Vol 34, No 62 (2024): Continuous Publishing
Case report
Published online: 2024-11-06
Progressive epileptic encephalopathy due to mutations in the HSD17B gene — bifunctional enzyme deficiency. A case report
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DOI: 10.5603/cn.99865
Neurol Dziec 2024;34(62):11-17.
Abstract
Peroxisomal diseases result from genetically determined abnormal production of peroxisomes or a deficiency of a single peroxisomal enzyme. They are characterized by a wide, partially overlapping spectrum of symptoms, and in standard clinical assessment their molecular basis is impossible to differentiate.
The most severe form of peroxisome biogenesis disorders is Zellweger syndrome, associated with a characteristic phenotype and key symptoms: hypotension, the onset of seizures at 1 month of life, neurodevelopmental delay, and increased VLCFA concentration in the serum. A similar clinical picture is observed in bifunctional protein deficiency, hence it is sometimes called pseudo-Zellweger syndrome.
The following paper presents a case of a patient with a bifunctional enzyme deficiency.
There is no causal treatment for peroxisomal diseases and treatment is only supportive and symptomatic.
Keywords: peroxisomal diseasesbifunctional enzyme deficiencyZellweger syndrome spectrumVLCFAvery long chain fatty acids
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