Abstract
Mitochondrial cytochrome P450 side-chain cleavage enzyme (P450scc, CYP11A1 ) is the initiating enzyme of steroidogenesis and converts cholesterol to pregnenolone. Here we describe neurological, cerebral magnetic resonance imaging (MRI), and cerebrospinal fluid (CSF) findings in a patient with a homozygous disruption of P450scc. Free γ-aminobutyric acid (GABA) and glutamate levels were measured in the patient’s CSF and control samples from 10 subjects by mean of high performance liquid chromatography with electrochemical detection. In the CSF, patient’s free GABA levels were significantly reduced in comparison to control values. Cerebral MRI revealed multiple supratentorial located T2 lesions in the periventricular and peritrigonal white matter without gadolinium enhancement or diffusion restriction of lesions. Both MRI and CSF neurotransmitter findings in our patient with P450scc deficiency were comparable to those found in multiple sclerosis. J Neurol Res. 2018;8(1-2):13-15 doi: https://doi.org/10.14740/jnr467w
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