Two Case Reports of Familial Chylomicronemia Syndrome

Two Case Reports of Familial Chylomicronemia Syndrome

Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.

PRKAR1A-negative familial Cushing’s syndrome: two case reports

INTRODUCTION Determining the etiology of Cushing's syndrome is very challenging to endocrinologists, with most of the difficulty arising from subtype differentiation of adrenocorticotropic hormone-dependent Cushing's syndrome. We present the pitfalls of evaluating a rare cause of adrenocorticotropic hormone-independent Cushing's syndrome in the transition period between adolescence and adulthoo...

Otodental syndrome: three familial case reports.

Familial perimesencephalic subarachnoid hemorrhage: two case reports

INTRODUCTION Non-aneurysmal spontaneous subarachnoid hemorrhage is characterized by an accumulation of a limited amount of subarachnoid hemorrhage, predominantly around the midbrain, and a lack of blood in the brain parenchyma or ventricular system. It represents 5% of all spontaneous subarachnoid hemorrhage cases. In spite of extensive investigation, understanding of the mechanisms leading to ...

Omenn syndrome: two case reports.

Omenn syndrome is a variant of combined severe immunodeficiency due to mutations in RAG genes. It is characterized by polymorph symptoms and lethal outcome. We report on two cases of Omenn syndrome. Infants were aged 50 and 46 days. The clinical and biological signs were typical and complete in the first case. In the second case, only the cutaneous signs were present. Diagnosis was confirmed by...