Perry syndrome is characterised by rapidly progressive parkinsonism often accompanied by depression/apathy, weight loss and central hypoventilation. Continue reading
The Berlin definition, proposed in 2012, breaks with tradition by establishing three risk strata that are based on the degree of hypoxemia as assessed at a minimum positive end-expiratory pressure (PEEP).
The initial screening for hereditary breast and ovarian cancer syndrome should include specific questions about the patient’s personal and family history of breast and ovarian cancers, risk assessment, education, and counseling.
Sézary Syndrome corresponds to 3% of all cutaneous lymphomas, and it is characterized by a triad of manifestations: erythrodermia with pruritus, limphonodomegalia and atypical circulating lymphocytes (referred to as Sézary or Lutzner cells). Associated clinical manifestations include lagophthalmos, alopecia, palmoplantar hyperkeratosis and onycodystrophy. Erythrodermia may be the progression of previous patches and plaques, developing from idiopathic erythrodermia or emerging de novo.
Fat embolism syndrome, a condition characterized by hypoxia, bilateral pulmonary infiltrates, and mental status change.
Serotonin syndrome is a potentially life-threatening condition resulting from increased CNS serotonergic activity that is usually drug related. Symptoms may include mental status changes, hyperthermia, and autonomic and neuromuscular hyperactivity.
Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2).
Marfan syndrome is currently diagnosed using criteria based on an evaluation of the family history, molecular data, and 6 organ systems.
The Guillain-Barre syndrome (GBS) or Landry-Guillain-Barre-Strohl syndrome, also known as post-infectious polyneuropathy or acute idiopathic polyneuritis, is an acute acquired, frequently severe, monophasic autoimmune illness of the peripheral nervous system (PNS). GBS manifests itself with the clinical picture characterised by gait disturbance, pain, weakness, rapidly ascending symmetric flaccid muscle paralysis, areflexia with distal predominance (involving lower motor neuron), sensory disturbance, variable autonomic involvement, and increased cerebrospinal fluid protein without pleocytosis.
The evaluation of patients with suspected Cushing’s syndrome (CS) is complex and expensive, and the diagnosis is often a challenge for clinicians. Most patients initially suspected of having CS will not have this condition, and therefore efficient screening procedures are needed to identify the few patients who will need additional investigation in specialized centers.