Osteopetrosis and Glanzmann's thrombasthenia in a child.

Autosomal recessive osteopetrosis is a rare, fatal disease characterized by accumulation of excessive bone mass due to defective bone resorption. The pathogenesis of osteopetrosis is controversial. Osteoblast-osteoclast interaction defects, incorrect differentiation of osteoclasts, abnormal contact between osteoclast and extracellular matrix, and abolished signaling are included in this process. Recently, mutations in the gene of the vacuolar proton pump have been described in some cases of recessive osteopetrosis. Glanzmann's thrombasthenia (GT) is a rare hereditary qualitative platelet disorder characterized by a lifelong bleeding tendency due to quantitative and qualitative abnormalities of the platelet integrin alpha(IIb) beta3. Several mutations on either integrin alpha(IIb) [glycoprotein (GP) IIb] or integrin beta(3) (GP IIIa) were reported in GT. We report on a patient with autosomal recessive osteopetrosis concurrently diagnosed with variant type Glanzmann's thrombasthenia. To our knowledge, our patient was the first case reported in the literature in which osteopetrosis and Glanzmann's thrombasthenia were diagnosed together.

Spontaneous haemothorax: an uncommon presentation of Glanzmann thrombasthenia.

UNLABELLED: Glanzmann thrombasthenia is a rare hereditary qualitative platelet disorder characterized by a lifelong bleeding tendency due to quantitative and qualitative abnormalities of the platelet integrin alpha(IIb)beta3. Common clinical manifestations include purpuric type skin bleeding, prolonged bleeding from minor cuts, epistaxis, gingival bleeding and menorrhagia. Less frequently, gastrointestinal system bleeding may occur. Haemarthrosis, haematuria, intracranial and visceral haemorrhage are very rare symptoms. This study reports a 3-y-old girl with Glanzmann thrombasthenia who presented with life-threatening haemothorax. There was no history of recent trauma or drug usage and no vascular or parenchymal abnormalities to explain the development of haemothorax. CONCLUSION: To the authors' knowledge this is the first case of Glanzmann thrombasthenia complicated by spontaneous haemothorax.

Nasal midazolam effects on childhood acute seizures.

Sixteen children, aged from 2 months to 14 years, with a diagnosis of acute seizures and seen at Dr. Sami Ulus Child Health and Disease Center, were included in this study. Midazolam (5 mg/mL) 0.2 mg/kg was administered intranasally in 30 seconds by an injector. The heart rate, respiratory rate, blood pressure, and oxygen saturation were recorded at 0, 5, and 10 minutes after administration. The seizures of three (18.7%) patients terminated within 1 minute, of seven (43.7%) patients in 1 to 2 minutes, and of three (18.7%) patients in 2 to 5 minutes. However, three (18.7%) patients did not respond to treatment. As a result, it was concluded that intranasal midazolam administration is easy and effective. The half-life of midazolam is shorter than diazepam, and midazolam has fewer complications when compared with diazepam. It is easier to use in nasal drop and spray forms.