A new PNPLA6 mutation presenting as Oliver McFarlane syndrome

Sheehan’s syndrome presenting as psychosis: a rare clinical presentation

 Sheehan’s syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan’s syndrome is often diagnosed late as it evolves slowly (2,3). Re...

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is the target of toxic organophosphates that induce human paralysis due to severe axonopathy of large neurons. Mutations in PNPLA6 also cause...

Sheehan’s Syndrome Presenting as Major Depressive Disorder

Sheehan’s syndrome or Simmond’s disease is a rare endocrine disorder seen in clinical practice. The clinical spectrum is diverse and a high index of suspicion together with a good clinical acumen and proper diagnostic approach helps in early diagnosis and prompt treatment of this endocrinopathy. Sheehan’s syndrome presenting as a major depressive disorder finds less mention in the literature.Th...

Adams-Oliver syndrome.

A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cuti...

Basal cell nevus syndrome presenting as a tender mass of the jaw: A case report