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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. [ABSTRACT FROM AUTHOR]

Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnormalities of the brain. Most patients die during early childhood. Here, we identified a novel homozygous O-sialoglycoprotein endopeptidase (OSGEP) variant, NM_017807.3:c.973C>G (p.Arg325Gly), in four affected individuals in an extended consanguineous family from Saudi Arabia. We have described the detailed clinical characterization, brain imaging results, and muscle biopsy findings. The described phenotype varied from embryonic lethality to early pregnancy loss or death at the age of 9. Renal disease is often the cause of death. Protein modeling of this OSGEP variant confirmed its pathogenicity. In addition, proteomic analysis of the affected patients proposed a link between the KEOPS complex function and human pathology and suggested potential pathogenic mechanisms. [ABSTRACT FROM AUTHOR]

Central hypothyroidism might be another clinical sign of SSADH deficiency which prompts urinary organic acid screening for GHB in central hypothyroidism patients. Studies on GABA and thyroid hormone interaction might be a concept of a new therapy. [ABSTRACT FROM AUTHOR]

Pyridoxamine‐5′‐phosphate oxidase (PNPO) deficiency is an autosomal recessive pyridoxal 5′‐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 between the severity of PNPO protein disruption and disease outcomes, indicating the importance of other factors, including seizure onset and time of therapy initiation. We found that pre‐maturity, the delay in initiation of PLP therapy and early onset of seizures correlate with a poor neurocognitive outcome. Given the amenability of PNPO to PLP therapy for seizure control, early diagnosis is essential. [ABSTRACT FROM AUTHOR]

Parapharyngeal space (PPS) tumors are a rare entity and account for less than 1% of all head and neck tumors. Although they exhibit a benign behavior, malignant neoplasms may arise from any of the structure contained in the space. Differential diagnosis of a PPS mass can be determined based on its origin from the prestyloid or poststyloid space. Furthermore, the choice of surgical approach is dictated by the size of the tumor, its location, its relationship to the great vessels, and suspicion of malignancy. Chordomas are rare, slow-growing tumors arising from remnants of the notochord. They are locally aggressive malignant neoplasms. The majority of head and neck chordomas arise in the skull base with a small minority arising along the cervical spine. In this report, we describe the first case of a patient with a chondroid chordoma of the PPS with no direct involvement of the axial skeleton. [ABSTRACT FROM AUTHOR]

Background/Aim: Some reports in the literature have linked interferon therapy for the treatment of hepatitis C (HCV) with hearing loss. The aim of this study has been to examine the effects of interferon therapy on hearing of patients treated for HCV. Patients and Methods: Patients were recruited according to preset inclusion criteria from two centers. All patients received standard dose pegylated interferon (PEG-IFN α-2b or α-2a) plus ribavirin (RBV). All patients had pure-tone audiometry (PTA), tympanogram and distortion-product otoacoustic emission (DPOAE) before treatment, three months after initiation of treatment, and three months after completion of treatment. Results: Twenty one patients were prospectively recruited. The mean age was 45.7 years. The male to female ratio was 1.1:1. The mean PTA was 15.9 ± 5.3 before treatment, 17.4 ± 6.1 during treatment and 16.5 ± 5.1 after treatment. The differences between pre and mid, pre and post, as well as mid and post were not significantly different (P>0.05) in all audiological assessments. Conclusions: Our results indicate that PEG-IFN\RBV therapy does not have any impact on the hearing thresholds of patients with HCV. [ABSTRACT FROM AUTHOR]