Internal medicine
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Case Reports
CV2/CRMP5-antibody-related Paraneoplastic Neurologic Syndrome Associated with Gastrointestinal Stromal Tumor.
Paraneoplastic neurological syndrome (PNS) is a heterogeneous group of neurological disorders caused by immune-mediated inflammatory mechanisms. We herein report a 77-year-old man with CV2/CRMP5-antibody-related PNS associated with a gastrointestinal stromal tumor (GIST). He was admitted for forgetfulness and delusional behavior. ⋯ Partial gastrectomy was performed for the GIST, and the neurological symptoms and serum CV2/CRMP5 antibodies disappeared. No relapse has occurred since the surgery. PNS should be considered in patients with subacute neurological disorders.
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Serum tonicity is defined by the serum concentrations of sodium (sNa) and glucose, which can promote free water movement across intra/extracellular compartments. Rapid changes in serum tonicity can cause brain damage. We herein report an educational case of a patient with hyponatremia (sNa: 112 mEq/L) concomitant with acute alcoholic pancreatitis. ⋯ Pseudo- and trans-locational natremia was secondary to hyperglycemia (721 mg/dL) and hypertriglyceridemia (1,768 mg/dL), respectively, and true hypotonic hyponatremia. Regarding sNa correction, rapid correction was suspected. However, this was safely managed by monitoring tonicity (not sNa or osmolarity), thereby avoiding brain damage.
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Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and is considered quite rare. Respiratory insufficiency can be the sole symptom in the disease course. We herein report the first Japanese HMERF patient with a p. ⋯ The patient manifested respiratory failure and mild weakness of the neck flexor muscle at 69 years old and showed fatty replacement of the bilateral semitendinosus muscles on muscle imaging. Our case indicates that HMERF with a heterozygous p. P31732L mutation should be included in the differential diagnosis of muscular diseases presenting with early respiratory failure.