Retrospective evaluation of 130 cases with kawasaki disease follow-up in a tertiary care center in Turkey between 1999 and 2019: a 20-year experience.

OBJECTIVES: Kawasaki disease (KD), which is a medium vessel vasculitis, is common in Asian countries and is the most common cause of childhood-acquired heart diseases in developed countries. However, disease course and epidemiological data are limited in non-Asian developing countries like ours. We aimed to evaluate the clinical features and prognosis of patients with KD in our country and ethnicity, one of the referee centers of our country. METHODS: Patients with KD in our center for the last 20 years in the pre-COVID-19 pandemic era were included in the study. The clinical and laboratory findings, treatments, and follow-up findings were reviewed retrospectively in different age groups. RESULTS: Of the 130 patients, 82 (63%) were male. The median age at diagnosis was 2.97 years (2 months-11.5 years). Thirty-six (27.7%) patients were diagnosed with incomplete KD, and there was no significant laboratory difference between incomplete KD and complete KD patients. Thirty-three (25.3%) patients had coronary artery lesions (CAL), and it persisted in only 3 of 33 patients. One of 15 patients with IVIG resistance had CAL. The independent risk factors were days of illness at initial IVIG administration for CAL (p = 0.013, OR [95%CI] = 1.20 [1.04-1.38]) and low hemoglobin (p = 0.003, OR [95%CI] = 0.51 [0.33-0.79]) and low sodium for IVIG resistance (p = 0.012, OR [95%CI] = 0.81[0.69-0.95]). CONCLUSIONS: The rate of CAL is approximately three times higher in our results than in the Japanese data in recent years. We showed that the time of IVIG administration is the most critical factor for preventing CAL. Wide-ranging studies are needed to decently predict the disease process according to the age and region of patients.

Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy.

The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare. Here, we present an 8-year-old boy complaining of acute proximal muscle weakness of upper and lower extremities with normal mental status. He had a history of Guillain-Barré-like syndrome at the age of 2 years. Electrophysiologic studies showed sensorial polyneuropathy findings in the first attack and sensorimotor axonal polyneuropathy findings in the last attack. The genetic analysis revealed a previously reported hemizygote novel mutation of the PDHA1 gene (p.A353T/c.1057G > A), which encodes the E1α subunit of PDHC. Thiamine was ordered (15 mg/kg/day), dietary carbohydrates were restricted and clinical findings improved in a few weeks. This rare phenotype of PDHC deficiency is discussed.