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PLPHP deficiency in pediatric patient (MRI)

MRI of a patient with PLPHP deficiency at 4.5 years of age. A sagittal T1-weighted image (A) demonstrates a thin corpus callosum. Axial views show patchy bilateral increase in T2 (B) and FLAIR (C, D) signal in the deep white matter around the ventricles, especially in the frontal and peritrigonal regions. There is marked cerebral atrophy with prominent CSF spaces, particularly over frontal and Sylvian regions bilaterally (ie, predominant frontotemporal atrophy). (Source: Alsubhi S, Osterman B, Chrestian N, Dubeau F, Buhas D, Srour M. Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: a report of three novel individuals and review of 51 cases. Front Neurol 2022;13:913652. Creative Commons Attribution License [CC BY],

Associated Disorders

  • Vitamin deficiency and toxicity