ABSTRACT
Bilateral diffuse uveal melanocytic proliferation is a rare paraneoplastic disorder where bilateral blindness is caused by uveal thickening, serous retinal detachment, and rapid cataract formation. Several different malignancies have been associated with bilateral diffuse uveal melanocytic proliferation, but ovarian carcinoma in women and lung and pancreatic carcinoma in men are the most common. The underlying mechanism is thought to be related to a an endogenous factor wich regulates the proliferation of uveal melanocytes. We present the case of a 75-year-old man with bilateral diffuse uveal melanocytic proliferation secondary to pulmonary adenocarcinoma.
Subject(s)
Pancreatic Neoplasms , Paraneoplastic Syndromes, Ocular , Paraneoplastic Syndromes , Uveal Diseases , Aged , Cell Proliferation , Female , Humans , Male , Melanocytes , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/etiology , Paraneoplastic Syndromes, Ocular/diagnosis , Uveal Diseases/diagnosisSubject(s)
Acanthamoeba Keratitis/etiology , Acanthamoeba Keratitis/epidemiology , Adolescent , Adult , Age Factors , Case-Control Studies , Contact Lenses/adverse effects , Eye Infections, Bacterial/epidemiology , Eye Infections, Bacterial/microbiology , Female , Humans , Keratitis/epidemiology , Keratitis/microbiology , Male , Middle Aged , Risk Factors , Sex Factors , Tertiary Care Centers , Tunisia/epidemiology , Young AdultABSTRACT
The Maroteaux-Lamy disease, or mucopolysaccharidosis type VI is an inherited metabolic disorder severe and rare. It is caused by a deficiency of the enzyme arylsulfatase B. It is characterized by a heterogeneous clinical, radiological and genetic. We report the case of a Maroteaux-Lamy syndrome of in a child aged 7 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, a failure to thrive not harmonious, hepatomegaly and normal intelligence. Radiological exams have objectified dysostosis multiplex. Biochemical analysis of urine showed the abnormal presence of dermatan sulfate. The determination of leukocyte enzyme activity confirmed the diagnosis by showing arylsulfatase B deficiency. Hence the diagnosis of syndrome Maroteaux-Lamy in its mild form (type B) was selected.
Subject(s)
Mucopolysaccharidosis VI/diagnosis , Child , Consanguinity , Developmental Disabilities/blood , Developmental Disabilities/diagnosis , Growth Disorders/blood , Growth Disorders/diagnosis , Humans , Male , Mucopolysaccharidosis VI/blood , Mucopolysaccharidosis VI/metabolism , N-Acetylgalactosamine-4-Sulfatase/analysis , N-Acetylgalactosamine-4-Sulfatase/blood , N-Acetylgalactosamine-4-Sulfatase/metabolismABSTRACT
The primary distal renal tubular acidosis is characterized biochemically by the inability of the kidney to produce appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading (e.g. ammonium chloride). It is secondary to defective excretion of H(+) by the cells of the collecting duct. We report the observation of the child MC, 4-year-old, for whom the association of polyuria-polydipsia syndrome, a failure to thrive, nephrolithiasis, hypercalciuria, and especially a high urine pH in the presence of metabolic acidosis did evoke diagnosis of distal renal tubular acidosis. An urine acidification test with ammonium chloride was performed, the urinary pH was always higher than 5.5, thus confirming the diagnosis.
