The document presents a clinical overview of neurodegenerative disorders in children, detailing case studies of patients with varying symptoms and neuroimaging results that lead to different diagnoses such as Canavan disease, Krabbe disease, and late-infantile MLD. Key takeaways emphasize the importance of accurate diagnosis for treatment and genetic counseling, as well as the typically poor outcomes associated with these conditions. It also highlights the potential for novel therapies to alter disease progression in some cases.

1. Approach to
Neurodegenerative
Disorders
By
Dr Praman Kushwah
Guide : Dr Pradeep Pazare

2. Brain MRI of an 8-year-old boy
who developed declining school
performance, clumsiness, and
visual impairment at age 5 years.
His symptoms became
progressively worse over time .
Physical exam showed cognitive
impairment and hyperreflexia .
Plasma levels of very-longchain
fatty acids were increased,
confirming a diagnosis of ??

3. a 6-month-old girl with poor head
control, hypotonia, and macrocephaly.
Axial T2- weighted image (A) shows
hyperintense signal in all of the white
matter. MRS reveals a markedly
elevated N-acetyl aspartate peak (white
arrow) consistent with -??
Canavan disease

4. a 2-month-old girl who presented with
irritability and developmental arrest.
Cerebrospinal fluid protein was markedly
elevated at 216 mg/dL. CT shows
symmetric hyperdensities in the bilateral
lateral thalami, putamen, and adjacent
white matter. MRI shows hypointense
signal in the corresponding regions
(arrows). Galactocerebrosidase enzyme
activity was undetectable --??
Krabbe

5. a 2-year-old girl who initially had normal
development but did not achieve
walking. Examination showed absent
reflexes, and nerve conduction studies
were consistent with a generalized
polyneuropathy. Urine sulfatides were
elevated and arylsulfatase A activity was
low, consistent with --??
late-infantile MLD

6. Take home message
1. A precise history confirms regression of developmental milestones, and
neurological examination localizes processes within nervous system.
2. Outcome of a neurodegenerative condition is usually fatal and available
therapies are often limited in effect.
3. It is important to make correct diagnosis so that Genetic Counseling may
be offered and Prevention Strategies can be implemented.
4. Onset of inherited disease can occur at any age.
5. BMT and other novel therapies may prevent the progression of disease in
certain presymptomatic individuals.

7. References
• Nelson textbook of Pediatrics 20th
edition
• Fenichel Pediatric Neurology
• Recent advances in pediatrics
• Training Module for Childhood neurological diseases AIIMS
New Delhi
• Clinical approach to children with suspected
neurodegenerative disorders - Neurosciences 2002; Vol. 7 (1):
2-6

8. Thank You