Bonneman Meinecke Reich syndrome
Overview
A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
Symptoms
* Impaired vision * Dwarfism * Short stature * Impaired motor development * Mental retardation * Spasticity * Incoordination * Retinal degeneration * Impaired vision * Dwarfism * Short stature * Impaired motor development * Mental retardation * Spasticity * Incoordination * Retinal degeneration
Causes
Hepatic encephalopathy follows rising blood ammonia levels. Normally, the ammonia produced by protein breakdown in the bowel is metabolized to urea in the liver. When portal blood shunts past the liver, ammonia directly enters the systemic circulation and is carried to the brain. Such shunting may result from the collateral venous circulation that develops in portal hypertension or from surgically created portosystemic shunts. Cirrhosis further compounds this problem because impaired hepatocellular function prevents conversion of ammonia that reaches the liver. Other factors that predispose rising ammonia levels include excessive protein intake, sepsis, excessive accumulation of nitrogenous body wastes (from constipation or GI hemorrhage), and bacterial action on protein and urea to form ammonia. Certain other factors heighten the brain’s sensitivity to ammonia intoxication: hypoxia, azotemia, impaired glucose metabolism, infection, and administration of sedatives, narcotics, and general anesthetics. Depletion of the intravascular volume, from bleeding or diuresis, reduces hepatic and renal perfusion and leads to contraction alkalosis. In turn, hypokalemia and alkalosis increase ammonia production and impair its excretion.
Treatment
Effective treatment stops the progression of encephalopathy by reducing blood ammonia levels. Such treatment eliminates ammonia-producing substances from the GI tract by: * administration of lactulose to reduce the blood ammonia levels and use of sorbitol-induced catharsis to produce osmotic diarrhea; neomycin therapy may be added if lactulose alone doesn’t reduce ammonia levels * reduction of dietary protein intake * continuous aspiration of blood from the stomach.