Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.

[Family planning is an exceptionally important question in multiple sclerosis, as women of childbearing age are the ones most often affected. Although it is proven that pregnancy does not worsen the long-term prognosis of relapsing-remitting multiple sclerosis, many patients are still doubtful about having children. This question is further complicated by the fact that patients – and often even doctors – are not sufficiently informed about how the ever-increasing number of available disease-modifying treatments affect pregnancies. Breastfeeding is an even less clear topic. Patients usually look to their neurologists first for answers concerning these matters. It falls to the neurologist to rationally evaluate the risks and benefits of contraception, pregnancy, assisted reproduction, childbirth, breastfeeding and disease modifying treatments, to inform patients about these, and then together come to a decision about the best possible therapeutic approach, taking the patients’ individual family plans into consideration. Here we present a review of relevant literature adhering to international guidelines on the topics of conception, pregnancy and breastfeeding, with a special focus on the applicability of approved disease modifying treatments during pregnancy and breastfeeding. The goal of this article is to provide clinicians involved in the care of MS patients with up-to-date information that they can utilize in their day-to-day clinical practice. ]

[Background and purpose - Data on the disease burden of Duchenne Muscular Dystrophy are scarce in Hungary. The aim of this study was to assess patients’ and their caregivers’ health related quality of life and healthcare utilisations. Methods - A cross sectional survey was performed as part of the European BURQOL-RD project. The EQ-5D-5L and Barthel Index questionnaires were applied, health care utilisations and patients’ informal carers were surveyed. Results - One symptomatic female carer, 50 children (boys 94%) and six adult patients (five males) participated in the study, the latter two subgroups were included in the analysis. The average age was 9.7 (SD=4.6) and 24.3 (SD=9.8) years, respectively. Median age at time of diagnosis was three years. The average EQ-5D score among children and adults was 0.198 (SD=0.417) and 0.244 (SD=0.322), respectively, the Barthel Index was 57.6 (SD=29.9) and 53.0 (SD=36.5). Score of satisfaction with healthcare (10-point Likert-scale) was mean 5.3 (SD=2.1) and 5.3 (SD=2.9). 15 children were hospitalised in the past 12 months for mean 12.9 (SD=24.5) days. Two patients received help from professional carer. 25 children (mean age 11.1, SD=4.4 years) were helped/supervisied by principal informal carer (parent) for mean 90.1 (SD=44.4) hours/week and further family members helped in 21 cases. Correlation between EQ-5D and Barthel Index was strong and significant (0.731; p<0.01) as well as with informal care time (-0.770; p<0.01), but correlation with satisfaction with health care was not significant (EQ-5D: 0.241; Barthel Index: 0.219; informal care: -0.142). Conclusion - Duchenne muscular dystrophy leads to a significant deterioration in the quality of life of patients. Parents play outstanding role in the care of affected children. This study is the first in the Central and Eastern European region that provides quality of life data in this rare disease for further health economic studies.]

[In childhood and adolescence, family therapy is a crucial therapeutic method in the treatment of anorexia nervosa. Among the family stress factors there are the tensions often too obvious between the parental and grandparental generations. Three case reports are presented, where the transgenerational tensions played an important role in the family of a young patient, suffering from anorexia nervosa. During the family therapy, the treat­ment of interrelated family stress factors and focusing on transgenerational relations proved to be crucial in the successful outcomes. While treating anorexia nervosa by family therapy there are not only important the recognition and treatment of tensions within the nuclear family, but also those of stressed relations emerging from grandparental generation through multigenerational transfer mechanisms. This treatment may be successful either with the grandparent’s inclusion, or exclusion. ]

[INTRODUCTION - Complementary feed-ing is the transitional period from exclusive breastfeeding to family foods, while breastfeeding is continued. It should be started, when breastmilk itself no longer meets the infant’s nutritional requirements, ideally at the age of around 6 months. SUBJECTS AND METHODS - In the Healthy Offspring project self reported questionnaires were received from 1133 parents of 0-3 year old children. Comple­mentary feeding practices and issues of weaning were analyzed. RESULTS - In our sample complementary feeding was started at the age of 5.5±1.8 months. 6% of infants younger than 4 months and about two third of infants at the age between 4 and 6 months were started on complementary feeding. 32% of the 7-12 month old infants were continued on breastfeeding. The proportion of breastfed infants and young children in the 12-24 and 25-36 month age group was 24% and 5.5% respectively. The daily feeding frequency of breastfed infants was 6.7±1.6. The infants and young children, who were breastfed along with complementary feeding were feeding 5.6±1.5 times/day. After completed weaning the range of feeding frequency was limited to 4.9±0.9 occasions/day. 60.4% of mothers regarded their feeding style on demand, while 39.6% on set schedule. 16% of mothers reported that their child had feeding difficulties. CONCLUSIONS - Complementary feeding indicators should be part of infant feeding data collection, such as time of introduction of complementary food, feeding frequency, food consistency, energy density of food and safe preparation. Responsive feeding is part of responsive parenting and should be promoted, along with continuing breastfeeding at least till one year of age, and for as long as mother and infant wish to continue. ]