Red cell aplasia in children is a condition characterised by failure of erythropoiesis, with normal production of white blood cells and platelets. The disorder is either acquired or constitutional (congenital or inherited). The constitutional disorder is usually permanent, while the acquired variety is often transient, and thereby differs from adult pure red cell aplasia. As the treatment and p...

A case of pure red cell aplasia in a simultaneous kidney-pancreas transplant recipient on immunosuppressive therapy is reported here. The patient presented with anemia unresponsive to erythropoietin treatment. Bone marrow cytomorphology was highly suggestive of parvovirus pure red cell aplasia, which was confirmed with serology and polymerase chain reaction positive for parvovirus B19 DNA in pe...

A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cuti...

Paranasal sinus anatomical anomalies with unknown etiology are common. Paranasal sinus–related diseases are associated with so high rate of morbidities, it becomes essential to identify the structure and pathophysiology of the paranasal sinuses. Computed tomography (CT) is a valuable tool in displaying its anatomy, any anatomic variations and diseases. As paranasal sinus development is a comple...

Patients undergoing antiviral therapy for chronic hepatitis C often develop anemia secondary to ribavirin and interferon. Recombinant erythropoietin has been used to improve anemia associated with antiviral therapy and to minimize dose reductions, which are associated with decreased rates of sustained virologic response. A rare potential side effect of recombinant erythropoietin is anti-erythro...

Tibial aplasia is an uncommon lower limb malformation that can occur isolated or be part of a more complex malformation pattern. We describe a 9-year-old boy born after uneventful pregnancy and delivery. Family history was negative for maternal diabetes and other malformations. The patient presented with left tibial aplasia and homolateral prexial foot polydactyly. He also displayed enamel dysp...

Aplasia cutis congenita (ACC) is a rare disorder, which is defined by the localized, or less commonly widespread absence of skin involving the epidermis, dermis and subcutaneous tissue with an incidence of 1/10.000 newborns. The underlying bone and dura mater can be also affected, and muscle and bone involvement occur in approximately 20 to 30% of the cases. Aplasia cutis congenita most often o...

INTRODUCTION Aplasia of the posterior arches of the atlas is an uncommon condition caused by a defect in their closure. It is usually associated with different syndromes. CASE REPORT We present 2 asymptomatic patients with aplasia of C1 posterior bodies. CONCLUSIONS Further studies are required on these lesions in order to take possible protection measures against trauma, and the selection ...

The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the d...

BACKGROUND Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. CASE CHARACTERISTICS 13-year-old Indian girl presented with deafness since infancy and progressive wrist wide...