Ventricular septation on MRI could be diagnostic clue for PDH: Two case reports

Pyruvate dehydrogenase deficiency(PDH) is a rare metabolic disorder resulted with impairment in the aerobic carbohydrate metabolism. PDH is commonly associated with seizures, lactic acidosis, progressive neuromuscular and neurological degeneration. In this review, we aimed to show ventricular septation in MRI as playing a critical role on early diagnosis and treatment of disease. We report two female patients from non-consanguineous parents with PDH. Patient 1 had neonatal onset of seizures, feeding intolerance and antenatal corpus callosum hypoplasia. Severe hypotonia, microcephaly, hearing loss were seen on examination. Patient 2 presented at age of 4 months with severe hypotonia and seizures. Both of them had epileptic spasms and hypsarrhythmia on EEG. MRI report resulted as cerebral and cerebellar atrophy, corpus callosum hypolpasia, ventriculomegaly, intraventricular septation and interpreted as secondary to infection or bleeding. Clinical features and MRI findings with intraventricular septation of both patients directed us to genetic test for PDH. First patient diagnosed at the age of 2, second patient at the age of 5 years. Homozygous mutations of PDH-Alpha1 gene were detected and ketogenic diet started. Prenatal neuropathological changes in PDH deficiency consist of a variety of structural lesions could be seen in MRI. The presence of ventricular septations may also be the result of this destructive process. Because clinical and MRI findings arenonspesific, diagnosis can often be delayed. Therefore, we aimed to show that it is important to consider PDH as a rare cause in the differential diagnosis of atypical perinatal history and the presence of ventricular septation on MRI.
Keywords: Pyruvate dehidrogenase, ventricular septation, MRI