Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report.

Niemann-Pick disease (NPD) is an autosomal recessive disease caused by deficient lysosomal enzyme or faulty cholesterol transport. A 9-year-old male patient presented with 6 years of abdominal swelling, previously treated as tuberculosis. He exhibited hepatosplenomegaly, delayed growth, and pancytopenia.

Congenital Aortic Arch Malformation Presenting as Bilateral Pulsatile Neck Mass: A Unique Case Report.

Vascular malformations of the aortic arch and its main branches such as cervical aortic arch and high-riding brachiocephalic artery can present as pulsatile neck swelling. Although this entity is rare, an initial Doppler ultrasound is suggested before intervention to avoid complications from unidentified aberrant vessels.

Right-sided Aortic Arch with Aberrant Left Subclavian Artery arising from Kommerell's Diverticulum: A case report.

Right-sided aortic arch, first documented by Fioratti and Aglietti in 1763, is a rare variant of the thoracic vascular anatomy present in about 0.1% of the adult population. In half of these cases the left subclavian artery is also aberrant.

Preiser's disease in teenage female: A rare case report.

Preiser's disease or idiopathic avascular necrosis of the scaphoid is a rare condition where ischemia and necrosis of the scaphoid bone occurs without previous fracture. It is thought to be caused by repetitive micro trauma or side effects of drugs (e.g.

Emerging technologies in pediatric radiology: current developments and future prospects.

Radiological imaging is a crucial diagnostic tool for the pediatric population. However, it is associated with several unique challenges in this age group compared to adults. These challenges mainly come from the fact that children are not small-sized adults and differ in development, anatomy, physiology, and pathology compared to adults.

Tibial Adamantinoma: A Case Report from a Resource-Limited-Setting.

Introduction: Adamantinoma is an infrequent, low-grade malignant bone tumor, predominantly affecting the tibia and often presents diagnostic challenges due to its nonspecific radiographic characteristics.

Case Presentation: A 55-year-old military personnel, with no history of trauma, who presented with a one-year history of right leg swelling and pain. Radiological examination showed right anterior tibial, mid diaphyseal lytic expansile lesion with internal trabeculations and excisional biopsy led to the diagnosis of adamantinoma.

Intraocular tuberculosis masquerading as ocular tumor: A case report.

Tuberculosis is one of the most common pediatric problems, especially in the developing world. In spite of that, intraocular tuberculosis is a rare disease that can easily be confused with other noninfectious processes, even in regions where tuberculosis is rampant. Diagnosis is difficult, yet it is very important to provide effective antituberculosis treatment and avoid potentially sight-losing interventions.

Ascariasis: A common disease with uncommon presentation in a resource limited setting. A case report.

Ascaris-induced intestinal obstruction is a rare complication primarily seen in children in areas with a high prevalence of worm infestations. It can occur through 2 mechanisms: immune-mediated reactions releasing neurotoxins that cause contractions and inflammation in the small intestine (aperistalsis), or mechanical obstruction by adult worms, commonly at the ileocecal valve. Partial obstructions are managed conservatively, while complete obstructions often require surgical intervention.

Rare presentation of a rare disease: Bilateral congenital lobar overinflation.

Congenital lobar overinflation is a rare but well-recognized congenital cause of neonatal and infantile respiratory distress. At times, the condition can mimic other congenital or acquired diseases and have atypical distribution and imaging patterns. Lobectomy of the involved lobe(s) is curative.

Diagnostic accuracy of barium enema versus full-thickness rectal biopsy in children with clinically suspected Hirschsprung's disease: A comparative cross-sectional study.

Background And Aims: Hirschsprung's disease (HSD) remains a common cause of pediatric intestinal obstruction. Barium contrast enema (BE) is the primary imaging modality for the evaluation of clinically suspected cases. Here, we aimed to assess the diagnostic accuracy of BE in children with clinically suspected HSD when compared to a gold standard full-thickness rectal biopsy (FTRB).

Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus.

Jarcho-Levin syndrome (JLS) is a congenital dysostosis characterized by multiple vertebral and intrinsic rib abnormalities. JLS and neural tube abnormalities rarely occur together. There have been few cases of JLS associated with a split spinal cord malformation (diastematomyelia).

Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report.

Beckwith-Wiedemann syndrome (BWS) is a rare imprinting disorder and overgrowth syndrome with a prevalence of 1 in 10,000 live births. It is characterized by predilection for embryonal tumor growth, especially Wilms tumor (WT), and manifestations like lateralized overgrowth/hemihypertrophy, macroglossia, macrosomia, anterior abdominal wall defects, and hyperinsulinism. Our case is a 1 year of female child who presented with abdominal swelling and limb length discrepancies.

Generalized arterial calcification of infancy in a neonate with acute kidney injury: A rare case report.

Generalized arterial calcification of infancy (GACI) is a rare condition characterized by diffuse arterial calcification within the internal elastic lamina associated with intimal proliferation leading to stenosis of great and medium-sized vessels, which causes end-organ damage and loss of life during infancy. The clinical presentation of acute renal failure with normal cardiac function is rare. A 7-day-old female neonate was admitted with a clinical impression of late-onset neonatal sepsis, meningitis, and acute kidney injury after developing a high-grade fever, abnormal body movements, and vomiting of the ingested matter associated with decreased urinary output.

Congenital extrahepatic portosystemic shunt masquerading as chronic portal vein thrombosis: A case report.

Introduction And Importance: Congenital extra hepatic portosystemic shunt (CEPS) is a rare vascular malformation in which splanchnic and portal blood is shunted into the systemic circulation eluding the liver. Type 1 CEPS is sometimes difficult to differentiate from pathologies such as chronic portal veinthrombosis as the portal vein may not be visualized in either entities.

Case Presentation: A 3-year-old male child with a week of abdominal pain was diagnosed with chronic portal vein thrombosis in an out-of-hospital setting.

Establishing pediatric radiology in a low-income country: the Ethiopian partnership experience.

In 2008, a partnership between the academic pediatric radiology department at the Children's Hospital of Philadelphia in the USA and the radiology department at Tikur Anbessa Specialized Hospital in Ethiopia, was established. The partnership aims to support pediatric radiology education during radiology residency and to establish pediatric radiology subspeciality training in Ethiopia. In this paper, we review the needs that elicit this type of partnership, its structure, achievements, challenges and future state as a successful roadmap to the establishment of a high-impact subspeciality program in a bilateral partnership.

Isolated renal hydatid cyst in a ten-year-old female child: A rare case report.

Hydatid cyst is a zoonotic disease caused by CestodaEchinococcus, especially Echinococcus granulosus. Isolated renal hydatidosis is an extremely rare clinical condition associated with nonspecific symptoms and physical findings. Diagnosis can be difficult and depends on imaging findings and histologic examination of excised tissue specimens.

Giant pulmonary artery aneurysm in a child: Rare complication of congenital heart disease.

Key Clinical Message: This case report aims to increase awareness that pulmonary artery aneurysms may occur as a complication of neglected patent ductus arteriosus and should be sought in children with ill-treated congenital heart diseases.

Abstract: Pulmonary artery aneurysm is a rare anomaly with an autopsy prevalence of 1:14,000. These aneurysms can arise secondary to various etiologies, with congenital causes identified in 25% of cases and congenital heart diseases (CHD) responsible for more than half of these cases.

Dorsolumbar parasitic twin associated with lipomyelomeningocele: a case report from a tertiary teaching hospital, Ethiopia, East Africa.

A parasitic or heteropagus twin is a grossly defective fetus (or fetus part) attached externally, with or without internal connections and is dependent on the cardiovascular system of the other twin (autosite) for survival. The estimated incidence is approximately 1 per 1 million live births. To date according to the authors' knowledge; there are a few case reports published in the literature.

KARTAGENER'S SYNDROME: A CASE REPORT.

Kartagener's syndrome is a rare autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by Pseudomonas infection. In this case report, we present a 12-year old female with Kartagener's syndrome from Tikur Anbessa Teaching Hospital which to our knowledge is the first of it's kind to be reported in Ethiopia.