ABSTRACT
We report a 23-year-old thalassodrepanocytic man who contracted leishmaniasis. The diagnostic difficulties related to some overlapping features between the two conditions are discussed. To the best of our knowledge, this is the first reported occurrence of leishmaniasis in a thalassodrepanocytic patient.
Subject(s)
Anemia, Sickle Cell/complications , Leishmaniasis, Visceral , Splenectomy , Adult , Amphotericin B/administration & dosage , Amphotericin B/therapeutic use , Antiprotozoal Agents/administration & dosage , Antiprotozoal Agents/therapeutic use , Diagnosis, Differential , Follow-Up Studies , Humans , Italy/epidemiology , Leishmaniasis, Visceral/diagnosis , Leishmaniasis, Visceral/drug therapy , Leishmaniasis, Visceral/epidemiology , Male , Time Factors , Treatment OutcomeABSTRACT
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletions of the survival motor neuron (SMN) gene localised on chromosome 5q13. Pathological studies show decreased numbers of motorneurons in spinal cord. SMA was initially sub-classified clinically into three types base on age at onset and clinical course. SMA type 1, Werdnig-Hoffmann disease, has an onset within the first 6 months and death within the first two years. In contrast, SMA type II has an onset after six months of life and the children achieve the ability to sit unaided. Children with SMA type III (Kugelberg-Welander) usually have normal milestones in the first year and achieve the ability to walk but then show evidence of mild weakness. The prognosis is good and the clinical course is not (or very slowly) progressive. Recently, Dubowitz described a new form of SMA called type 0 with a neonatal onset, facial weakness, progressive and fatal clinical course. These infants show generalised hypotonia, the lower limbs are more affected than the upper with marked weakness of all axial muscles. We report a case of SMA, uncommon for the early onset and the respiratory difficulties. The diagnosis has been done by genetic analyses showing a SMN mutation.
Subject(s)
Muscular Atrophy, Spinal , Age Factors , Apgar Score , Humans , Infant , Infant, Newborn , Male , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/genetics , Muscular Atrophy, Spinal/mortality , MutationABSTRACT
The aim of this report was to evaluate the incidence of Type 1 diabetes mellitus (T1DM) in the district of Catania (eastern Sicily) in children under 15 yr of age over a ten-yr period (01/01/1989 - 31/12/1998) in relation to age, sex, monthly-seasonal variability, calendar yr and spatial clustering. The estimated completeness of our register was 99.2%. The overall incidence rate was 12.38 per 100,000 during the period of the study. Twenty-four percent of cases were 0-4 yr at diagnosis, 42% were 5-9 yr and 34% were 10-14 yr. More males (no. 148) than females (no. 125) were newly diagnosed with a male/female ratio similar to the base population ratio in the range 0-14 yr and within age groups. The study revealed a non-random spatial distribution of T1DM incidence in children not accounted for by known demographic factors. A significant seasonal pattern and temporal trend of incidence were also detected.
