To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...

Polyglandular autoimmune syndrome type I is a rare disorder characterized by mucocutaneous candidiasis (MC), hypoparathyroidism (HP) and adrenal insufficiency , requiring regular follow up as the components of the syndrome appear at different age groups. We report a six and half year boy having this syndrome and presenting with MC, HP and ectodermal dystrophy.

age related cytochemical changes of thymic endocrine cells were studied in 78 day old chicks at five day interval to age of day 60 employing a panel of cytochemical stains. methenamine silver revealed cell morphology including cell processes distinctly while diamine silver revealed a stronger argentaffinity in these cells. the cells had greater affinity for diamine silver compared to methenamin...

Type-I quantum defects are considered in the context of the glN spin chain. The type-I defects are associated to the generalized harmonic oscillator algebra, and the chosen defect matrix is the one of the vector non-linear Schrödinger (NLS) model. The transmission matrices relevant to this particular type of defects are computed via the Bethe ansatz methodology.

An adult woman 43 years old, with Multiple Endocrine Neoplasia type 2A (MEN2A). Clinical diagnosis of MEN2A was made based on the chief complaints of abdominal pain and a lump in the front left side area of neck accompanied with weight loss, from laboratory examination revealed an increased level of plasma levels of calcitonin levels with the result of 6359 pg/ml and 24 hours metanephrine urine...

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical featu...

Sialidosis is a lysosomal storage disease caused by deficit of neuraminidase. It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. Symptoms began at age 26 with reduced visual acuity, bilateral cherry-red spots and later myoclonus. A brother, now deceased, had ...

introduction: it is essential for clinicians to have knowledge about root canal configuration, although its morphology varies largely in different ethnicities and even in different individuals within the same ethnic group. the current study reviewed the root canal configuration of root canals in mandibular first and second premolars among iranian population based on independent epidemiological ...

  Objective(s): Recent investigations show that both proliferation and secretion of macromolecules by cells can be regulated by low level laser therapy (LLLT). The aim of this study was to determine whether LLLT could induce a bio-stimulatory effects on human gingival fibroblasts (HGF3-PI 53). Therefore, the effect of laser irradiation on human gingival cell proliferation and collage...