Stepan Kutilek

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11–p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224; ref. 2) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 (refs. 3,4) and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.

Bone mineral density and urinary N-acetyl-beta-D-glucosaminidase activity in paediatric patients with idiopathic hypercalciuria.

Background:  Idiopathic hypercalciuria (IH) is defined as hypercalciuria that persists after correction of dietary inbalances and has no detectable causes. Patients with IH have a higher prevalence of osteoporosis. Defective reabsorption of calcium by the renal tubule is considered a likely mechanism of IH. N‐acetyl‐beta‐ d‐glucosaminidase (NAG) is a lysosomal enzyme that is a very sensitive marker of renal tubular impairment.

Foramina parietalia permagna: report of nine cases in one family.

Nine members of a family with foramina parietalia permagna (FPP), inherited as an autosomal dominant trait are reported. Although usually benign, FPP may be associated with other malformations.

Increased urinary n-acetyl-beta-d-glucosaminidase activity in children with hydronephrosis

OBJECTIVE Hydronephrosis leads to deterioration of renal function. As urinary N-acetyl-beta-D-glucosaminidase (U-NAG) activity is considered a sensitive marker of renal tubular impairment, our aim was to measure U-NAG in children with hydronephrosis and to look for a relationship among selected clinical parameters. MATERIALS AND METHODS We studied 31 children (22 boys and 9 girls, mean age 2.3 +/- 2.5 years) with hydronephrosis grade 1-4 that had U-NAG/creatinine ratio (U-NAG/Cr) measured. RESULTS The U-NAG/Cr was significantly higher in patients with hydronephrosis compared to reference data (p = 0.002). There was no difference in U-NAG/Cr between children with unilateral and bilateral hydronephrosis (p = 0.51). There was no significant difference in U-NAG/Cr between children with grades 1-3 (pooled data) and grade 4, respectively (p = 0.89). There was no correlation between U-NAG/Cr and the grade of hydronephrosis (r = 0.01). CONCLUSIONS U-NAG/Cr is increased in children with hydronephrosis grade 1-4, and there is no relationship with the grade of hydronephrosis. U-NAG is a useful marker of renal tubular dysfunction, however its relationship with the degree of kidney damage in patients with hydronephrosis should be considered as doubtful.

Quantitative ultrasonometry of the calcaneus in children with osteogenesis imperfecta

Aims:  Osteogenesis imperfecta (OI) is characterised by low bone density and increased bone fragility. The aim was to evaluate calcaneal quantitative ultrasonometry (QUS) parameters in children with OI and to look for relationship with the number of prevalent fractures.

Prospective Follow-up of Children with Transient Hyperphosphatasemia

were not detected. The estimate is based on the studies of Farkas and Levinel and Enzler2 who took radiographs of consecutive newborns and found a combined 18 clavicle fractures (2%) in 800 consecutive newborns. In our study3 of 626 newborns, Dr. Rosenfeld and I found 18 (2.6%) with clavicle fractures. Any conclusion that the authors draw relates to the 64 identified clavicle fractures, which represent the 10% of clavicle fractures that were probably most severe, and not to the 604+ clavicle fractures that were not detected. The 22 disease processes fall into two categories: (1) probably related to clavicle fracture and (2) possibly related to clavicle fractures, but I do not know why. I consider Erbs palsy to fall in the first category and all the others into the second. The presence of

Erroneous diagnosis of rickets

Address for Correspondence: Stephan Kutilek E-mail: kutilek@nemkt.cz Received: 21.10.2016 Accepted: 03.04.2017 ©Copyright 2017 by Turkish Pediatric Association Available online at www.turkpediatriarsivi.com DOI: 10.5152/TurkPediatriArs.2017.4890 Rickets is the clinical consequence of defective bone mineralization in children (Table 1). The clinical features of rickets include bone pain and deformities, muscle weakness, and profound sweating (1, 2). Findings include biochemical (Table 1) and radiographic abnormalities (metaphyseal cupping) (1, 2). The diagnosis of rickets is based on personal history, physical examination, and biochemical testing, and is confirmed with radiographs (1, 2). We report three children who were initially erroneously diagnosed as having rickets.

Transient hyperphosphatemia: a benign laboratory disorder in a boy with Gitelman syndrome

Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased S-ALP. THI is benign disorder, rather laboratory than clinical disorder, which is usually accidentally detected in both healthy and sick children. When encountered in a child with either chronic bone, liver or kidney disease, it might concern the physician. We present a three year old boy with genetically confirmed Gitelman syndrome where THI was detected accidentally during periodic check-up. S-ALP peaked to 41.8 µkat/L, there were neither laboratory or clinical signs of liver or bone disease; the S-ALP dropped to normal value of 4 µkat/L 60 days later. Therefore, the patient fulfilled the criteria for THI. There were no further increases in S-ALP.

Original articleSerum homocysteine levels in children and adolescents with impaired bone healthNíveis séricos de homocisteína em crianças e adolescentes com comprometimento da saúde óssea

Introduction Association between high serum homocysteine (S-Hcy) levels and low bone mineral density (BMD) and increased fracture risk in postmenopausal women has been documented. Data concerning S-Hcy and bone health in children are scarce.

Once-monthly oral ibandronate treatment in an adolescent with recurrent fractures and inadequately low bone mass.

1 Khan FY, Ayassin M. Mycoplasma pneumoniae associated with severe autoimmune hemolytic anemia: case report and literature review. Braz. J. Infect. Dis. 2009; 13: 77–9. 2 Chiou CC, Liu YC, Lin HH, Hsieh KS. Mycoplasma pneumoniae infection complicated by lung abscess, pleural effusion, thrombocytopenia and disseminated intravascular coagulation. Pediatr. Infect. Dis. J. 1997; 16: 327–9. 3 Timitilli A, Di Rocco M, Nattero G, Tacchella A, Giacchino R. Unusual manifestations of infections due to Mycoplasma pneumoniae in children. Infez. Med. 2004; 12: 113–7. 4 Kottayam R, Rozenberg G, Cohn RJ. Unusual haematologic manifestations of Mycoplasma pneumoniae infection. J. Paediatr. Child Health 2007; 43: 80–2.