Esophageal atresia with tracheoesophageal fistula: two case reports.

BACKGROUND: The incidence of esophageal atresia with tracheoesophageal fistula is 1 out of 3000-5000 live births. Its incidence in lower middle income countries is not known. The infants usually present with excessive secretions or choking while feeding and are at risk for aspiration. The outcome of these infants in lower middle income countries is not encouraging due to delays in referral, sepsis at presentation requiring preoperative stabilization, postoperative complications such as anastomosis leaks, pneumonia, and pneumothorax. CASE PRESENTATION: We present two African babies who were term infants at age 2 days (male) and 5 days (female) with diagnosis of esophageal atresia and tracheoesophageal fistula. The 5-day-old infant required preoperative stabilization due to sepsis and delayed surgery with a poor postoperative outcome. The 2-day-old infant was preoperatively stable and had a good postoperative outcome. The challenges faced in management of these two cases have been highlighted. CONCLUSION: Outcome of infants with esophageal atresia and tracheoesophageal fistula in lower middle income countries is not encouraging due to delays in referral and poor postoperative healing attributed to sepsis and recurrent pneumothorax. Timely referral, preoperative condition of the infant, and timely management has shown to be a contributory factor for an improved outcome.

Osteogenesis imperfecta type VIII: highlighting the need for genetic testing.

We report a severe form of osteogenesis imperfecta (OI) type VIII from a lower-middle income country. This is the first case report of this type in Tanzania. The term neonate was delivered normally via spontaneous vaginal delivery and presented at the neonatal unit with features of shortened limb girdles and macrocephaly. The long bones had multiple fractures. He was diagnosed clinically to have OI or a type of metaphysial dysplasia. A plain X-ray showed multiple fractures of the long bones. The eyes did not have blue sclerae. Clinically, the generic diagnosis of OI was made.Genetic testing revealed typical prolyl 3-hydroxylase 1 (P3HI) gene mutations and a variant coordinate NM_001243246.1:c.1095C>G p, indicating a severe, fatal form of autosomal-recessive OI type VIII which presents with white sclerae. This rare variant is described here for the first time in our setting. This case highlights the need for genetic testing.

Late diagnosis of congenital diaphragmatic hernia: a case report.

BACKGROUND: Congenital diaphragmatic hernia beyond the neonatal period is not uncommon. Its diagnosis in infancy and early childhood poses a challenge owing to different clinical presentation ranging from gastrointestinal to respiratory symptoms. These neonates are usually misdiagnosed as having pneumonia until radiological imaging picks up the defect during routine scan for worsening respiratory symptoms. In high-income countries, the survival rate for these patients has been reported to be high, while in Sub-Saharan Africa the survival rate is still low due to delayed diagnosis, delayed referral, and hence delayed management. CASE REPORT: We present an African male baby from non-consanguineous parents, 6 weeks old, diagnosed with congenital diaphragmatic hernia at 6 weeks of age after failure to respond to antibiotics for suspected pneumonia. Despite attempts at management, he died at 5 weeks post surgery. CONCLUSION: Our case emphasizes the importance of early clinical suspicion and early detection for a differential diagnosis of congenital diaphragmatic hernia in infants who present with respiratory symptoms not responding to antibiotics or recurrent pneumonia, and improving the availability of imaging in primary care facilities to diagnose such defects early and manage them accordingly.

An 8-year-old-girl with juvenile dermatomyositis and autoimmune thyroiditis in Tanzania: a case report.

BACKGROUND: Juvenile dermatomyositis is an inflammatory disease of muscles, skin, and blood vessels of unknown cause affecting all age and ethnic groups, with a reported incidence of 1.9-4.1 per million. It manifests with weakness in axial and proximal muscles and typical skin lesions. Historically, the Bohan and Peter classification schema has been used to diagnose juvenile dermatomyositis. CASE PRESENTATION: We report an 8-year-old African female child, who presented with features of juvenile dermatomyositis and a rare association with subclinical autoimmune thyroiditis. This case illustrates the typical presentation, diagnosis, and treatment outcomes of this highly misdiagnosed condition. CONCLUSION: Due to the limited resources and knowledge about this under-reported disease in resource-constrained settings, the characteristic manifestations of juvenile dermatomyositis can be easily missed and thus requires a high index of suspicion for earlier diagnosis and management.