Acute renal failure in childhood affects 4/1 million inhabitants/year, most common cause is the haemolytic-uremic syndrome (HUS), others are ischemic and toxic conditions and dehydration. Case report: The 16-year-old girlpresented with nausea since 1 week, furthermore she developed vomiting, headache, jaundice and temperatures to 38.9°C. Laboratory findings on admittance: uremia, haemolytic anemia, hyperglycemia, elevated bilirubin, mildly elevated liver enzymes but normal parameters for liver synthesis. At no time enterohemorrhagic E. coli bacteria or Shiga toxin could be found. A thorough search of the patients medical records showed a further episode with elevated liver enzymes at 8 years of age with no obvious cause. A liver biopsy at that time showed fatty degeneration but no other abnormalities. The diagnosis of Wilsons disease could now be established on laboratory findings and extremely elevated copper content of liver tissue taken recently. Conclusion: In the case of our patient presenting with typical haemolytic-uremic syndrome we were able to determine copper with its toxic effects on various organs as the underlying, rare cause of condition. Manifestation of Wilsons disease started under the clinical picture of haemolysis and uremia, neurologic symptoms were completely absent. In the differential diagnosis of haemolytic-uremic syndrome only the fewest patients will suffer from Wilsons disease, but we like to stress the fact that early diagnosis is important for liver failure is imminent and does unfortunately not correlate with alterations in liver parameters.
Nystagm is found as a symptom in different conditions that can affect various organs of the body. It always requires sophisticated diagnostic procedures, including radiologic imaging, consultation of ENT and ophthalmologic specialists and electrophysiological measurements. Case report: The child presented with ocular flutter that parents noted from about the 9th week after birth, otherwise he had developed normally so far. MRI of the brain showed enlargement of internal and external cerebrospinal space, so that a neurodegenerative disorder was suspected. On examination cerebrospinal fluid had normal cell count and differenciation, protein and lactat content. The diagnosis was made by the experienced ophthalmologist, who discovered altered pigmentation in iris and retina, disclosing ocular albinism. Visual evoked potentials showed an asymmetry in cortical potentials that confirmed the diagnosis. Conclusion: Underlying disorder causing the nystagm in our patient is an ocular albinism. Albinism is caused by a disorder in biosynthesis and distribution of melanin, it affects about ½0,000 people. In the case of our patient the enlargement of cerebrospinal space and albinism seem to appear coincidentally, further ophthalmologic and neuropediatric follow-ups are definitely necessary.