Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Type of mutation was related to the severity of mental retardation and the presence of complex movement disorders. Cerebrospinal fluid : blood glucose ratio was related to type of mutation and phenotype. In conclusion, a substantial number of the patients with glucose transporter-1 deficiency syndrome do not have epilepsy. Our study demonstrates that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.

Intra-abdominal hypertension (IAH) contributes to organ dysfunction and leads to the development of the abdominal compartment syndrome (ACS). IAH and ACS are relatively frequent fi ndings in patiens with severe acute pancreatitis (SAP) and are associated with deterioration in organ functions. The most affected are cardiovascular, respiratory and renal functions. The incidence of IAH in patients with SAP is approximately 60-80%. There is an accumulating evidence in human and animal studies that changes of perfusion, particularly to the microvasculature, are crucial events in the progression of acute pancreatitis (AP). The perfusion of the small and large intestine is impaired due to reduced arterial pressure, increased vascular resistence and diminished portal blood fl ow. Bacterial translocation has been described in patients with ACS, and this may apply to patients with SAP. Approximately 30-40% of SAP patients develop ACS because of pancreatic (retroperitoneal) infl ammation, peripancreatic tissue edema, formation of fl uid collections or abdominal distension. Surgical debridement was the preferred treatment to control necrotizing pancreatitis in the past. However, the management of necrotizing pancreatitis has changed over the last decade. The main objective of this article is to describe the association between IAH and AP and to emphasize this situation in clinical praxis as well (Fig. 1

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava. Neurofibromatosis, genetic disorder, variable clinical manifestation, diagnostic criteria, genetic counselling, malignancy, follow-up, broad cooperation with specialists neurofibromatóza typu 1, variabilné klinické prejavy, diagnostické kritériá, genetické poradenstvo, tumor, klinické sledovanie, multidisciplinárny prístup Keywords Kľúčové slová ACTA FACULTATIS PHARMACEUTICAE UNIVERSITATIS COMENIANAE Abstract / 2 Slovenská akadémia vied, Inštitút molekulárnej fyziológie a genetiky, / 6 Detská fakultná nemocnica Bratislava, Klinika detskej hematológie a onkológie, Bratislava, Slovenská republika 7 Orphanet Slovakia / 7 Orphanet Slovenská republikaNeurofibromatóza typ 1 (NF1) je jedným z najčastejších autozómovo dominantných ochorení, prevažne s miernymi kožnými prejavmi. U skupiny pacientov s NF1 však pozorujeme závažné komplikácie, ako je progresívny glióm zrakového nervu, plexiformný neurofibróm, alebo malígne nádory obalov periférnych nervov. Vzhľadom na potenciálne progresívny a asymptomatický priebeh ochorenia, vyžadujú pacienti s NF1 pravidelné multidisciplinárne sledovanie v spolupráci s rôznymi špecialistami. V tomto článku sme zhrnuli naše dlhoročné skúsenosti z multidisciplinárneho sledovania pacientov s NF1 v centre pre neurofibromatózu typ 1 v detskej fakultnej nemocnici s poliklinikou v Bratislave. Slovak abstractActa Fac. Pharm. Univ. Comen. LXI, 2014 (1)

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