Berardinelli-Seip congenital generalised lipodystrophy (BSCGL) is an extremely rare autosomal recessive disorder characterised by congenital absence of functional adipocytes causing lipoatrophy, dyslipidemia and fat maldistribution [1]. Fat deposited in liver, heart and muscle result in stetosis-induced cirrhosis, cardiac failure, insulin resistance and diabetes mellitus. We report two addition...

A case of pulmonary alveolar microlithiasis occurring in an inbred family is presented. A genome-wide analysis of the patient's genomic DNA using a high-density single nucleotide polymorphism (SNP) array revealed a small intragenetic mutation at SLC34A2. The results suggest that the high-density SNP array has the power to identify a recessive disease gene(s) even in the analysis of only a singl...

Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown etiology characterized by intra-alveolar calcium deposits. More than 500 cases were reported in the literature. The disorder affects people at every age beginning from the early childhood. It occurs probably as a result of autosomal recessive transmission. Familial occurrence is often found with family history of the disease b...

Pulmonary alveolar microlithiasis (PAM) is an uncommon genetic disorder associated with alveolar cell injury. This injury is caused in most cases by inactivating mutations in SLC34A2 gene, which is responsible for the production of a sodium-dependent phosphate co-transporter. The dysfunction or deficiency of this transporter leads to the aggregation of local phosphate intra-alveolarly and forma...

We describe the rare combination of testicular microlithiasis, unilateral intra/extratesticular varicocele, and tubular ectasia of the rete testis in a 17-year-old boy who presented with testicular pain following a trauma. He had a prior history of undescended testis and orchiopexy in childhood. His workup included a normal abdominal ultrasound and a sperm analysis demonstrating a low sperm cou...

BACKGROUND Elastography of the testis can be used as a part of multiparametric examination of the scrotum. PURPOSE To determine the testicular stiffness using acoustic radiation force impulse imaging (ARFI) technique in men with testicular microlithiasis (TML). MATERIAL AND METHODS In 2013, 12 patients with diagnosed testicular microlithiasis in 2008 (mean age, 51 years; age range, 25-76 ye...

Pulmonary alveolar microlithiasis (PAM) is a rare lung disease, characterized by progressive formation of intra-alveolar calculi in response to an unknown stimulus. We report an unusual presentation of PAM in a 10 year old girl with clinically significant interstitial lung disease and histological evidence of both PAM and lymphocytic interstitial pneumonitis. A rapid improvement of pulmonary fu...