Delayed diagnosis of leprosy in a Kuwaiti child

Leprosy is a chronic infectious disease affecting primarily the skin, peripheral nerves, and some visceral tissues. The skin lesions take the form of macules, papules, plaques, nodules and diffuse infiltration. If hypo-pigmented macules are the only manifestation of leprosy in patients living in non-endemic areas, they may be misdiagnosed as other more common skin diseases. We report the case of an 8-year-old Kuwaiti boy who presented with hypo-pigmented macules for the last four years. He was given various diagnoses until neurologic manifestations set in. That was when the diagnosis of leprosy was suspected and confirmed by biopsy. Awareness of leprosy should be raised in non-endemic countries like Kuwait which have a sizeable expatriate work force coming from endemic areas

New perspectives in Klinefelter syndrome

Histopathology of the testes in Klinefelter syndrome [KS] [47, XXY- no mosaicism] is characterized by complete fibrosis and hyalinization of seminiferous tubules, resulting in azoospermia and failure of fatherhood. This occurs through a gradual process that begins in the fetus, progresses through infancy and accelerates dramatically at the time of puberty. But recently with amniocentesis and study of aborted fetuses in different stages, seminiferous tubules showed germ cells. Therefore, new salvages have been undertaken recently for gonosomes in these patients. One method involves cryopreservation of sperms in school-age boys at the age of 11 - 15 years having testicular volumes between 2 - 4 ml. Another salvage process attempts to pick patients with lowgrade mosaicism who may have normal cell line and isolated foci of spermatogenesis in their seminiferous tubules. This is done by analyzing 150 well-spread G-banded metaphases instead of the usual 20 or less metaphase spreads and increasing the number of cells analyzed either by karyotyping or by FISH in interphase nuclei. This is a good marker for intracytoplasmic sperm injection. Another complication of KS is precocious osteoporosis which was believed to be due only to early onset of testosterone deficiency. However, reduced bone mass might be present also in KS men with normal testosterone levels and even with testosterone replacement therapy. Possible new determinants for osteoporosis in KS might be related to the androgen receptor [AR] function and insulin-like factor 3 [INSL3] levels

Thyroid function in Kuwaiti subjects with Down's syndrome

To investigate the thyroid function of individuals with Down's syndrome [DS]. Thyroid function and antithyroid antibodies were measured in 58 Kuwaitis with DS who resided at a residential facility or attended rehabilitation centers. Twenty-six subjects [45%] were euthyroid and 32 [55%] had thyroid dysfunction. One patient had previously been diagnosed with thyroid failure whereas the other 31 patients had newly discovered disease: 9 patients had primary hypothyroidism [T4 9.95 +/- 1.1 pmol/l and TSH 15.15 +/- 11.93 mU/l], 19 subclinical hypothyroidism [TSH 6.47 +/- 2.57 mU/l], 1 secondary hypothyroidism, 1 hyperthyroidism, and the remaining 1 subclinical hyperthyroidism. Antithyroid antibodies were found in 52% of the total subjects and in 59% of those with thyroid dysfunction. Conclusions: Thyroid dysfunction is common in Kuwaiti subjects with DS and is presumably the consequence of autoimmune thyroid disease. Periodic thyroid function testing is recommended in individuals with DS, which is best done through a national program