Meltem Akçaboy

Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology

Mucolipidoses are metabolic disorders with autosomal recessive inheritance caused by deficiency of N-acetylglucosamine- 1-phosphotransferase leading to accumulation of glycosaminoglycans and sphingolipids intracellularly. The differential diagnosis of mucolipidosis II or III is based on the age of onset, clinical findings and degree of severity. In this article, we present four pediatric patients with mucolipidosis III or pseudo-Hurler polydystrophy who admitted to our hospital with joint stiffness. They were from consanguineous families with characteristic radiographic findings. The joints were painless and the rheumatologic evaluation and inflammation markers were negative. Mucolipidosis is a rare disease in pediatric patients to remember in differential diagnosis of joint stiffness.

The evaluation of bone metabolism in children with renal transplantation

This study aims to evaluate BMD and bone biomarkers and to investigate the effects of immunosuppressives on bone disease after RTx. Thirty‐three RTR aged 16.7 ± 3.7 yr and healthy controls (n = 32) were enrolled. There was no difference between pre‐RTx BMD and BMD at the time of study (45.9 ± 30.9 months after RTx), while both values were lower than controls (p < 0.01 and p < 0.05, respectively). Worst BMD scores were obtained at sixth month after RTx (−0.2 ± 0.9) and best at fourth year (1.4 ± 1.3). 25‐hydroxy‐(OH) vitamin D and OPG were higher in RTR (p < 0.001). BMD z scores negatively correlated with OPG and cumulative CS doses at the time of study (r = −0.344, p < 0.05 and r = −0.371, p < 0.05, respectively). Regression analysis revealed OPG as the only predictor of BMD (β −0.78, 95% CI −0.004 to −0.013, p < 0.001). The increase in OPG, a significant predictor of BMD, could either be secondary to graft dysfunction or for protection against bone loss. CS doses should be minimized to avoid their untoward effects on bone metabolism.

Acute Iron Poisoning in Children: An Ongoing Important Pediatric Emergency

Objective: Iron containing drugs are one of the most commonly prescribed drugs in our country and accidental or suicidal poisoning continues to be an important pediatric emergency. Our aim was to evaluate the clinical, laboratory, radiologic findings, and treatment approaches of children hospitalized with acute iron poisoning. Material and Methods: The clinical, laboratory, and radiologic findings of and treatment approaches for 17 patients aged 14 months-15 years hospitalized with acute iron poisoning were reviewed. Results: The mean age was 37±35.2 months. Iron poisoning was accidental in 16 patients. The mean duration between drug intake and hospital admission was 177±149 minutes. The mean ingested amount of iron was 35.4±19 mg/kg. The mean blood iron level was 232±136 mcg/dl. There was no significant relationship between the reported dose of ingested iron and the blood iron level (p>0.05). There was no significant relationship between blood iron level and ingestion time (p>0.05). Laboratory results revealed metabolic acidosis in 3 patients, respiratory acidosis in one patient, leucocytosis in one patient, and prolonged activated partial thromboplastin time in one patient. The patients’ findings were not consistent with blood iron levels. Whole bowel irrigation and IV deferoxamine were used in 3 patients. There was no death. The mean hospitalization duration was 2.8±1.1 days. Conclusion: Accidental iron poisoning continues to be an important pediatric emergency. There are no correlations between blood iron levels and the amount of ingested iron or the ingestion time. There was also no correlation between the blood iron levels and the clinical, laboratory and radiographic findings in our study.

Chronic recurrent multifocal osteomyelitis: a Case report

Chronic recurrent multifocal osteomyelitis is a rare autoinflammatory, immunologic disorder. It may involve recurrent inflammatory bone pain associated with aseptic osteomyelitis. If the diagnosis is delayed, it negatively influences quality of life by leading to persistent symptoms or joint damage. Herein, we report a 16-year-old male patient who presented with left hip and right knee pain lasting for the last two months and was diagnosed as having chronic recurrent multifocal osteomyelitis as a result of further evaluation. Improvement was achieved with prednisolone and methotrexate treatment that was initiated when no response to ibuprofen treatment could be obtained. Chronic recurrent multifocal osteomyelitis must be considered in the differential diagnosis in patients presenting with joint symptoms when clinical and radiologic bone lesions are found, no microorganism growth is observed, and no response to antibiotic treatment is obtained.

Kikuchi–Fujimoto disease triggered by Salmonella enteritidis in a child with concurrent auto-immune thyroiditis and papilloedema

Abstract Kikuchi–Fujimoto disease (KFD) is a histiocytic necrotising lymphadenitis characterised by painful cervical lymphadenopathy, fever, malaise and weight loss. Infections, auto-immune pathogenesis and a genetic association have been implicated. A 12-year-old boy presented with a 1-month history of fever, abdominal pain, constipation and weight loss, and a painful lymph node was detected in the right axilla. Chest CT demonstrated multiple lymph nodes, especially in the left mediastinum. Salmonella enteritidis group D was detected in a blood culture and he was treated with ceftriaxone, followed by meropenem. An axillary lymph node biopsy demonstrated necrotising histiocytic lymphadenitis and KFD was diagnosed. He was discharged 35 days after admission. He was re-admitted 3 weeks later with recurrence of symptoms and headache and was found to have papilloedema of the left eye and auto-immune thyroiditis. Intravenous immunoglobulin (IVIG) 400 mg/kg/day was administered for 5 days. The fever and papilloedema slowly resolved and, subsequently, the thyroiditis, and he has remained well on follow-up. This is the first report of an association of S. enteritidis infection and papilloedema with KFD. IVIG may be required in prolonged or recurrent cases and in those with an auto-immune association.

Whole blood viscosity and cerebral blood flow velocities in obese hypertensive or obese normotensive adolescents

Abstract Background: Obesity affects all major organ systems and leads to increased morbidity and mortality. Whole blood viscosity is an important independent regulator of cerebral blood flow. The aim of the present study was to evaluate the effect of whole blood viscosity on cerebral artery blood flow velocities using transcranial Doppler ultrasound in pediatric patients with obesity compared to healthy controls and analyze the effect of whole blood viscosity and blood pressure status to the cerebral artery blood flow velocities. Methods: Sixty patients with obesity diagnosed according to their body mass index (BMI) percentiles aged 13–18 years old were prospectively enrolled. They were grouped as hypertensive or normotensive according to their ambulatory blood pressure monitoring. Whole blood viscosity and middle cerebral artery velocities by transcranial Doppler ultrasound were studied and compared to 20 healthy same aged controls. Results: Whole blood viscosity values in hypertensive (0.0619±0.0077 poise) and normotensive (0.0607±0.0071 poise) groups were higher than controls (0.0616±0.0064 poise), with no significance. Middle cerebral artery blood flow velocities were higher in the obese hypertensive (73.9±15.0 cm/s) and obese normotensive groups (75.2±13.5 cm/s) than controls (66.4±11.5 cm/s), but with no statistical significance. Conclusions: Physiological changes in blood viscosity and changes in blood pressure did not seem to have any direct effect on cerebral blood flow velocities, the reason might be that the cerebral circulation is capable of adaptively modulating itself to changes to maintain a uniform cerebral blood flow.

Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (sapho) syndrome with subcutaneous methotrexate: a case report

Akçaboy M, Bakkaloğlu-Ezgü SA, Büyükkaragöz B, Isıyel E, Kandur Y, Hasanoğlu E, Buyan N. Successful treatment of a childhood synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome with subcutaneous methotrexate: A case report. Turk J Pediatr 2017; 59: 184-188. SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) is defined as a syndrome that is related to various osteoarticular manifestations and chronic dermatological conditions especially severe acne. SAPHO syndrome is a rare and unusual clinical entity in childhood and treatment choices are variable. We report an 11-year-old girl who suffered from SAPHO syndrome and successfully treated with subcutaneous methotrexate. We report our case in order to take attention to this rare clinical condition in evaluating patients and also to point out that treatment options beyond biologic agents should be the first line treatment in childhood.

Effects of whole blood viscosity and plasma NOx on cardiac function and cerebral blood flow in children with chronic kidney disease

Background/aim: The aim of the study was to investigate the effects of whole blood viscosity and plasma nitric oxide on cerebral and cardiovascular risks associated with chronic kidney disease. Materials and methods: The study group consisted of 40 pediatric patients and 21 healthy control subjects. Hematologic and biochemical variables, viscosity and plasma nitric oxide levels, echocardiographic findings, and middle cerebral artery blood flow velocity were examined. Results: Viscosity values of patients were significantly lower than those of the control group. Lower values of hematocrit, total protein, and albumin and higher values of ferritin in all patient groups resulted in significantly low viscosity levels. Plasma nitric oxide levels were higher in all patient groups than those in the controls. No statistically significant difference was present in middle cerebral artery blood flow velocity between the patient and control groups. Even when systolic functions were normal, the patient group had significant deterioration in diastolic functions, suggesting morbidity and mortality risks. Conclusions: Cerebral blood flow velocities were not affected by viscosity and nitric oxide levels, suggesting that cerebral circulation has the ability to make adaptive modulation. The metabolism of nitric oxide levels needs further investigation and studies in patients with chronic renal disease.

Results of native and transplant kidney biopsies of children in a single center over a 15 years period

Abstract Renal biopsy is an important diagnostic procedure in pediatric nephrology. This study retrospectively investigates the indications, results and complications in a single tertiary children’s hospital in Turkey. We evaluated the native and transplant kidney biopsies in Gazi University Pediatric Nephrology Department between 2001 and 2015. A total of 196 biopsies (144 natives and 52 transplants) were included into the study. The mean age of the patients was respectively 10.8 ± 3.5, 13.9 ± 1.5 years. The main indication for a biopsy was non-nephrotic proteinuria with or without hematuria (n= 35), followed by steroid-resistance nephrotic syndrome (SRNS) (n = 34) and Henoch-Schönlein purpura (HSP)–related proteinuria (n = 20) for native kidneys. We found that focal segmental glomerulosclerosis (FSGS) (11.7%) was the most common histopathologic diagnosis for native kidneys, but acute cellular rejection (7.6%) was the most common histopathologic diagnosis for transplant kidneys. The complication rate in our study was founded 6.6% totally. Different complication rates were found in other studies; however, we think that this difference comes from the inspecting methodology of the complications. Hence, we wanted to share our own experience in the context of other studies in the literature.

Cerebral Vasculitis in Henoch-Schönlein Purpura: A Case Report

Henoch-Schönlein purpura is a common form of systemic small vessel vasculitis in childhood. Although headache and behavioral changes have been described in a significant proportion of children with Henoch-Schönlein purpura, severe neurological complications are rare. In this article, we report a case of central vasculitis in a four-year-old boy who presented with hemiplegia and aphasia. The treatment options for cerebral vasculitis of Henoch-Schönlein purpura are numerous but controversial in pediatric patients. Our patient was successfully treated by pulse methylprednisolone and pulse cyclophosphamide. The patient was followed-up for four years without any sequel.