McArdle disease: a novel mutation in Jewish families from the Caucasus region.

McArdle disease is caused by a myophosphorylase deficiency consequent to defects in the PYGM gene. A minority of the over-133 known mutations are associated with ethnicity, occurring mainly in patients from western Europe, the United States, and Japan. We identified a novel mutation, c.632delG, in three unrelated families of Jewish descent originating from the Caucasus region. This possibly ethnicity-associated mutation can significantly facilitate the diagnosis in Jews of the Caucasus and contribute to genetic consultations.

Long-term Follow-up of Observation-Only Management of Nontuberculous Mycobacterial Lymphadenitis.

A total of 21 children with clinically and microbiologically proven craniofacial nontuberculous mycobacterial lymphadenitis managed by observation only at a tertiary medical center in 1993-2005 were evaluated for scar parameters at least 2 years after diagnosis. Parents completed a satisfaction questionnaire. Median follow-up time from presentation was 6.8 years (range = 2.3-16.9 years). In all, 18 patients showed scar formation, for a total of 26 scars; 21 scars (81%) had a maximal length of ≤3 cm. Vascularity was normal in 20 scars (77%), and pigmentation was normal in 18 (69%); 21 scars (81%) had a normal to only mildly uneven surface. Although 8 parents (44%) reported that the presence of the scar disturbed them, all responders but one (94%) expressed overall contentment of observation only as a conceivable management alternative. In conclusion, an observation-only approach to craniofacial nontuberculous mycobacterial lymphadenitis is associated with an acceptable outcome and may be an alternative to patients who wish to avoid surgery.

Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.

OBJECTIVE: To describe the phenotypic features of an ethnically homogenous group of patients with Fanconi-Bickel syndrome harboring the p.R310X mutation. METHODS: The study group consisted of eight patients from a single Bedouin family with clinically and molecularly diagnosed Fanconi-Bickel syndrome who had been followed at the same tertiary medical center for 8 years or more. All were homozygous for the p.R310X mutation. The medical files were reviewed for presenting signs and symptoms, laboratory and imaging findings, treatment regimens, and disease severity over time. RESULTS: Seven patients were diagnosed at our center before age 1 year, and one transferred from another center at age 16 years. Most patients presented with failure to thrive and/or hepatomegaly. All had short stature and doll-like facies. Most had biochemical abnormalities. Evaluation of the long-term findings revealed a wide spectrum of disease severity according to the following parameters: growth patterns, maximal electrolyte replacement therapy, skeletal and renal complications, frequency of follow-up visits, and hospitalizations for disease exacerbations. There was no apparent association of the clinical picture at presentation and later disease severity. CONCLUSION: Fanconi-Bickel syndrome has a broad phenotypic variability in patients harboring the same homozygous p.R301X mutation. This finding might be explained by genetic elements such as modifier genes and epigenetic factors, as well as the effects of still-undetermined environmental and nutritional factors.