Pyridoxamine-5 0-phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5 0-phosphate (PLP)-vitamin-responsive epileptic encephalopathy. The emerging feature of PNPO deficiency is the occurrence of refractory seizures in the first year of life. Pre-maturity and fetal distress, combined with neonatal seizures, are other associated key characteristics. The phenotype results from a dependency of PLP which regulates several enzymes in the body. We present the phenotypic and genotypic spectrum of (PNPO) deficiency based on a literature review (2002-2020) of reports (n = 33) of patients with confirmed PNPO deficiency (n = 87). All patients who received PLP (n = 36) showed a clinical response, with a complete dramatic PLP response with seizure cessation observed in 61% of patients. In spite of effective seizure control with PLP, approximately 56% of patients affected with PLP-dependent epilepsy suffer developmental delay/intellectual disability. There is no diagnostic biomarker, and molecular testing required for diagnosis. However, we noted that cerebrospinal fluid (CSF) PLP was low in 81%, CSF glycine was high in 80% and urinary vanillactic acid was high in 91% of the cases. We observed only a weak correlation
Epidermoid cysts are benign congenital extra-axial lesions commonly found in the posterior fossa. These lesions have a characteristic imaging appearance on computed tomography (CT) scan and magnetic resonance imaging (MRI), but occasionally they may exhibit atypical radiological features, showing unusual hyperintensity on T1-weighted images (T1WI). Currently, such atypical appearance is referred to as white epidermoid. We present the imaging features of 5 cases of white epidermoid cyst and discuss the possible underlying etiology of this unusual radiological appearance. We retrospectively searched our electronic radiology database from January 2005 to December 2015 for all intracranial epidermoid cysts, which were confirmed either by typical MRI appearance or histopathological examination. All white epidermoid cases were evaluated with non-enhanced CT scan and multisequential MRI. Histopathological correlation was carried out in four white epidermoid cases. A total of 61 patients with epidermoid cyst were found, of those 5 (8%) were considered white epidermoids. These consisted of 3 females and 2 males, ranging in age between 31–63 years (average age was 51.8 years). Three patients had lesions located in the posterior fossa. The 2 other patients had lesions in the suprasellar region, with extension to the right middle cranial fossa in one. All 5 lesions were hyperdense on CT scan and hyperintense on T1WI. One patient demonstrated evidence of transformation of a classic epidermoid to a white epidermoid after partial resection. Histopathologically, cholesterol clefts were seen in 3 epidermoid cysts, each which also showed microcalcifications, proteinaceous material or melanin. Hemorrhage was demonstrated in one additional lesion. White epidermoid cyst is an unusual intracranial lesion that should be considered when encountered with an extra-axial T1 hyperintense lesion. The cause of this hyperintensity is not clearly understood, but the presence of cholesterol, microcalcifications, proteinaceous content and rarely hemorrhage or melanin may be contributing factors.
Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symmetrically increased T1 and decreased T2/fluid-attenuated inversion recovery signal intensity in the basal ganglia. This condition is secondary to a mutation in the SLC39A14 gene. Objective: To present a series of three cases of hypermanganesemia with dystonia type 2, which was genetically confirmed secondary to a mutation in the SLC39A14 gene, and to describe the treatment and clinical course in these cases. Design: A retrospective case series. Setting: University, Tertiary hospital. Participants: Three unrelated pediatric patients with hypermanganesemia with dystonia type 2, genetically confirmed to be secondary to a mutation in the SLC39A14 gene. Exposures: Chelation therapy using calcium disodium edetate. Main outcome(s) and measure(s): The response to chelation therapy based on clinical improvements in motor and cognition developments. Results: All three patients were started on chelation therapy using calcium disodium edetate, and two of them showed an improvement in their clinical course. The chelation therapy could alter the course of the disease and prevent deterioration in the clinical setting. Conclusions and Relevance: Early diagnosis and intervention with chelating agents, such as calcium disodium edetate, will help change the outcome in patients with hypermanganesemia with dystonia type 2. This finding highlights the importance of early diagnosis and treatment in improving the outcomes of patients with treatable neurodegenerative disorders.
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