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Late infantile neuroaxonal dystrophy. An unusual case with predominantly myoclonic-epileptic symptomatology
Insights
Late-onset infantile neuroaxonal dystrophy (INAD) presented with severe myoclonic epilepsy and neurological decline. Histopathology confirmed INAD, but clinical features resembled progressive myoclonus epilepsies, highlighting diagnostic challenges.
Area of Science:
- Neurology
- Neuroscience
- Genetics
Background:
- Infantile neuroaxonal dystrophy (INAD) is a rare, inherited neurodegenerative disorder.
- Typical INAD presents in early childhood with motor and cognitive regression.
- Late-onset forms of INAD are less common and may present with atypical symptoms.
Purpose of the Study:
- To describe a case of late-onset infantile neuroaxonal dystrophy (INAD).
- To highlight the diagnostic challenges posed by its clinical presentation.
- To emphasize the importance of considering INAD in the differential diagnosis of progressive myoclonus epilepsies.
Main Methods:
- Case report of a 13-year-old girl with a 8-year history of neurological decline.
- Clinical assessment including neurological examination and observation of symptoms.
- Histopathological examination of the central nervous system (CNS).
Main Results:
- The patient exhibited a protracted course with cerebellar deficit, intellectual impairment, and progressive myoclonic seizures.
- Histology confirmed diffuse neuroaxonal dystrophy, spongy degeneration, cerebellar atrophy, and demyelination consistent with INAD.
- Clinical presentation mimicked progressive myoclonus epilepsies, differing from typical Seitelberger or Hallervorden-Spatz disease.
Conclusions:
- Late-onset INAD can present with a clinical phenotype overlapping with progressive myoclonus epilepsies.
- Histopathological findings are crucial for diagnosing INAD, even with atypical clinical features.
- INAD should be considered in the differential diagnosis of rare neurological disorders with myoclonic-epileptic symptoms.
Abstract:
A case of infantile neuroaxonal dystrophy (I.N.A.D.) with late onset is described with protracted course and predominant myoclonic-epileptic symptomatology. A girl of 13 years died in myoclonic-epileptic state. She had suffered from a mild cerebellar deficit, slight intellectual impairment and increasing myoclonic attacks since the age of 5 years. A similar neurological syndrome, beginning at almost the same age, occurred in her younger brother who died at the age of 11 years from acute hepatic failure (without autopsy). Histological examination of the CNS in the girl revealed a diffuse neuroaxonal dystrophy, some areas of spongy degeneration in the cerebral and cerebellar white matter, cortical atrophy of cerebellum accompanied by demyelination of the spinocerebellar tracts, the fasciculus gracilis and the cortico-bulbar tracts. Such histological features are in keeping with those of I.N.A.D. or Seitelberger's disease. The clinical features, however, differ considerably from the latter as well as from Hallervorden-Spatz's disease and seem to belong, instead, to the group of progressive myoclonus epilepsies. In the differential diagnosis of these rare conditions, therefore, also the I.N.A.D. ought to be considered.