Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic polyneuropathy characterized by motor difficulties, distal weakness, and hoarseness (dysphonia). We identified a homozygous missense c.576G>C, p.(Gln192His) variant in the SLC25A19 gene in both families by whole-exome sequencing. Following genetic diagnosis, thiamine replacement therapy was started, and improvement was observed in all affected patients. We highlight the associated phenotypes of an SCL25A19 mutation leading to clinical features of THMD-4.
Objective: Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare neurological disorder characterized by acute/subacute onset multi-directional chaotic eye movements, accompanied by myoclonus and cerebellar ataxia; as well as sleep disturbance, cognitive dysfunction, and behavioral disturbance can be observed.
Methods: We examined the information of eight patients (four females, four males) who applied to the hospital with OMAS between 2013 and 2020 from the medical records of the patients.
Results: The median age of onset of the initial symptoms was 17.5 months (8-30 months). The most common initial complaints were abnormal eye movement and gait unsteadiness, respectively. Paraneoplastic OMAS was observed in three patients (37.5%), whereas idiopathic and infection-related OMAS was detected in three, and two patients, respectively.
Conclusion: We emphasize that all symptoms of OMAS may not occur simultaneously, therefore comprehensive systemic investigations, and close observation should be made in patients with suspected OMAS.
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