Franek Bocker kahlen syndrome
Overview
Franek-Bocker-Kahlen syndrome: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level
Symptoms
High blood sodium level Spasticity Brain defect Small head Mental retardation
Causes
Increased water loss –GI losses (diarrhea, vomiting, intestinal fistula) –Drugs (e.g., diuretics, alcohol, amphotericin B, phenytoin, propoxyphene, lithium, demeclocycline) –Sweating –Burns –Fever –Hyperventilation –Diabetes insipidus (central versus nephrogenic) –Severe burns –Alcohol use –Hyperglycemia (resulting in osmotic diuresis) –Diuresis phase of acute renal failure –Peritoneal dialysis –Thyrotoxicosis –Hyperthermia –Adrenal or renal failure Decreased water intake –Poor oral intake (e.g., in the elderly) –Inability to swallow water due to physical limitation (e.g., coma, access/mobility problems, swallowing problems) –Inability to recognize the need for water due to a hypothalamic lesion (e.g., CVA) –Impaired thirst –Inappropriate IV fluids (e.g., renal failure) –Tube feeding with inadequate free water Excessive sodium intake –Endocrine causes: Cushing's syndrome, ectopic ACTH, primary aldosteronism –Iatrogenic (e.g., inappropriately administered hypertonic saline, administration of sodium bicarbonate) –Sea water ingestion/drowning Renal salt retention –Mineralocorticoid excess (Conn's syndrome) –Cushing's syndrome –Congenital adrenal hyperplasia –Multiple myeloma –Sjögren's syndrome