Otocephaly (Agnathia)-Situs inversus complex with bilateral absence of mandibular nerves.

Otocephaly is a rare lethal neurocristopathy of first branchial arch, characterized by agnathia (agenesis of mandible), ventro-medial displacement and midline fusion of external ears (synotia), microstomia (small mouth) and aglossia (absence of tongue) or microglossia (small tongue). This anomaly is a consequence of failure of migration of neural crest cells from hind brain which contributes to the development of maxillary and mandibular prominences of the first arch. A female fetus of 28weeks gestation, spontaneously aborted, was received for autopsy. On external examination, the fetus exhibited ventrally placed malformed ears in the neck region, agnathia, microstomia and microglossia. Internal examination revealed situs inversus totalis, atrial septal defect and bilateral absence of mandibular nerves. Our case is unique, and here rendered for publication, due to association of otocephaly with situs inversus totalis in the absence of holoprosencephaly. We discuss current perspectives, literature review and molecular mechanisms implicated in otocephaly complex patterning.

Autoimmunity : Molecular Pathogenesis And Associated Oral Disease.

Autoimmunity can be defined as an immune response against self –antigens so called self-tolerance. The etiology is considered as multifactorial. Humoral or cellular immune mechanisms are responsible for various systemic and organ specific autoimmune diseases. Advances made in this field to know the immunopathology of autoimmune diseases affecting the oral tissues.

Tuberculous gluteal abscess in infancy.

Primary tuberculous gluteal abscess without bone involvement has not been reported in infancy. We report 3 infants with isolated tuberculous gluteal abscess who presented with gluteal swelling of 2 weeks, 1 month and 6 months duration, respectively. Tuberculin test was positive in all cases. Pus cultures from the gluteal abscess grew Mycobacterium tuberculosis in all 3 infants.

Tuberculosis associated hemophagocytic syndrome in infancy.

An infant presented with prolonged fever, generalized lymphadenopathy, splenohepatomegaly, anemia and seborrheic dermatitis. Investigations including bone marrow findings confirmed the diagnosis of hemo-phagocytic syndrome (HPS) and the infant succumbed. Liver biopsy features of epithelioid granuloma and positive AFB culture of gastric aspirate confirmed the diagnosis of tuberculosis (TB). This rare association of HPS and tuberculosis in infancy is reported.