De Barsy Syndrome: A Case Report of a Rare Genetic Disorder

Abstract

De Barsy syndrome (DBS) is an exceedingly rare autosomal recessively inherited genetic disorder that manifests as premature aging with progeroid features. Typically, the skin loses its elasticity, causing laxity, wrinkling, and sagging. Other characteristics include ophthalmological, orthopedic, and neurological abnormalities. As of 2011, only 27 DBS cases had been recorded. This paper reports the case of a two-dayold female infant who was referred to the pediatrics department with complaints of lax skin, a progeroid appearance, a short stature, hazy corneas, and bilateral claw-like hands with thin overlapping fingers. She also had features of pectus excavatum and visible veins over her chest and abdomen. There was a history of third-degree consanguineous parents in this patient. This patient was diagnosed with De Barsy syndrome due to findings on the Verhoeff Van Gieson staining, which demonstrated a marked decrease in elastic tissue fibers. Palliative care was recommended for this infant. We report this case considering its extreme rarity.

Guardians of Immunity: Advances in Primary Immunodeficiency Disorders and Management

“…Currently, there is no specific cure for DiGeorge syndrome. The management of this condition involves addressing the symptoms and complications associated with the syndrome [ 34 ]. The treatment approach is typically multidisciplinary and may involve various medical specialists such as immunologists, cardiologists, and endocrinologists [ 34 ].…”

“…The management of this condition involves addressing the symptoms and complications associated with the syndrome [ 34 ]. The treatment approach is typically multidisciplinary and may involve various medical specialists such as immunologists, cardiologists, and endocrinologists [ 34 ]. One of the main focuses of treatment is managing the immunodeficiency aspect of DiGeorge syndrome [ 34 ].…”

“…The treatment approach is typically multidisciplinary and may involve various medical specialists such as immunologists, cardiologists, and endocrinologists [ 34 ]. One of the main focuses of treatment is managing the immunodeficiency aspect of DiGeorge syndrome [ 34 ]. This may include administering prophylactic antibiotics to prevent frequent infections and vaccinating patients against common pathogens [ 34 ].…”

“…One of the main focuses of treatment is managing the immunodeficiency aspect of DiGeorge syndrome [ 34 ]. This may include administering prophylactic antibiotics to prevent frequent infections and vaccinating patients against common pathogens [ 34 ]. In some cases, immunoglobulin therapy may be recommended to provide the individual with antibodies that they may be lacking [ 34 ].…”

“…This may include administering prophylactic antibiotics to prevent frequent infections and vaccinating patients against common pathogens [ 34 ]. In some cases, immunoglobulin therapy may be recommended to provide the individual with antibodies that they may be lacking [ 34 ]. Furthermore, individuals with DiGeorge syndrome may require surgical intervention to repair any congenital heart defects present [ 34 ].…”