Rahul Sinha

A rare case of congenital insensitivity to pain and anhidrosis with seizure disorder

Congenital pain insensitivity and anhidrosis is an extremely rare disorder characterized by lack of pain sensation, painless injuries of the arms, legs and oral structures, hyperthermia during hot weather because of inability to sweat, mental retardation, infection and scarring of the tongue, lips and gums, chronic infections of bones and joints, bone fractures, multiple scars, osteomyelitis and joint deformities. We report this rare case in a 2-year-old girl who presented with recurrent episodes of high-grade fever with anhidrosis, dry fissured skin, self-mutilation, tooth loss. She also had three episodes of generalized tonic-clonic seizure during afebrile period. This case report highlights the rare association of congenital insensitivity to pain and anhidrosis with seizure disorder.

A case of 9p deletion syndrome with Duane retraction syndrome.

The chromosome 9p deletion syndrome is a rare but specific clinical event. The clinical manifestations include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, and a long philtrum) and psychomotor retardation. Here we report a child with chromosome 9p deletion with Duane retraction syndrome, which has never been reported in the literature before.

A Rare Case of Evan Syndrome with Portal Hypertension

Evan’s syndrome was first described in 1951 by Evan’s and associates. It has long been considered as a coincidental combination of ITP and AIHA and or immune neutropenia in the absence of any underlying cause. We report this rare condition in a 9-year-old male who presented with severe pallor and multiple ecchymotic patches over arms and abdomen with portal hypertension.

A rare case of acute lymphoblastic leukaemia with hemophilia A

A rare case of Acute lymphoblastic leukemia with hemophillia in a 12 year old boy is presented in the article. Patient was known case of hemophillia (factor VIII deficiency). He was diagnosed as a case of ALL based on bone marrow examination and immunophenotypic study. Patient was treated as per Children Cancer group guidelines. The main aim of reporting this rare association lies in developing treatment strategies in preventing life threatening bleeding due to this rare association which though may be accidental but need further research.