Mukaddes Kalyoncu

The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excessive androgen exposure in the gestational period and various degrees of masculinization of the external genitalia in female foetuses. Intrauterine gonadal steroids are not only essential for the development of the genital organs but also affect some other extragenital organ development. The second to fourth digit (2D/4D) ratio shows a sexually dimorphic pattern with longer fourth digit from second digit in men compared to women. A low 2D/4D ratio is associated with high sperm count, testosterone levels and reproductive success in men. A high 2D/4D ratio is associated with high oestrogen levels in women. Second and fourth digit ratio has also found to be correlated with sexual orientation, left hand preference autism and some adult onset diseases such as breast cancer and myocardial infarction. We found lower 2D/4D ratio in female patients with 21-hydroxylase deficiency compared to healthy girls (p=0.000) and equal 2D/4D ratio for female patients when compared to male controls. Male patients with 21-hydroxylase deficiency had significantly lower 2D/4D ratio than female and male controls in the right hand. Healthy boys had lower 2D/4D ratio than healthy girls. It is concluded that 2D/4D ratio established by intrauterine androgen levels influences the sexually dimorphic digit pattern.

Genotype-phenotype associations in WT1 glomerulopathy.

WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant nephrotic syndrome relative to 700 WT1-negative patients, all with steroid-resistant nephrotic syndrome. WT1 patients more frequently presented with chronic kidney disease and hypertension at diagnosis and exhibited more rapid disease progression. Focal segmental glomerulosclerosis was equally prevalent in both cohorts, but diffuse mesangial sclerosis was largely specific for WT1 disease and was present in 34% of cases. Sex reversal and/or urogenital abnormalities (52%), Wilms tumor (38%), and gonadoblastoma (5%) were almost exclusive to WT1 disease. Missense substitutions affecting DNA-binding residues were associated with diffuse mesangial sclerosis (74%), early steroid-resistant nephrotic syndrome onset, and rapid progression to ESRD. Truncating mutations conferred the highest Wilms tumor risk (78%) but typically late-onset steroid-resistant nephrotic syndrome. Intronic (KTS) mutations were most likely to present as isolated steroid-resistant nephrotic syndrome (37%) with a median onset at an age of 4.5 years, focal segmental glomerulosclerosis on biopsy, and slow progression (median ESRD age 13.6 years). Thus, there is a wide range of expressivity, solid genotype-phenotype associations, and a high risk and significance of extrarenal complications in WT1-associated nephropathy. We suggest that all children with steroid-resistant nephrotic syndrome undergo WT1 gene screening.

Amitraz intoxication in children in the rural Black Sea region: analysis of forty-three patients

Amitraz is used topically in the treatment of demodicosis and other ectoparasitic infestations. Amitraz poisoning in children has been reported in a few cases. We presented 43 cases with amitraz intoxication. Of the patients, 14 had skin exposure. We compared the skin to peroral exposure group considering intoxication findings and outcome. In the peroral exposure group symptoms and recovery were more severe than in the skin exposure group, but mortality was not seen in two groups.

Henoch-Schönlein purpura: a case with atypical presentation

We report on a case of Henoch-Schönlein purpura (HSP) with pulmonary hemorrhage and severe renal involvement. The patient also had active carditis related to acute rheumatic fever. He died despite intensive treatment. Regarding this case, we discuss the pathogenesis and clinical findings of pulmonary hemorrhage and active carditis in HSP.

Pattern of pediatric poisoning in the east Karadeniz region between 2002 and 2006: increased suicide poisoning.

In the present study, 386 patients with the diagnosis of poisoning admitted to the Pediatric Emergency Unit of Farabi Hospital of Medical Faculty of Karadeniz Technical University between January 2002 and December 2006 were retrospectively evaluated with respect to gender, age, cause of poisoning, type of substance used, route of exposure, reason for the intake, signs and symptoms, time of referral to the hospital, hospitalization period, and prognosis. The age group of most poisoning cases was <5 years of age and constituted 51% (n = 197) of all cases. The main toxic agent was drugs (70.2%), followed by foods (8.8%), rodenticides (7%), insecticides/pesticides (4.9%), and carbon monoxide (4.7%). In childhood poisonings, accidental drug poisoning was frequent in toddlers, whereas suicidal poisoning was frequent in adolescents. The suicidal poisoning rate was 23.8% among all poisoning patients, and 98.9% of these patients were adolescents. The suicidal poisoning rates for males and females were 30% and 70%, respectively. An increase in suicidal and inhalation poisonings was observed when compared with previous studies that have been conducted in the same region. The results of the present study suggest that poisonings still represents an important health problem that could be prevented by safe drug storage at home, as well as parental education on adolescence issues, particularly those regarding females.

Hemophagocytic syndrome as an initial presentation of miliary tuberculosis without pulmonary findings.

A 9-y-old girl was admitted with fever, weakness and weight loss. She had pancytopenia in peripheral blood, hypocellularity and hemophagocytosis in bone marrow. Disseminated tuberculosis was diagnosed after a long delay, with involvement of the lungs, bone marrow, liver, spleen and central nervous system. Tuberculosis can be a cause of hemophagocytosis and should be taken into account in the differential diagnosis of fever of unknown origin associated with pancytopenia and hemophagocytosis.

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.

Henoch-Schonlein purpura in north-eastern Turkey

Abstract 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.

An unusual varicella zoster infection complicated by purpura fulminans and multiorgan failure in a healthy infant

The case is reported of a 2-y-old boy who developed purpura fulminans, meningoencephalitis, pneumonia complicated by adult respiratory distress syndrome and acute renal failure after varicella. These complications of varicella are extremely rare in a healthy infant.

Castleman Disease: A Case with Atypical Presentation

Castleman disease is a benign lymphoproliferative disorder characterized by enlarged lymph nodes. In children the disease is rare, usually localized, and asymptomatic. Resection of the node is almost always curative. A case is reported that was diagnosed as hyaline vascular-type Castleman disease at 1 year of age. The disease recurred from infraclavicular region in addition to primary site, even though total excision was performed. Although the disease is mullticentric after recurrence, the patient has no systemic symptoms.