Anaemia is common among human immunodeficiency virus (HIV)-infected patients. It may be directly attributable to the virus or may be caused by opportunistic infections, neoplasms or drugs that cause either bone marrow suppression or haemolysis. Pure red cell aplasia (PRCA) is an uncommon haematological disorder that causes severe transfusion dependant anaemia. We report a 36 year-old female wit...

In 1863, Michel described a condition characterized by a total absence of differentiated inner ear structures associated with other skull base anomalies, including an abnormal course of the facial nerve and jugular veins. Michel aplasia clearly differs from Michel dysplasia, in which arrest of embryologic development occurs later. Recently, the role of otic capsule formation on mesenchymal diff...

Diphenylhydantoin (DPH) therapy, often used in treating epileptic seizures, can cause anemia in some patients. A 26-year-old female suffered from convulsions due to encephalitis and was placed on DPH therapy. About two months after the initiation of DPH therapy, her hemoglobin level was 3.8 g/dL. Her anemia improved after the discontinuation of DPH, confirming that the anemia was caused by DPH....

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, meta...

Extralobar sequestration with other bronchopulmonary malformations is commonly seen; however, the association of extralobar sequestration with renal aplasia is very rare. A 75-year-old female patient was admitted with back pain. Ultrasonography revealed aplasia of the left kidney and tomography showed 6 × 4.5 cm sized tumor in the left hemithorax at the posterobasal area. The lesion has focally...

Aplasia cutis congenita (ACC) is a rare skin disorder, the cause is not known but intrauterine infections, drugs, chromosomal and genetic disorders, vascular compromise and trauma have been implicated. Clinically the diagnosis is made based on physical findings indicative of intrauterine disruption of skin development. We present an eighteen hours old neonate with Aplasia cutis congenita, this ...

Congenital absence of the parathyroid glands may be associated with congenital absence of the thymus (Lobdell, 1959). This is not surprising as both structures arise together from the 3rd and 4th branchial pouches. In the same way, vascular anomalies of the 3rd and 4th branchial arteries are found to be associated with abnormalities of the thymus, including thymic aplasia (Cameron, 1965). A pat...

Most of the patients who present with congenital sensorineural hearing loss (SNHL) do not demonstrate an imaging abnormality. Only 39% of patients with congenital SNHL have a documented imaging abnormality, with large vestibular aqueduct syndrome being the most common of the congenital anomalies to be identified on imaging. Congenital anomalies of the semicircular canals can result in SNHL. Dys...

O ver the past five years second generation assays for hepatitis C virus (HCV) have led to an improvement in its detection. Accordingly, descriptions of hepatitis C-associated aplastic anemia have been reported. However, cases of non-A, non-B, non-C hepatitis associated aplasia have been described recently. Such a fact suggests that a non-A, non-B, non-C agent might be implicated in many cases ...

Juvenile Paget's disease (JPD) is a rare skeletal disorder that's characterized by bone demineralization and elevated levels of serum alkaline phosphatase. JPD involves the paranasal sinuses in extremely rare cases. We report here on a 25-month-old Asian male who was diagnosed of JPD associated with aplasia of the paranasal sinuses, but not the ethmoid sinuses. The patient was successfully trea...