
ESR
10 mm/hr (normal)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Refsum disease – peroxisomal disorder with phytanic acid accumulation (PHYH or PEX7). Ataxia, retinitis pigmentosa, neuropathy, hearing loss, ichthyosis.
• Any other test: elevated Phytanic Acidm MRI Brain shows Cerebellar atrophy, white matter changes, Genetic testing (PHYH, PEX7), nerve conduction studies (demyelinating neuropathy), ophthalmology evaluation, audiometry.
• What to do next: Dietary restriction of phytanic acid (avoid green vegetables, dairy, beef fat, fish). Plasmapheresis if severely elevated.
• Follow-up plan: Monitor phytanic acid levels, vision, hearing, neurologic exam. Prognosis: improved with dietary restriction.