Aplasia of the nose is a very rare, congenital anomaly in our field. It emerges as a complete absence of the external nose and all nasal cavities on both sides, or an absence of one half of the nose and its associated nasal cavity. The latter case is called "halfnose." Etiologically, it is akin to tubular proboscis, anomaly with a snout-like nasal appendage on, or by the mid-line of the face. T...

Primary asplenia is a rare condition with poorly known etiology. Mowat-Wilson syndrome (MWS) is characterized by typical facial dysmorphisms, intellectual disability, microcephaly, epilepsy and the possible presence of internal organ malformations. It is caused by heterozygous mutations or deletions in the ZEB2 gene. Nearly 180 patients have been reported to date, but only one with asplenia. We...

Pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. We report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. The case brings in forth the importance of investigating any infant presenting with features of c...

Splenic Lymphoma with villous lymphocytes (SLVL) is a B cell chronic lymphoproliferative disorder defined in the WHO classification as the leukemic form of splenic marginal zone lymphoma. Autoimmune diseases or second neoplasms in patients affected by B cell chronic lymphoproliferative disorders are well known conditions after fludarabine containing regimens (above all in the case of Chronic Ly...

Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of th...

Congenital lung anomalies are categorised as pulmonary agenesis, aplasia and hypoplasia with distinct clinical implications. An 8-year-old boy was referred for an opaque left hemithorax for which he had received antituberculous therapy. A detailed evaluation including flowing contrast computed tomography of the thorax and fiberoptic bronchoscopy led to a diagnosis of left lung aplasia. He also ...

B19 parvovirus (PV) infection is ordinarily resolved with the production of specific antibodies that neutralize virus infectivity for erythroid host cells. Nevertheless persistent infection with B19 PV and pure red blood cell aplasia have been documented. A 27 year-old male. i.v. drug abuser, HIV+ and HCV was diagnosed of pure red cell aplasia. Six months later we had serologic evidence of pers...