1/4. Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.Lipatrophic diabetes, also referred to as familial partial lipodystrophy, is a rare disease that is metabolically characterized by hypertriglyceridemia and insulin resistance. Affected patients typically present with regional loss of body fat and muscular hypertrophic appearance. Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome. Mutations within the LMNA gene on chromosome 1q21.2 were recently reported to result in the phenotype of familial partial lipodystrophy. The genetic trait is autosomal dominant. We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Trp) missense mutation within LMNA. Here we present the lipoprotein characteristics in this family in detail. Clinically, the loss of sc fat and muscular hypertrophy especially of the lower extremities started as early as in childhood. Acanthosis and severe hypertriglyceridemia developed later in life, followed by diabetes. The characterization of the lipoprotein subfractions revealed that affected children present with hyperlipidemia. The presence and severity of hyperlipidemia seem to be influenced by age, apolipoprotein E genotype, and the coexistence of diabetes mellitus. In conclusion, dyslipemia is an early and prominent feature in the presented lipodystrophic family carrying the R482W mutation within LMNA.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/4. Permanent neonatal diabetes mellitus manifesting as diabetic ketoacidosis.Neonatal diabetes mellitus (NDM) is a very rare disease defined as hyperglycemia that occurs during the first month of life, requires insulin treatment, and lasts more than 2 weeks. There are 2 types of NDM: permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). We report a case of PNDM in a 3-day-old female infant. This full-term neonate was born small for gestational age. Respiratory distress, poor activity, hypothermia, poor feeding, dehydration, and ketoacidosis were noted at the age of 3 days. After insulin therapy and fluid replacement, her condition became stable. glucagon test done at the age of 26 days showed serum c-peptide level to be low for her age. During the first year of life she had catch-up growth, but insulin therapy was still required. serum c-peptide level was undetectable at the age of 15 months. The course of this case indicates the importance of a high index of suspicion for patients with PNDM in order to correct metabolic derangement as early as possible and facilitate normal growth and development under insulin therapy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/4. Chronic hereditary pancreatitis.Chronic hereditary pancreatitis is a rare disease accounting for 0.9% of chronic pancreatitis cases. Onset is at an earlier age than chronic alcoholic pancreatitis, often with recurrent painful episodes in childhood. We report the occurrence of hereditary pancreatitis in 3 members of a family over 3 generations.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/4. mucormycosis: experience with 10 patients.Rhinocerebral mucormycosis is a fulminating, devastating fungal disease, usually associated with debilitating diseases such as diabetes mellitus, leukaemia and immunosuppressive conditions. Ten patients with this rare disease have been treated over the past 14 years at the Beilinson Medical Centre. Nine patients had an underlying debilitating disease and one patient had latent diabetes mellitus which was diagnosed only after presentation of mucormycosis. Only two of the 10 patients survived. Early aggressive surgical debridement, together with amphotericin b and correction of underlying metabolic acidosis were found to be important factors associated with survival.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |