Neurologic manifestations can accompany systemic diseases, and primary dise
ase can be identified with a careful history, physical examination, and lab
oratory investigations. A 14-year-old girl with paraplegia and absence of d
eep tendon reflexes in the lower extremities after 2 days of vomiting and d
iarrhea was referred to our pediatric neurology department with a diagnosis
of Guillain-Barre syndrome. Short stature, dehydration, motor and mental r
etardation, bilateral cataracts, glaucoma, and band keratopathy were detect
ed on physical examination. Hypopotassemia and severe metabolic acidosis we
re found on biochemical examination. Her paraplegia improved after appropri
ate fluid and electrolyte replacement, but metabolic acidosis persisted aft
er cessation of intravenous therapy, and isolated proximal renal tubular ac
idosis was detected. Because she had isolated proximal renal tubular acidos
is and other abnormalities, she was diagnosed with Doncker-wolcke-Winsnes s
yndrome.