Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. IP belongs to rare diseases involving skin pathological findings, together with neurological and ophthalmological disorders. We here report a two-year old girl with typical symptoms of the IP. A hitherto unreported feature is partial deletion of short arms of one of the chromosomes 15, found in the girl and in her mother. Using an automatic chromosome picture analyzer, a densitometric analysis of the aberration was carried out, in order to determine the break point and to compare the normal and deleted chromosomes.

Chromosome Aberrations↗

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[Vitamin D metabolism in children with malabsorption syndrome].

In 16 children with malabsorption syndrome, out of which 5 had impaired lipid absorption or diarrhoea, and in 14 children in the control group the concentrations of vitamin D and 25 OH D3 were determined after oral administration of vitamin D in dose of 1200 U/kg.b.wt. or 12000 U/kg.b.wt. No decrease in initial 25 OH D3 concentrations was noted in children with malabsorption syndrome (40,5 +/- 0,7 ng/ml) in comparison with the control group (40,0 +/- 0,4 ng/ml). In children with impaired lipid absorption and diarrhoea the 25 OH D3 concentration was 33,6 +/- 2,4 ng/ml. After oral administration of vitamin D in small doses no differences were noted in the increase in vitamin D and 25 OH D3 concentrations in children with malabsorption syndrome or the control group. After administration of vitamin D in the dose 10 times higher no difference in the increase in vitamin D concentration was noted in children with malabsorption syndrome and the control group. However the increase in 25 OH D3 concentration in children with malabsorption syndrome was 49,8 +/- 1,2 ng/ml and 145,0 +/- 3,5 ng/ml in the control group. In the children with impaired lipid absorption and diarrhoea decreased vitamin D and 25 OH D3 concentrations were noted. This means that physiological doses of vitamin D in children with malabsorption syndrome are sufficient to supply vitamin D. Diarrhoea and impaired lipid absorption however, are indications for stimulation of skin synthesis of vitamin D.

Atrophy↗

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Evaluation of the liver blood flow in the children with portal hypertension.

The aim of the study was to evaluate the liver blood flow at different stages of hepatitis B as compared with prehepatic block. The examination was performed on 79 children aged 1-17 years who were divided in two groups. Group 1 consisted of 20 children with HBV chronic active hepatitis B: 10 children with liver efficiency (Gr. 1A) and 10 with liver cirrhosis (intrahepatic block) Gr. 1B. Group 2 comprised 59 children with prehepatic block. The liver blood flow was assessed with the help of a radioisotope liver scintiscan by the first flow technique using 99mTc-DTPA. The ratio of portal to total liver blood flow (HPI) and time of portal blood flow (T1/2) were estimated. In children from group 1A the HPI mean was 57% (N over 75%) and T1/2 was 7-8 sec (N4-7 sec) depending on age. In Group 1B the HPI mean was 25% and T1/2 was 9-13 sec. In most of the children with prehepatic block HPI was low (mean 22%) and was similar to that in children with cirrhosis due to HBV. The arterial blood flow increased while HPI showed a distinct decrease.

Adolescent↗

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[Evaluation of selected parameters in calcium and phosphate metabolism in acute liver failure following poisoning with Amanita phalloides].

Serum calcium, phosphate and 25-OHD8 levels as well as calcium and phosphate urine excretion were determined in 21 children between 5 and 7 days after poisoning with Amanita phalloides. Hypophosphatemia was seen in children with the symptoms of moderate intoxication whereas hypocalcemia in severely poisoned patients. Phosphates deficit should be corrected early in all patients poisoned with Amanita phalloides.

Adolescent↗

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["Munchausen syndrome by proxy" as an example of diagnostic error].

A case of the girl who underwent multiple hospitalizations is presented. Gastrointestinal disorders were seen in the infancy together with skin rash of allergic type, hypoglycaemia without any clear reason in the fourth year of age, and polyuria with hyponatremia and hypokalemia since the sixth year of age. Mother's lack of concern was unexplainable in view of the deteriorating child's health. Samples of the urine and faeces supplied by the mother have shown the laboratory findings suggesting that potassium chloride was added to the faeces and natrium hydrocarbonate--to the urine. Urine collected during polyuria contained large quantities of furosemide. Long-term follow-up, numerous examinations and performed tests have led to the diagnosis of the particular form of the ill-treated child syndrome, so-called "Munchausenn by proxy" syndrome.

Adult↗

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