A wide range of clinical findings have been associated with mutations in Syntaxin Binding Protein 1 (STXBP1), including multiple forms of epilepsy, nonsyndromic intellectual disability, and movement disorders. STXBP1 mutations have recently been associated with mitochondrial pathology, although it remains unclear if this phenotype is a part of the core feature for this gene disorder. We report a 7-year-old boy who presented for diagnostic evaluation of intractable epilepsy, episodic ataxia, resting tremor, and speech regression following a period of apparently normal early development. Mild lactic acidemia was detected on one occasion at the time of an intercurrent illness. Due to the concern for mitochondrial disease, ophthalmologic evaluation was performed that revealed bilateral midperiphery pigmentary mottling. Optical coherence tomography (OCT) testing demonstrated a bilaterally thickened ganglion cell layer in the perifovea. Skeletal muscle biopsy analysis showed no mitochondrial abnormalities or respiratory chain dysfunction. Exome sequencing identified a de novo c.1651C>T (p.R551C) mutation in STXBP1. Although mitochondrial dysfunction has been reported in some individuals, our proband had only mild lactic acidemia and no skeletal muscle tissue evidence of mitochondrial disease pathology. Thus, mitochondrial dysfunction is not an obligate feature of STXBP1 disease.
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http://dx.doi.org/10.1155/2016/4140780 | DOI Listing |
Cureus
November 2024
Internal Medicine, Wright State University, Dayton, USA.
Acidemia arises primarily from the accumulation of carbon dioxide or the loss of bicarbonate, leading to a pH decrease within the body, which can be fatal if severe and not promptly addressed. Metabolic acidemia occurs due to a loss of bicarbonate and can manifest through direct losses of bicarbonate via renal or gastrointestinal routes, or through the accumulation of anions such as lactic acid or ketoacids, leading to an anion gap metabolic acidosis. Many common etiologies for lactic acid and ketoacid generation exist, including medication-induced causes.
View Article and Find Full Text PDFTransfusion
December 2024
Vitalant Research Institute, Denver, Colorado, USA.
Background: Pathogen reduction technology (PRT)-treated apheresis platelets (APs) were returned without platelet swirl and with pH < 6.2. The platelet donor was taking prescription levothyroxine and metformin plus over-the-counter medications and supplements.
View Article and Find Full Text PDFMil Med Res
October 2024
Department of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15213, USA.
Lancet Child Adolesc Health
October 2024
Division of Pediatric Critical Care Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA; Susan B Meister Child Health Evaluation and Research Center, Division of General Pediatrics, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA. Electronic address:
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