RESUMEN
Primary carnitine deficiency (PCD) is caused by pathogenic variants of the SLC22A5 gene, which encodes a transmembrane protein that functions as a high affinity carnitine transporter. Carnitine is essential for the transport of acyl-CoA, produced from fatty acids, into the mitochondria where they are oxidised to produce energy. We present the case history of an 8-year-old boy who presented with fever, lethargy, focal rhythmic (3â Hz) left wrist twitching, and severe encephalopathy. MRI brain showed basal ganglia involvement. Metabolic investigations revealed low serum carnitine; whole genome sequencing confirmed compound heterozygous SLC22A5 mutations. With carnitine replacement, intensive care support, and neurorehabilitation, he made a remarkable recovery, regaining independent breathing, speech, mobility, and hand use. Seizure presentation in PCD is rare and presentation with sustained focal myoclonus has not been previously reported. This case expands the known phenotype of PCD. Prompt carnitine replacement is imperative.
RESUMEN
BACKGROUND: Coeliac disease (CD) is an autoimmune enteropathy that may feature extraintestinal manifestations including cerebellar ataxia and myoclonus. METHODS AND RESULTS: A descriptive series of five patients with CD who presented with prominent stimulus-sensitive foot myoclonus. CONCLUSIONS: Stimulus-sensitive foot myoclonus is a distinct clinical sign and may be a useful clue to the diagnosis of CD.
RESUMEN
Chronic posthypoxic action myoclonus is usually recognized as multifocal or generalized and, in most cases, causes severe disability. It is also commonly associated with other neurological symptoms, such as ataxia. We report two cases of focal predominant postanoxic action myoclonus and review the limited relevant literature. The first case presented with action and stimulus sensitive myoclonus in the lower limbs that caused him limited disability. He had not received any diagnosis in almost 2 years. The second patient exhibited predominantly focal facial myoclonus, although she was more limited by dysphasia and hemiplegia as a consequence of an ischemic stroke. Both patients responded to antiepileptic drugs. We found 9 of 159 previously reported cases with this focal distribution. Physicians should be aware of this limited phenotype given that the unusual focal nature of the movements may result in incorrect diagnosis and treatment.