Endocrine Abstracts

Leopard syndrome (LS) is a rare autosomal dominant disease of variable penetrance and clinical expression. LEOPARD is an acronym for the major features of the disorder: lentigines, ECG conduction abnormalities, Ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. LS is caused by different mutations in PTPN11 gene (protein-tyrosine phosphatase, nonreceptor-type, 11), allelic with Noonan syndrome (NS). The diagnosis is established if...

Background: Prolactinoma is the most frequent pituitary tumour. However, peculiar aspects may induce difficulties in their evolution and management. Malignant prolactinoma is exceptionally rare and it cannot be diagnosed on histological grounds alone. We report the case of a recurrent, possibly malignant macroprolactinoma.Case report: 46 years old female, addressed for bitemporal hemianopia, without other clinical signs. MRI confirmed a pituitary macroad...

Introduction: Hypothalamic–pituitary–adrenal (HPA) axis activation is the main neuroendocrine response to an environmental challenge. Drug abuse may activate HPA axis by interaction with neuromodulation systems.Case report: 28 year old man, was admitted in the Neurology Department for persistent headache with spinal irradiation. With suspicion of multiple sclerosis, MRI revealed pituitary macroadenoma (14 mm diameter) and subcortical, paraventr...

Introduction: The coexistence of pituitary adenoma and meningiomas is very rare. It is debatable if meningiomas result as a consequence of hormone dependent growth or secondary to radiation.We report a rare case of coexisting brain tumors: a prolactin secreting pituitary adenoma and two meningiomas in a 54-year-old female patient.Case report: Onset at 46 years with bitemporal hemianopsia, without other clinical complaints. MRI conf...

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In February 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...