Preauricular sinus, nephrolithiasis, infantine eczema and natal tooth: a new association.

Preauricular sinuses (ear pits) are common congenital abnormalities. The incidence of preauricular sinus is widely varied. Usually asymptomatic, they manifest as small hollows adjacent to the external ear near the anterior margin of the ascending limb of the helix, most frequently on the right side. Preauricular sinuses can be either inherited or sporadic. They may be bilateral, increasing the likelihood of being inherited, in 25-50% of cases. Preauricular sinuses are features of other conditions or syndromes in 3-10% of cases, primarily in association with deafness and branchio-oto-renal (BOR) syndrome. When other congenital anomalies coexist with these sinuses, auditory testing and renal ultrasound should be considered. A girl, who was three months and 20 days old, was presented because of the co-existence of a right infected preauricular sinus, nephrolithiasis, infantile eczema and a natal tooth.

Vitamin D status in children with headache: A case-control study.

BACKGROUND: Vitamin D is a fat soluble vitamin with hormonal properties, plays crucial functions in bone and mineral metabolism and has important regulatory functions in brain development, cell differentiation and apoptosis. Some studies have shown a link between vitamin D deficiency and headache. MATERIAL AND METHODS: In this study, 147 patients with headache (migraine or either tension-type headache (TTH)) and 69 healthy controls, aged 5 to 16 years, were evaluated. Each group was also divided into two separate sub-groups based on presentation to the clinic in either high solar-exposure (HSE) and low solar-exposure (LSE).We retrospectively evaluated the levels of calcium, phosphorus, alkaline phosphatase, parathyroid hormone, and 25-OH vitamin-D3. Levels below 20 ng/ml were described as vitamin D deficiency and levels of 2030 ng/ml as vitamin D insufficiency. RESULTS: The levels of 25-OH vitamin-D3 were statistically significantly lower when compared to the control group (17.1±9.4 vs. 25.8 ± 12.8 ng/mL, respectively; p < 0.001). This held true for both the HSE and LSE group compared to the control group (for the group 1; 24.6 ± 11.8 vs. 32.1 ± 10.6 ng/mL, respectively; p = 0.007, and for the group 2; 14.5 ± 6.8 vs. 19.6 ± 13.5 ng/mL, respectively; p = 0.003). Also in headache subgroups (migraine and TTH), vitamin D levels were significantly lower than the control group (17.3 ± 9.0, 16.9 ± 9.9 and 25.8 ± 12.8 ng/mL respectively; p < 0.001). CONCLUSION: There may be a relationship between vitamin D deficiency and headache, with particular significance in LSE. We suggest that this conclusion needs to be supported with randomised clinical studies containing a larger numbers of samples and controls.

Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome.

The concurrence of ambiguous genitalia, nephropathy and predisposition to Wilms' tumor are characteristics of Denys-Drash syndrome. Some of the reported patients do not express the full spectrum of the syndrome, while the occurrence of nephropathy has become a generally accepted common feature of this syndrome. We report an infant with male pseudohermaphroditism due to partial gonadal dysgenesis and nephropathy without Wilms' tumor but with a Wilms' tumor suppressor gene (WT1) mutation. The high risk of Wilms' tumor mandates regular surveillance and the use of prophylactic bilateral nephrectomy as a treatment is not yet clear.

Incorrect prescription of intravenous paracetamol in a pediatric patient.

Intravenous (IV) paracetamol is widely used for the treatment of pain and fever, when there is a clinical indication for an IV route. A 16-month-old girl weighing 12 kg had undergone anterior open reduction for developmental dysplasia of the hip. Twenty-four hours after the operation, IV paracetamol (Perfalgan® 10 mg/ml) infusion was started for the postoperative pain management. After 12 hours' infusion, she has developed nausea, vomiting and agitation. The liver function tests were found to be more than 10-fold elevated on the laboratory results. When the medication order was checked, it was shown that she had been administered paracetamol 5 times at a dose of 42 mg/kg (total: 2.5 g/30 hours or 168 mg/kg/24 hours). The patient was started on N-acetyl cysteine (NAC) therapy immediately. She was asymptomatic at the 36th hour of the NAC treatment and the liver function tests completely recovered over 15 days. Since the errors in the calculation of the dosage of IV paracetamol may lead to serious complications or even death, physicians should be careful not to miscalculate when preferring the IV form of the drug.