Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter.

Abstract

BACKGROUND Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy, affecting an estimated 17.7-40 per 100 000 population. CMT exhibits diverse clinical manifestations, including gradually progressive bilateral atrophy, weakness of the lower-extremity muscles, sensory abnormalities, and abnormal nerve conduction velocities or amplitudes. It is important to note that other complications tend to occur during the progression of CMT disease. This report describes the late diagnosis of CMT in a 53-year-old mother and her 24-year-old daughter to highlight the risk of CMT patients complicated with respiratory and digestive diseases. CASE REPORT In this report, we describe the late diagnosis of CMT1E in 2 patients who carried the same missense point mutation in the peripheral myelin protein 22 gene {PMP22; [c.117G>C; p.(Trp39Cys)]}. Case 1 (daughter), in addition to CMT1E, was also diagnosed with respiratory disorders, hiatal hernia, gastroesophageal reflux disease (GERD), and chronic atrophic gastritis. Similarly, Case 2 (mother), who was diagnosed with CMT1E, also had a hiatal hernia, GERD, and chronic atrophic gastritis. Our report emphasized a potential association between CMT and digestive diseases and provides new insights into the prognosis of CMT. CONCLUSIONS This report presents 2 cases of respiratory dysfunction and multiple digestive diseases in a 53-year-old mother and her 24-year-old daughter, with the late diagnosis of CMT. These findings emphasize the importance of comprehensive patient care and provide a reference for future research into multidisciplinary approaches to the diagnosis and treatment of CMT.