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Progressive neuronal degeneration of childhood (PNDC) with liver disease
Insights
This study describes a rare neurodegenerative disorder in children with progressive brain and liver disease. Early signs include developmental delay, epilepsy, and abnormal EEG, suggesting a genetic cause.
Area of Science:
- Pediatric Neurology
- Hepatology
- Medical Genetics
Background:
- Progressive neuronal degeneration and liver disease present a diagnostic challenge in children.
- Identifying distinct genetic syndromes is crucial for accurate diagnosis and management.
- Previous reports have not fully characterized this specific combination of neurological and hepatic manifestations.
Purpose of the Study:
- To report and characterize a series of thirteen children with a specific progressive neurodegenerative disorder and liver disease.
- To delineate the clinical, electrophysiological, radiological, and pathological features of this condition.
- To investigate the inheritance pattern and potential diagnostic indicators.
Main Methods:
- Clinical case series analysis of thirteen affected children.
- Electroencephalography (EEG) and visual evoked responses (VER) for neurological assessment.
- Computerized axial tomography (CAT) for brain imaging.
- Autopsy findings for pathological examination of brain and liver tissues.
- Family history analysis to determine inheritance patterns.
Main Results:
- Children presented with developmental delay after a normal early period, followed by intractable epilepsy.
- EEG revealed a characteristic pattern, and VER were abnormal.
- CAT scans showed rapidly progressive cerebral atrophy, particularly affecting the calcarine cortex.
- Pathology confirmed neuronal degeneration and spongy changes in the cerebral cortex, alongside severe fatty change and cirrhosis in the liver.
- Inheritance appeared consistent with an autosomal recessive trait.
- Liver disease preceded neurological symptoms in some cases, and concerns regarding sodium valproate toxicity were addressed by pre-existing liver abnormalities and neuropathology.
Conclusions:
- A distinct syndrome of progressive neuronal degeneration and liver disease (PNDC) is described in children.
- Key indicators for PNDC include a characteristic clinical course, abnormal liver function tests, and specific EEG, VER, and CAT findings.
- The condition is likely inherited in an autosomal recessive manner.
- Distinguishing PNDC from other neurodegenerative disorders and drug toxicity is essential for appropriate patient care.
Abstract:
Thirteen children with progressive neuronal degeneration and liver disease are reported. Clinical features included developmental delay after a normal initial period with later onset of intractable epilepsy. The EEG showed an unusual but characteristic pattern, and visual evoked responses (VER) were abnormal. Rapidly progressive cerebral atrophy was seen on computerized axial tomography (CAT). Inheritance was consistent with an autosomal recessive trait. Pathological findings were neuronal degeneration and spongy change of the cerebral cortex. The calcarine cortex was more severely affected than other areas. Hepatic lesions included severe fatty change and cirrhosis. In six patients liver disease was detected before the onset of epilepsy and exposure to anticonvulsants. Two others were reported to have died from sodium valproate (SV) toxicity, but both had abnormal liver enzymes before treatment with SV, and in both the neuropathological findings were indicative of PNDC. During life, PNDC may be indicated by the characteristic clinical course, abnormal liver function tests, and abnormalities of EEG, VER, and CAT.