Fabry disease is characterized by an X chromosome linked inheritance and disease-causing variations in the alpha-galactosidase gene. These gene variations lead to either galactosidase alpha enzyme instability, decreased enzymatic activity or lack of the enzyme, which subsequently cause glycosphingolipid accumulation. Due to glycosphingolipid
deposition a wide spectrum of clinical symptoms may arise, which often begin in childhood and after the third decade of life could lead to life-threatening conditions. Currently in Hungary the enzyme replacement therapy or the pharmacological chaperon therapy are available as disease-specific treatments, which can protect against the onset of
irreversible complications. The time-sensible correct diagnosis is critical in the initiation and choice of disease-specific therapy in order to avoid the development of irreversible complications. We present here in detail the description of clinical manifestations and symptoms, molecular diagnostics, diagnostic-criteria system and the currently depicted
genotype-phenotype correlations. The guideline was established by a Hungarian multi-disciplinary working group, consisting of physicians who are involved in health care and clinical research of Fabry patients. Previous clinical studies, published materials, and recently established international and national treatment guidelines were reviewed by
the group.

Obesity is one of the major risk factors for gastroesophageal reflux disease (GERD). In addition to the globally increasing prevalence of childhood obesity, the frequency of GERD is probably increasing in obese children. Beside the higher intragastric pressure and the frequent hiatal hernia the motility disorders of the esophagus also seem to contribute to the higher risk for GERD in obesity. Asymptomatic and therefore untreated GERD can lead to long-term complications such as Barrett’s esophagus, adenocarnicoma. Both obesity and asthma are associated with GERD, therefore GERD is suggested to be an aggravating factor in poorly controlled asthma symptoms. Regular follow-up for GERD symptoms in overweight/obese children is important because of the long-term complications of GERD. Weight loss is the first line therapy in case of GERD symptoms.

The primary and secondary forms of thrombocytosis are known. The primary form is infrequent in infancy and childhood, while the acquired form is encountered relatively more frequently. While the treatment of the primary form is very difficult, most of the secondary forms disappear with the improvement of the concomitant disease and the elimination of the trigger factor.

Duchenne muscular dystrophy is an X-linked, recessive disorder with fatal outcome. Its cause is the lack of a cytoskeletal protein, dystrophin – due to pathogenic variants of the DMD gene. DNA-based diagnosis is important in view of choosing specific treatment. Successful therapy is based on early diagnosis. Delay in motor ± language milestones, clumsy gait, fatigue, thickened calves, a special manoeuvre (Gowers’ sign) used for getting erect may draw the family doctor’s attention. If serum creatine-kinase level is markedly elevated, the patient should be referred to neuromuscular centre. Specific treatment and multidisciplinary care result in a significantly improved quality of life and extended life span.

Introduction: Intussusception is a life-threatening illness, the most common cause of intestinal obstruction in children.
Beside the typical age of presentation, it is very rare among newborns, especially among preterm infants. In case of a preterm baby with intestinal obstruction, usually necrotising enterocolitis stands in the background. But, if the clinical course is atypical, other etiological factors, like intussusception should also be considered.
Case report: We present a case of a preterm baby, who was born on the 25th weeks of gestation. At the end of the first week he showed septic symptoms with bowel distension. According to the clinical sings and X-ray necrotising enterocolitis was suspicious. With conservative treatment, the baby was deteriorating, so after 5 days laparotomy was
performed. During surgery an intussusception was found on the small bowels.
Conclusion: It is often difficult to diagnose intussusception among preterm infants, which usually leads major delay in the proper surgical treatment.

Childhood abdominal pain is one of the most common diseases that we encounter in our outpatient clinic. Differential diagnosis is often not easy, even with proper imaging tests.
In this article, I would like to describe the case of a 12-year-old girl who has been on our hospital for 2 days of abdominal complaints and nausea. An ultrasound scan showed an extremely large fluid-filled stomach. An MRI scan described a depression in the lower section of the duodenum. We decided to have surgery, where we did not find any
abnormalities, the child’s complaints persisted, but we could not make a diagnosis either during imaging tests or during surgery…

Deliberate suicide attempt is a severe, life-threating form of hyperinsulinaemic hypoglycaemia. This case presentation describes our first experience with the management and aims to increase the awareness of this condition. A 14 and a half year old boy under psychiatric care was diagnosed with type 1 diabetes at the age of 14 and was on a basal-bolus insulin regimen wearing a Freestyle Libre glucose sensor. On the day of admission he injected himself 300 units (over 30 times of his highest bolus dose) of rapid acting insulin (Insuman Rapid) with suicidal intensions and texted his mother.
One hour later (blood glucose: 2.7 mmol/l) he was given 100 ml of 20% intravenous dextrose and Isolyte infusion in the ambulance. A fully conscious and lucid patient was admitted with a blood glucoe of 3.7 mmol/l, serum insulin of > 300 mU/L(result returned two days later), serum potassium of 3.28 mmol/l. He was treated with a continuous infusion of 10 % glucose and potassium and repeated doses of 1 mg intramuscular glucagon, as well as cooling the injection site with an ice pack. Oral intake was also encouraged. He remained normoglycemic and the glucose infusion was discontinued after 15 hours.
The possibility of an overdose is to be considered in every case of „unexplainable” hypoglycaemia (even if the the patient denies the attempt), which – beside hypoglycaemia – can lead to other complications, as well (electrolyte disturbances and liver damage).
The treatment (intravenous glucose bolus followed by continuous glucose infusion, intramuscular glucagon, cooling of the insulin injection site) is urgent and life-saving. Its protocol should be included in the emergency management guidelines of every Paediatric Unit. Surgical excision of the insulin depot may also be needed.
The fear of hypoglycaemia, the lack of experience with management due to scarcity of the event can lead to overtreatment as it happened in our case (inappropriately high dose of intravenous glucose bolus in the ambulance and repeated doses of glucagon). The hypoglycaemia can be prolonged, lasting for several days, especially if an overdose of
a long-actig insulin analogue was administered.

1-6% of diabetes mellitus in children and adolescents belong to the autosomal dominant monogenic type.
The 12-year-old girl with normal weight appeared with polydipsia, polyuria and higher random fingertip blood glucose levels lasting two weeks in our outpatient diabetes clinic. Initially she was treated as type 1 diabetes. We have suggested the possibility of MODY (maturity onset diabetes of the young) due to normal body weight, lack of obesity,
moderately higher blood glucose levels and positive family history. It was confirmed by genetics. The subcutaneous insulin treatment was stopped and oral sulphonylurea treatment was initiated.Classification of diabetes mellitus in children and adolescents also has a therapeutic consequences, it needs personalized treatment, including oral
medication therapy.

Cast or plastic bronchitis is an unusual disorder that is rarely encountered in children. It is characterized by the formation of large, bronchial casts with rubber-like consistency in the tracheobronchial tree and causes partial or complete airway obstruction. Plastic bronchitis - a rare complication of Fontan palliation - carries a high morbidity and mortality risk. Few medications are proved to be effective for preventing cast formation, but heart transplant can be a definitive solution for these patients.We report the first Hungarian child suffering from cast bronchitis who underwent a successful heart transplant.