Pediatric Neurodegenerative Disorders: Model Clinical Case and Viva QnA

Clinical Case of Neurodegenerative Disorder in Children

Case: Late Infantile Metachromatic Leukodystrophy

A 2-year-old girl, Sarah, is brought to the pediatric neurology clinic by her parents with concerns about regression in motor skills and language development. Her parents report the following:

• Normal development until 18 months of age
• Gradual loss of ability to walk independently over the past 4 months
• Decreased vocabulary and difficulty forming sentences
• Frequent falls and unsteady gait
• Irritability and sleep disturbances

Physical examination reveals:

• Decreased muscle tone in all limbs
• Brisk deep tendon reflexes
• Bilateral Babinski sign
• Difficulty following complex commands

Further investigations:

• MRI brain: Symmetric white matter changes in the periventricular regions and centrum semiovale
• Nerve conduction studies: Reduced conduction velocities
• Arylsulfatase A enzyme activity: Markedly reduced
• Genetic testing: Pathogenic variants in the ARSA gene

Based on the clinical presentation and investigations, Sarah is diagnosed with Late Infantile Metachromatic Leukodystrophy (MLD). The family is counseled about the progressive nature of the disease, and a multidisciplinary care plan is initiated, including physical therapy, occupational therapy, and genetic counseling for family planning.

Clinical Presentations of Neurodegenerative Disorders in Children

Varieties of Clinical Presentations

1. Spastic Quadriplegia with Cognitive Decline

   Example: X-linked Adrenoleukodystrophy (X-ALD)

   • Progressive spasticity in all limbs
   • Cognitive deterioration
   • Visual and hearing impairment
   • Seizures
   • Adrenal insufficiency

2. Ataxia and Oculomotor Abnormalities

   Example: Ataxia-Telangiectasia

   • Progressive cerebellar ataxia
   • Oculomotor apraxia
   • Telangiectasias (dilated blood vessels) on skin and eyes
   • Immunodeficiency
   • Increased risk of malignancies

3. Dystonia and Parkinsonism

   Example: PANK2-associated Neurodegeneration (PKAN)

   • Early-onset dystonia, particularly in lower limbs
   • Rigidity and bradykinesia
   • Retinal degeneration
   • Speech difficulties (dysarthria)
   • Cognitive decline

4. Seizures and Developmental Regression

   Example: Neuronal Ceroid Lipofuscinosis (NCL)

   • Progressive myoclonic epilepsy
   • Loss of previously acquired skills
   • Visual impairment leading to blindness
   • Cognitive decline
   • Motor dysfunction

5. Behavioral Changes and Cognitive Decline

   Example: Juvenile Huntington's Disease

   • Behavioral disturbances (aggression, impulsivity)
   • Cognitive decline, particularly in executive functions
   • Motor symptoms (chorea, rigidity)
   • Psychiatric symptoms (depression, anxiety)
   • Speech and swallowing difficulties

6. Liver Dysfunction and Neurological Symptoms

   Example: Wilson's Disease

   • Hepatic dysfunction (elevated liver enzymes, jaundice)
   • Movement disorders (tremor, dysarthria)
   • Psychiatric symptoms
   • Kayser-Fleischer rings in the eyes
   • Cognitive impairment

7. Ophthalmoplegia and Ptosis

   Example: Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)

   • Progressive external ophthalmoplegia
   • Ptosis
   • Gastrointestinal dysmotility
   • Peripheral neuropathy
   • Leukoencephalopathy

Knowledge Check: Question and Answers for Medical Students & Professionals

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

Question 1 of 30

Disclaimer

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