Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant.

Neonatal diabetes mellitus (NDM) is a rare condition that can be either transient or permanent. K(ATP) channel (Kir6.2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM. Cases caused by Kir6.2 mutation usually result in permanent NDM (PNDM) rather than transient NDM (TNDM). The majority of patients with the Kir6.2 or SUR1 mutation can be successfully managed with a sulfonylurea agent, without the need for insulin. We report a preterm male with NDM having two novel missense mutations, E322A and D352H, in the KCNJ11 gene. At 2 months of age, successful transition from insulin to glibenclamide (glyburide) therapy of the patient was managed. At 5 months of age, his diabetes went in to remission.

Is edema in minimal change disease of childhood really hypovolemic?

OBJECTIVES: In this study, we aimed to find out whether children with minimal change disease can be classified as hypervolemic by objective measures. METHODS: Eighteen children with minimal change disease diagnosed at our department between November 2005 and May 2007 were included in this study. All patients were newly diagnosed or relapsed but were steroid free for at least 6 months. In the first week of edema and when edema resolved (5-7 days after initiation of therapy), weight, height and blood pressure were obtained from all patients. Serum and plasma samples were taken following a starvation period of 12-14 h. The volume load of all patients was evaluated, measuring the inferior vena cava indices in each stage by echocardiography. RESULTS: Average weight at presentation was 8.5% higher than the ideal (dry) weight. There were significant differences between the first and post-treatment body weights, abdomen circumference, and systolic and diastolic blood pressure values (P<0.05 for each). The inferior vena cava index (IVCI) values decreased significantly after diuretic treatment (P<0.001), while inferior vena cava collapsibility index (IVCCI) values increased in the post-treatment period (P<0.001). CONCLUSION: We believe that a close follow-up of hypervolemic children with MCD, treated solely with easy-to-handle diuretics instead of I.V. albumin and diuretics may properly solve the edematous state in these patients.

Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia.

Idiopathic hypertrophic osteoarthropathy is a rare syndrome, characterized by clubbing, progressive enlargement of the joints, coarse facial features suggesting acromegaly, palmoplantar hyperhidrosis, fibrous covering at the ends of long bones (periostosis), and acro-osteolysis. It is a self-limiting condition but arthralgia may be as severe as limiting social life and activity, and it is the main complaint to be treated. We report on two siblings with pachydermoperiostosis (PDP), one of whom had arthralgia. Although several drugs have been used, we used tamoxifen for his arthralgia and his complaint disappeared. To the best of our knowledge, this is the second case treated by tamoxifen reported in the literature.

Necrotizing enterocolitis increases the bone resorption in premature infants.

BACKGROUND: Necrotizing enterocolitis is a common neonatal gastrointestinal disease that affects approximately 10% of premature infants less than 1500 g. The average mortality is 20-40% and survivors may present with diarrhea or malabsorption, intestinal strictures and fistulas, feeding abnormalities and failure to thrive. It is not clear whether the higher incidence of this gastrointestinal disease in premature infants contributes to the risk of osteopenia of prematurity. AIM: To examine bone turnover state in premature infants who had a necrotizing enterocolitis attack during postnatal period. STUDY DESIGN AND SUBJECTS: We examine the bone turnover markers in infants with necrotizing enterocolitis and compare them with infants with sepsis. Forty-one premature infants participated in the study and were divided into three groups. In group I, there were 14 premature infants who developed necrotizing enterocolitis with negative blood culture during their hospitalization. In group II, there were 12 premature infants who developed sepsis during their hospitalization. Age-matched 15 premature infants who were given parenteral nutrition served as control group (group III). Blood samples and 6-h urine samples were obtained for bone turnover markers and calcium, phosphorous, creatinine and 25-hydroxy vitamin D between the day 20 and 25. Bone osteoblastic activity was assessed by measurement of serum osteocalcin. Bone resorption was assessed by measurement of serum levels of beta-CrossLaps and urinary deoxypyridinoline. RESULTS: There were no significant differences in bone osteoblastic activity among the groups, but bone resorption markers were significantly higher in infants with necrotizing enterocolitis compared to other groups (p < 0.016). CONCLUSION: Necrotizing enterocolitis increases the bone resorption in premature infants. It may be related with reduced glucagon like peptide-2 levels, a new intestinal hormone that is primary secreted from distal small intestine.

Treatment of chylothorax developed after congenital heart disease surgery: a case report.

Chylothorax is defined as the accumulation of lymphatic fluid or chyle in the pleural space. Chylothorax treatment is composed of conservative; pleural drainage, termination of enteral feeding, total parenteral nutrition and supplementation with medium- chain triglycerides and surgical therapies; ductus thoracicus ligation, pleuroperitoneal shunts or pleuredesis. Nowadays, for cases among which conservative therapies fail, treatment with octreotide has been reported to be beneficial with promising results. A neonate who developed chylothorax after surgery performed for congenital heart disease was treated successfully with octreotide.

Giant cystic primary cerebral neuroblastoma in a child and solid primary cerebral neuroblastoma in an adult: two case reports.

Primary cerebral neuroblastoma is a rare entity in neurosurgical practice. They occur primarily in young children and are extremely rare in adults. Primary cerebral neuroblastoma is one of a group of highly malignant undifferentiated primitive neuroectodermal tumours arising from germinal matrix cells of the embryonic neural tube. They are difficult to diagnose preoperatively and pathologically. We present two cases of primary cerebral neuroblastoma.

Primary lymphoedema at an unusual location triggered by nephrotic syndrome.

INTRODUCTION: Lymphoedema results from impaired lymphatic transport leading to the pathologic accumulation of protein-rich lymphatic fluid in the interstitial space, most commonly in the extremities. Primary lymphoedema, a developmental abnormality of the lymphatic system, may become evident later in life when a triggering event exceeds the capacity of normal lymphatic flow. CLINICAL PICTURE: We present a 3-year-old nephrotic syndrome patient with an unusual localisation for primary lymphoedema. TREATMENT AND OUTCOME: The patient was treated with conservative approach and she was cured. CONCLUSION: In this particular case, lymphoedema developed at an unusual localisation, which has not been recorded before.

Autosomal recessive cutis laxa in two siblings associated with blue sclera.

Cutis laxa is a clinical entity found in a heterogeneous group of genetic and acquired disorders characterized by premature aging of the skin with normal wound healing. We report two siblings born of consanguineous parents who presented with growth retardation, delayed developmental milestones, and the classical phenotypic manifestations of type 2 recessive cutis laxa. They showed remarkable blue sclera, which to our knowledge has not been reported previously in cutis laxa.

Menstrual pattern and common menstrual disorders among university students in Turkey.

BACKGROUND: Menstrual disorders may affect the life of adolescents and young adult women, and may sometimes cause serious problems. The patterns of menstrual cycles were analyzed for association with age of menarche, prevalence of menstrual irregularity, dysmenorrhea, prolonged menstrual bleeding, and effect of menstrual disorders, especially dysmenorrhea, on social activities and school attendance among the female students. METHODS: A total of 480 students were randomly selected and asked to complete an the anonymous questionnaire of 25 items. RESULTS: The mean age of the subjects at menarche was 12.8 +/- 1.3 years with a range of 9-17 years. The duration between two periods and the menstrual flow were 27.7 +/- 2.5 days and 5.8 +/- 1.4 days, respectively. The prevalence of menstrual irregularity, prolonged menstrual bleeding and dysmenorrhea were 31.2%, 5.3% and 89.5%, respectively. Approximately 10% of dysmenorrheic subjects had severe dysmenorrhea; and school absenteeism and need to consult a physician were more common in those subjects. The first source of their knowledge about menarche and menstruation was their mothers in 211 subjects (54%); only 18 subjects (4.6%) were given a lecture about menstruation and menarche at school. CONCLUSION: The prevalence of dysmenorrhea and menstrual irregularity was high, and most adolescents have inappropriate and insufficient information about menstrual problems. Hence, an education program is needed at the end of primary school about menarche and menstrual problems.

Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.

We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-Opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.

Henoch-Schönlein purpura in north-eastern Turkey.

AIM: To evaluate the epidemiological and clinical findings in children with Henoch-Schönlein purpura (HSP) admitted during a 10-year period, 1995 to 2004, and to compare them with series from other parts of the world. METHODS: The medical records of all children aged 17 years or less admitted with a diagnosis of HSP to the Department of Pediatrics of Karadeniz Technical University were evaluated retrospectively for epidemiological and clinical features. RESULTS: Of 116 children, 73 (63%) were boys. The mean (SD) age at presentation was 8.9 (3.7) years and one-third of them were older than 10 years of age. Over half the cases presented between September and January. All patients had the typical skin rash. Gastro-intestinal manifestations were seen in 64 (55.1%) and joint manifestations, common during the early course of the disease, in 73 (62.9%). Two patients required laparatomy, one for acute abdomen and the other for bowel resection owing to intussusception. Renal manifestations were observed in 36 (31%), all within 3 months of initial symptoms, and one patient (0.8%) with nephritic syndrome progressed to end-stage renal disease. Five patients had hypertension without urinary findings. Symptoms recurred in eight patients (6.9%) over a period ranging from 2 to 5 months after complete resolution of symptoms. There was a history of a preceding upper respiratory tract infection in 16 (13.7%) and a streptococcal infection was confirmed by throat culture in 12 of the 42 (28.5%) children at presentation. CONCLUSION: HSP is generally benign and self-limiting. Hypertension may be seen during the course of the disease without urinary findings. In this area, it seems to affect older children and there is a relatively lower incidence of renal manifestations.

Clinical course of spontaneous spinal epidural haematoma mimicking Guillain-Barré syndrome in a child: a case report and literature review.

We describe a 9-year-old female with thoracic epidural haematoma. The clinical course simulated Guillain-Barré syndrome (GBS) so intravenous immunoglobulin therapy was started at the paediatric clinic. Magnetic resonance imaging (MRI) 3 days after admission showed thoracic epidural haematoma between T2 and T8. An emergency laminectomy was performed and the patient's neurological symptoms began to improve immediately after surgery and she made a full recovery during the 2 weeks of follow-up. Time is a very important factor in achieving reversibility of symptoms of compressive cord lesions, such as spinal epidural haematoma, and MRI is mandatory for patients with progressive paraplegia, even though the signs and symptoms might suggest GBS.