ESPN 51th Annual Meeting

ESPN 2018


 
Idiopathic Hypercalciuria in Seckel Syndrome: A Rare Coexistance
AHMET MIDHAT ELMACI 1 MUHAMMET İRFAN DÖNMEZ 2

1- KONYA DR.ALI KEMAL BELVIRANLI WOMENS MATERNITY AND CHILDRENS HOSPITAL
2- KONYA TRAINING AND RESEARCH HOSPITAL
 
Introduction:

Seckel syndrome is a rare autosomal recessive disorder with microcephaly, dwarfism, delayed mental development and typical facial appearance. Hypercalciuria, on the other hand, is a common metabolic abnormality in children with urolithiasis and is found in approximately 60% of patients with renal stones. There are only a few reports on renal problems related to Seckel syndrome. Herein, we report a case of Seckel syndrome with idiopathic hypercalciuria (IH) and low bone mineral density (BMD).

Material and methods:

A 13-year-old girl with a previously diagnosed Seckel syndrome was admitted to our hospital with complaint of darkening of the urine, dysuria, and abdominal pain.

Results:

Medical history revealed low birth weight, mental and motor developmental delay. His parents were second-degree relatives. On physical examination; weight, height and head circumference were below the 3rd percentile. The patient had sloping forehead, micrognathia, low-set and malformed ears, a prominent beaked nose, and a high nasal bridge. Urine analysis showed 60 Red blood cells/High power field, however there was no sign of proteinuria. Upon metabolic evaluation, serum levels of blood urea nitrogen, creatinine, calcium, phosphate, magnesium and uric acid were found within normal range. Increased bilateral renal parenchymal echogenicity and microcalculi (2 mm) were reported in urinary ultrasonography. Additionally, serum levels of 25-hydroxy vitamin D, intact parathormone and bicarbonate were normal. Calcium-to-creatinine ratio in spot urine specimen was 0.59, and 24-hour urinary calcium excretion was 6.8 mg/kg/day. Moreover, urinary excretion of cystine, uric acid, oxalate and citrate were within normal range. Subsequently, dual-energy x-ray absorptiometry (DEXA) scan of the spine revealed reduced bone mineral density (BMD) (Z-score of -4.2) in the lumbar region. Hydrochlorothiazide treatment was initiated upon diagnosis of IH. Urinary excretion of calcium was normalized 3 months after treatment and DEXA scan at the 3rd year follow-up control indicated increased BMD (Z-score of -3.9).

Conclusions:

To the best of our knowledge, this is the first report regarding association of Seckel syndrome with IH. We suggest that awareness about IH in Seckel syndrome should be kept in mind and proper treatment should be initiated when needed.