Neurodegenerative disorders of childhood are complicated diseases with wide range of systematic involvement. These diseases
often pose great challenge to clinicians in terms of diagnosis and management. The purpose of this article is to outline a systematic
approach to a child presenting with suspected neurodevelopmental regression. Many inherited metabolic disorders present with
neural regression. The clinical approach depends upon the age of presentation, site of involvement in brain. Sound clinical knowledge
and better approach leads to early diagnosis, better management and above all genetic counselling. As the medical science is in the
track of rapid progression several treatment modalities are in the pipeline for neurodegenerative syndromes, early diagnosis and
referral to higher centres can bring a better future to the child.
Keywords: Neurodegenerative diseases; Hepatomegaly; White Matter; Grey Matter
Neurodegenerative disorders of childhood include large,
heterogeneous group of diseases that result from specific genetic
and biochemical defects, chronic viral infections, and varied
unknown causes. The hallmark of a neurodegenerative disease is
regression and progressive deterioration of neurologic function
with loss of speech, vision, hearing, or locomotion, often associated
with seizures, feeding difficulties, and impairment of intellect [1].
The acquisition of new developmental milestones does not exclude
the existence of a degenerative disorder. Most degenerative CNS
disorders can be divided clinically into three groups: gray-matter
diseases, white-matter diseases, and system diseases [1,2] (Tables
1-3).
Table 1:Area of brain involvement.
Table 2:Approach according to age of presentation [4].
Table 3:Treatable conditions with neural regression [5] loss of social skills.
a) History: In a patient with developmental regression the
history is very vital. Clues for diagnosis lie in the history. First
step would be to ascertain the age of onset of regression and the
acquisition of various milestones prior to that. Was the child
completely normal before regression or was there a concern
regarding development even prior to regression? Did the child
attained milestones before losing it. Which milestones the child
lost? In autism and other pervasive developmental disorders
regression of language skills is noted first followed by loss of
social skills (Tables 4 & 5).
Table 4:Specific pointers in history.
Table 5:Individual disease and clues for diagnosis.