Thanatophoric dwarfism in Libyan neonates — a report of 3 cases

Three cases of thanatophoric dwarfism are reported from Libya during a period of 16 months showing an incidence of 1:5600 total births. Polyhydramnios was associated with all the three cases and maternal diabetes in one. No known pattern of inheritance was found. One was stillborn and other two died within 30 minutes of birth. The detailed diagnostic features and differential diagnosis is described along with a brief review of literature.     

Pelvic lipomatosis in a child

We report a 10-year-old boy with pelvic lipomatosis causing chronic urinary retention. CT scan features, therapy and review of the literature are discussed.     

Anterior chemotherapy in esophageal cancer

Front loading chemotherapy using methotrexate (200 mg/m2) alone or methotrexate (200 mg/m2) with cisplatin (20 mg/m2 daily for 5 days) was used in epidermoid carcinoma of esophagus. Evaluation after two courses showed objective response of 50% or greater in 48% of patients with methotrexate alone. Response rate was increased to 76.2% with addition of cisplatin to methotrexate. Small lesions (less than 10 cm) showed better response as compared to advanced cases. Therapy was generally well tolerated and good palliation was obtained even after the first course. Postchemotherpy treatment either with surgery or radiotherapy was tolerated without any major complications. The data confirm the short-term usefulness of initial chemotherapy with methotrexate and cisplatin in esophageal cancer. Results of prolonged follow-up will help to evaluate the role of front loading chemotherapy on long-term survival.     

Timing of surgery following spinal cord injury

BACKGROUND: The optimal timing for surgical intervention after traumatic spinal injuries with spinal cord injury remains unclear. DESIGN: Literature review. FINDINGS: Multiple laboratory investigations (in animal models) and many clinical studies suggest better neurological outcomes with early surgical intervention. Conclusive evidence (well-designed randomized, controlled studies), however, is lacking, partly due to the logistics involved in executing such an investigation. Early surgery also appears to decrease the incidence of complications, reduces hospital stay, and helps reduce costs associated with acute management. CONCLUSION: Early surgical treatment is beneficial in terms of reducing complications, length of stay, and hospital costs. Further studies are needed to clearly demonstrate the impact of operative timing on neurological outcome.     

Posttraumatic pediatric distal tibiofibular synostosis: a case report

INTRODUCTION: Posttraumatic pediatric distal tibiofibular synostosis is a rare complication of fractures at this level, unreported at this time. Implications include limb length discrepancy, angular malalignment, and gait and biomechanical abnormalities. MATERIALS AND METHODS: The authors present a case report of this complication in a 7-year-old child and review the relevant English literature. The patient was treated for a closed distal tibia-fibula fracture and developed a synostosis at that level, with valgus malalignment of the ankle joint. The synostosis was resected and latest follow-up 16 months postresection showed near normalization of the ankle malalignment. Possible etiologies, the anatomical and functional ramifications, and treatment recommendations for this condition are discussed. SUMMARY: Posttraumatic tibiofibular synostosis is a rare complication that has a potential effect on limb length and alignment, both at the ankle and the knee in the skeletally immature patient. Prevention, early recognition, and prompt treatment prevent the anatomic and functional abnormalities that could result from it.     

Cryptococcus infection in tropical Australia

Eighteen cases of disease caused by the saprophytic fungi Cryptococcus neoformans and Cryptococcus bacillisporus are described from the Northern Territory of Australia. The majority of infections were with Cryptococcus bacillisporus and in the rural Aboriginal population, often causing pulmonary mass lesions.