Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose. This leads to severe liver and kidney insufficiency, central nervous system damage and long-term complications in newborns. We present two clinical cases of classical galactosemia diagnosed at the Lithuanian University of Health Sciences (LUHS) Kaunas Clinics hospital and we compare these cases in terms of clinical symptoms and genetic variation in the GALT gene. The main clinical symptoms were jaundice and hepatomegaly, significant weight loss, and lethargy. The clinical presentation of the disease in Patient 1 was more severe than that in Patient 2 due to liver failure and E. coli-induced sepsis. A novel, likely pathogenic GALT variant NM_000155.4:c.305T>C (p.Leu102Pro) was identified and we believe it could be responsible for a more severe course of the disease, although further study is needed to confirm this. It is very important to suspect and diagnose galactosemia as early in its course as possible, and introduce lactose-free formula into the patient’s diet. Wide-scale newborn screening and genetic testing are particularly crucial for the early detection of the disease.

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In the last decade, scientific studies in the field of children’s gastroenterology performed in Lithuania explored different problems: pathology of Helicobacter pylori infection and food allergy. Our studies Helirevealed that children with atopic dermatitis had gastrointestinal complaints (abdominal pain, diarrhea, distension and unstable stool, which appeared with the exacerbation of skin rash) more often as compared to nonallergic children of the control group. Abdominal pain in children with atopic dermatitis with local rash was more frequent and lasted longer than in control group children, whereas children with extended rash had stools more frequently. Gastrointestinal disorders in children with atopic dermatitis statistically significantly did not depend on the extent of skin rash and severity of atopic dermatitis. In our scientific research on the importance of H. pylori infection on children’s gastrointestinal system, children with chronic dyspepsia were examined. Endoscopy, rapid urease test, biopsies from antrum and corpus of stomach and their histological examination as well as serologic tests were done. According to the results obtained, we recommend to examine children with chronic dyspepsia in a complex way: not only endoscopic examination, but H. pylori diagnostic tests should be performed as well. Serologic test is not suitable for screening H. pylori infection in children. Considering this, we recommend to use no fewer than two different methods to diagnose this infection. The highest frequency of H. pylori infection was found in children with duodenal ulcer; histological changes in their gastric pylorus and corpus mucosa were greatest. More than half of children with nonulcer dyspepsia were infected with H. pylori. After eradication of H. pylori infection, the prevalence of dyspepsia in children with duodenal ulcer decreased.

Berdono sindromas arba didelės šlapimo pūslės – mažos gaubtinės žarnos – sumažėjusios žarnų peristaltikos sindromas (angl. megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS)) yra labai retas, įgimtas ir gyvybei pavojingas sindromas, kurio tikslus paplitimas nėra žinomas. Šiame straipsnyje pristatomas Berdono sindromo klinikinis atvejis. Šio sindromo metu pasireiškia pasikartojantys dinaminio žarnyno nepraeinamumo simptomai bei šlapimo pūslės tonuso sutrikimai, sukeliantys šlapimo susilaikymą, nesant jokios distalinės obstrukcijos, kliudančios nutekėti šlapimui. Mūsų aprašomam pacientui šis sindromas buvo patvirtintas molekuliniais genetiniais metodais Japonijos Keio universitete, nustačius de novo atsiradusį ACTG2 geno c.769C>T, pArg257Cys heterozigotinį patogeninį variantą. Berdono sindromas gydomas tik simptomiškai – taikoma parenterinė mityba bei didelės šlapimo pūslės kateterizavimas.

Mažo vaiko mityba turi būti subalansuota ir atitikti jo amžių. Svarbiausia – įvairus ir tinkamai atrinktas maistas, su kuriuo organizmas gautų reikiamą pagrindinių maisto medžiagų (baltymų, riebalų, angliavandenių) ir vitaminų bei mineralinių medžiagų kiekį. Tinkama mažų vaikų mityba lemia optimalų jų protinių ir fizinių gabumų vystymąsi.