Wilson's disease presenting as depressive disorder.
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Biomedical subjects
Publications and source records attributed to A Riyaz.
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A rare occurrence of primary small intestinal lymphangiectasia in an 8-year-old girl with incontinentia pigmenti achromians is reported. In addition, she had right sided hemihypertrophy. Though intestinal lymphangiectasia is known to have a few syndromic associations, its co-existence in a child with incontinentia pigmenti achromians has not yet been reported in the literature. Hemihypertrophy is also extremely rare in the latter and only very few instances of an association between the two have been documented previously.
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Nalidixic acid, the quinolone frequently used in the treatment of acute dysentery, is now emerging as an important cause of pseudotumour cerebri in infants and young children. A study of 20 such cases showed that all the patients had received a higher than recommended dose of nalidixic acid and that 85% of them were given the drug unnecessarily (i.e., for acute watery diarrhoea). A high concentration of the drug in the commercial preparations as well as the lack of awareness about this among doctors, especially the general practitioners, is the possible contributory factor leading to this situation. A simple measure of bringing down the concentration of nalidixic acid in the available preparations and sticking to oral rehydration solution alone in the treatment of acute watery diarrhoea, can bring down the incidence of this condition.
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A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of Goltz syndrome. The unusual features noted were absence of the left first rib and aortic regurgitation.
Unilateral defect of pectoral muscle and ipsilateral syndactyly constitute Poland syndrome. Absence or hypoplasia of the breast and nipple, axillary hair loss and dermatoglyphic abnormalities have also been reported in this syndrome. The primary defect could be in the development of the proximal subclavian artery with early deficit of blood flow to the distal limb and the pectoral region, resulting in partial loss of tissue in those regions. However, the association of congenital hemangioma with Poland sequence has not been observed so far. Such an association is being reported here in a 1-year-old infant, second-born of nonconsanguineous parents, who also had polydactyly instead of the documented syndactyly.
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