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.

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.

Hyperargininemia: a family with a novel mutation in an unexpected site.

Hyperargininemia is a rare autosomal recessive disorder of the last step of the urea cycle characterized by a deficiency in liver arginase1. Clinically, it differs from other urea cycle defects by a progressive paraparesis of the lower limbs (spasticity and contractures) with hyperreflexia, neurodevelopmental delay and regression in early childhood. Growth is affected as well.

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.