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A preterm newborn affected by congenital syphilis, born to mother not treated during pregnancy is described. The clinical picture was characterized by respiratory distress, cutaneous manifestations, massive hepatosplenomegaly, severe anemia,...
Ondine's curse, also called congenital central alveolar hypoventilation, is a rare disorder involving failed automatic control of respiration in the absence of cardiopulmonary disease, resulting in inadequate ventilation with progressive...
Behcet disease (BD) is rare in childhood. We report a 9-year-old boy with neuro-Behcet disease who presented diplopia and weakness on the left side after a cerebral concussion. Brain magnetic...
Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal...
Argininosuccinic aciduria (ASAuria) is a rare autosomal recessive urea cycle disorder. Neonatal presentation of ASAuria is the most common form. It is characterized by lethargy, feeding intolerance, decreased consciousness, and...
Studies of brain magnetic resonance imaging (MRI) of neonatal white matter damage are few, and descriptions of this type of brain damage are limited. During the past three years, we...
PURPOSE: Phimosis is the inability to retract the foreskin of the penis over the glans of the penis. Even though phimosis is not pathogenic, the presence of phimosis is known...
Submandibular gland abscess is exceptionally rare in neonates. We present a case of submandibular gland abscess and etiology, investigations and treatment for this very rare condition. The patient was a...
Purpose: The purpose of this study was to validate the Korean version of the mild cognitive impairment questionnaire (K-MCQ) to assess quality of life of older adults with mild cognitive...