Thanatophoric dysplasia (TD) is a congenital, sporadic, and the most lethal skeletal dysplasia caused by new mutation in the fibroblast growth factor receptor 3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies), and macrocephaly. TD is divided into two clinically defined subtypes: Type I and II which can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of preterm stillborn female baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, short limbs, narrow thorax, and protuberant abdomen delivered at our hospital to a 24-year-old multigravida mother with the previous history of first-trimester abortion. The antenatal ultrasound examination showed shortening of long bones with femur-shaped like a telephone receiver. Dysmorphic facial feature, skeletal abnormalities, and histopathological examination lead us to make the diagnosis of TD Type I. We report this case of TD in view of recurrence risk of around 1%, occurring mostly through autosomal dominant mode of inheritance, which may be the possibility in this case.
Osteochondromas are usually tumours of the long bones and occurs rarely in other bones. Osteochondroma of rib causing spinal cord compression is a rare presentation with only 8 cases reported in literature involving similar presentation in pediatric age group. Our case is a boy who presented with paraparesis of acute onset. All the usual suspects were ruled out. The cause was found to be a solitary lesion arising from the head of the 3rd rib causing cord compression. Laminectomy and decompression with excision of the lesion was done. On HPE it showed features of osteochondroma. Post operatively the child recovered well, the weakness and sensations improved.
Background:The clinical manifestations of sepsis are highly variable. The signs of both infection and organ dysfunction may be subtle, and thus the most recent international consensus guidelines provide a long list of warning signs of incipient sepsis. Lactic acid, which is a by-product of anaerobic metabolism, can be used as a marker of tissue hypoperfusion. It is being used widely. Procalcitonin has more recently been studied in children. Methods: Totally 60 Children admitted with Septic Shock in PICU between Ages 3 Months to 12 Years were assessed for Serum Lactate & Serum Procalcitonin levels. Evaluation of the biomarkers was done on individual and combinational basis using receiver operating characteristics curve. Results: Out of 60 children, male were 40, female were 20 children. In stage-1 serum lactate level was 47.83 (mg/dl) sensitivity is about 35.63 and specificity was 63.82 off p-value <0.065**.In stage -2 serum procalcitonin was 49.62 (mg/dl) sensitivity is about 37.77 and specificity was 69.28 off p-value <0.549**.In stage -3 serum procalcitonin was 52.89 (mg/dl) sensitivity is about 41.63 and specificity was 73.89 off p-value <0.651** Conclusions: Early recognition of risk factors will help in timely appropriate therapy and thereby will help in reducing mortality and morbidity in pediatric septic shock. The results suggest that PCT is valid for auxiliary diagnosis of septic conditions in children and used as an indicator of the severity of patients.
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