Affiliations: Department of Pediatrics, Yüzüncü
Yıl University Faculty of Medicine, Van, Turkey
Note: [] Correspondence: Bülent Ataş, M.D., Halil ağa
mah. Melen Cad. Site blokları. G. Blok, No: 5. Van, Turkey. Tel: 090 432
215 04 70; fax: 090 432 215 04 79; E-mail: [email protected]
Abstract: A 10-year-old boy was admitted to hospital with a 3 month history of
intermittent spasms of the wrists and ankles, and twitching of the eyelids. He
also had polyuria, polydipsia, nocturnal enuresis, fatigue and constipation
since he was a toddler. Physical examination revealed normal blood pressure,
myokymia on the right eyelid and bilateral carpopedal spasms. Laboratory
investigation revealed hypocalcemia, hypokalemia, increased plasma renin and
aldosterone, hypercalciuria, metabolic alkalosis, and bilateral medullary
nephrocalcinosis. Cranial computed tomography was normal. Based on the clinical
and laboratory findings he was diagnosed as having Bartter's syndrome, which is
characterized by hypochloremia, hypokalaemia and metabolic alkalosis associated
with potassium renal leakage, with normal blood pressure despite increased
plasma renin activity. It is well known that tetany is not uncommon in the
neonatal form of Bartter's syndrome and nephrocalcinosis is usually not present
in the classic form. Interestingly, our patient had both the clinical
manifestations of the neonatal form and of the classic form of Bartter's
syndrome. In conclusion, we would like to emphasize that both the clinical
manifestations of neonatal and classic forms of Bartter's syndrome (as an
overlapping syndrome) might be seen in children and that Bartter's syndrome
should also be considered in children with tetany as in our case. (J Pediatr
Neurol 2004; 2 (1): 45–47).