1/346. Phenotypic variability in the chromosome 9 ring.The syndrome associated to the 9 ring is not commonly observed. The first remark was by Kistenmacher (1970) who examined a male. Later observation of other cases has allowed the syndrome to be described, so that it can be said to be characterized by constant signs, such as microcephaly, psychomotor retardation of varying entity and facial dysmorphism corresponding to that observed in 9 p monosomy. The variability of the phenotype has to be compared with the entity of the telomeric deletion, since the clinical outlook, especially the entity of retardation, could be less serious in case of small deletions.- - - - - - - - - - ranking = 1keywords = aid (Clic here for more details about this article) |
2/346. birt-hogg-dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology.The autosomal dominant inherited syndromes of Hornstein and Knickenberg (HKS), and Birt, Hogg and Dube (BHDS) are both characterized clinically by the overall spread of multiple flesh coloured papules of the skin. However, it is a matter of debate if colonic neoplasms (adenomas as well as adenocarcinomas) are associated findings in the HKS or rather in the BHDS. Furthermore, histological differences are said to exist between the skin lesions in the two syndromes: whereas perifollicular fibromas were described in the HKS, fibrofolliculomas and trichodiscomas were found in the BHDS. In the present study, we report on a father and his daughter in whom we initially diagnosed a BHDS. We then examined a greater number of the papular lesions in histologic sections cut vertically as well as horizontally to the epidermis. Our results indicate that the histologic differences between the skin lesions in the two syndromes are artificial ones, caused by interpretation of different sectioning planes, and that consequently HKS and BHDS are the same. Therefore, it is necessary to look for colonic polyps in the syndrome in question, regardless if one prefers the name HKS or BHDS for it.- - - - - - - - - - ranking = 1keywords = aid (Clic here for more details about this article) |
3/346. Ocular changes in mucopolysaccharidosis iv A (Morquio A syndrome) and long-term results of perforating keratoplasty.BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. visual acuity OD cc = 0.16, OS cc = 0.05. electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.- - - - - - - - - - ranking = 1keywords = aid (Clic here for more details about this article) |
4/346. An aggressive form of polyarticular arthritis in a man with CD154 mutation (X-linked hyper-IgM syndrome).Hyper-IgM syndrome (HIM) is a rare immunodeficiency disorder that has been associated with the development of symptoms and clinical features characteristic of rheumatoid arthritis (RA). We describe a patient with HIM and severe erosive arthritis with prominent nodules in the absence of detectable serum rheumatoid factor. Because HIM results from defects in either T cell CD154 (cd40 ligand) expression or abnormal CD40 signaling, the molecular basis of the patient's disease was analyzed. Activated CD4 T cells failed to express surface CD154 protein, and molecular analysis of CD154 complementary dna revealed a nucleotide transversion resulting in the nonconservative amino acid substitution G-D at amino acid 257. This case indicates that defective CD154-dependent CD40 signaling can be associated with susceptibility to a severe inflammatory arthritis that has both similarities to and differences from idiopathic RA.- - - - - - - - - - ranking = 62.654673148keywords = immunodeficiency (Clic here for more details about this article) |
5/346. albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.We report on two sibs and two other unrelated patients with agenesis of corpus callosum, oculocutaneous albinism, repeated infections, and cardiomyopathy. All manifested postnatal growth retardation, microcephaly, and profound developmental delay. Additional central nervous system anomalies present in at least one patient included hypoplasia of the cerebellar vermis, white matter neuronal heterotopia, or bilateral schizencephaly. Repeated viral, bacterial, and fungal infections were consistent with a primary immunodeficiency. However, immunological studies showed variable, nonspecific findings. Cardiomyopathy with progressive heart failure or infection led to death before age 2 years in three of the patients. This syndrome was first described by Vici et al. [1988: Am. J. Med. Genet. 29:1-8]. The four patients reported herein confirm this unique disorder. Affected sibs of both sexes born to unaffected parents provide evidence for autosomal recessive inheritance.- - - - - - - - - - ranking = 62.654673148keywords = immunodeficiency (Clic here for more details about this article) |
6/346. Successful unrelated umbilical cord blood transplantation in a child with Omenn's syndrome.Omenn's syndrome is a variant of combined immunodeficiency disease (CID). Like other CID forms, it causes death unless the patient receives a bone marrow transplant (BMT). Previous reports have shown that BMTs from unrelated donors in Omenn's syndrome have very poor results, with a high rate of infections during transplantation and graft rejection, when compared with transplants from related donors or patients with other CID. This study discusses the case of a 19-month-old child with Omenn's syndrome, who received an unrelated cord blood stem cell transplant (CBT). Donor and recipient had 1 HLA-Ag mismatched on HLA-B. Symptomatology improved early after CBT. The child achieved leukocytes and platelet engraftment and was discharged on day 34. His follow-up has been uneventful and at this time, 27 months after CBT, immune functions have been recovered.- - - - - - - - - - ranking = 62.654673148keywords = immunodeficiency (Clic here for more details about this article) |
7/346. diagnosis of Chilaiditi's syndrome with abdominal ultrasound.Chilaiditi's sign is a radiographic term used when the hepatic flexure of the colon is seen interposed between the liver and right hemidiaphragm. When symptomatic, this is Chilaiditi's syndrome. We report a case of a 70-year-old man who presented with abdominal pain, vomiting, singultus and constipation. Ultrasound was initially performed which showed an intestinal loop between the anterior surface of the right liver lobe and the diaphragm. The chest X-ray revealed colon gas under the right diaphragma and the abdominal CT-scan confirmed the hepatodiaphragmatic interposition of the colon. Colonic elongation and laxity of colonic and hepatic suspensory ligaments are the principal predisposing factors. The advantages of the abdominal ultrasound in the diagnosis and follow-up as well as possible complications and forms of therapy with this syndrome are discussed.- - - - - - - - - - ranking = 6keywords = aid (Clic here for more details about this article) |
8/346. An infectious mononucleosis-like syndrome induced by minocycline: a third pattern of adverse drug reaction.A 22-year-old black man developed fever, chills, fatigue, night sweats, tender lymphadenopathy, and a generalized, pruritic, macular eruption 3 weeks after starting minocycline therapy for acne. His illness was also characterized by a palpable spleen tip, marked lower extremity and scrotal edema, and generalized lymphadenopathy. The patient had leukocytosis with a large percentage of atypical lymphocytes on peripheral smear and liver dysfunction. Titers for Epstein-Barr virus, hepatitis b, toxoplasmosis; and cytomegalovirus were all negative. Human immunodeficiency virus-1 viral load and antibodies were also negative. Marked improvement was noted after the discontinuation of minocycline and the use of systemic corticosteroids. With the negative viral serologies, the clinical picture was most consistent with an infectious mononucleosis-like syndrome produced by the minocycline ingestion.- - - - - - - - - - ranking = 62.654673148keywords = immunodeficiency (Clic here for more details about this article) |
9/346. Splenic flexure volvulus in association with chilaiditi syndrome: report of a case.Hepatodiaphragmatic interposition of the intestine, or chilaiditi syndrome, is uncommon and typically asymptomatic, but it can be associated with symptoms ranging from intermittent, mild abdominal pain to acute intestinal obstruction. Factors such as the interruption or absence of peritoneal attachments and redundant colon with a long mesentery predispose to both chilaiditi syndrome and colonic volvulus. The presence of hepatodiaphragmatic interposition of the intestine requires no specific treatment in the absence of symptoms. Colonic volvulus in association with chilaiditi syndrome is treated based on the location of the volvulus. Volvulus of the splenic flexure is typically treated with resection and primary anastomosis. We report only the third case of colonic volvulus in association with chilaiditi syndrome and the first with volvulus of the splenic flexure.- - - - - - - - - - ranking = 8keywords = aid (Clic here for more details about this article) |
10/346. Floppy eyelid syndrome: a diagnostic dilemma.BACKGROUND: Floppy eyelid syndrome may be the underlining cause of papillary keratoconjunctivitis. patients initially report a nonspecific irritation, redness, or a foreign body sensation. methods: As a result of its vague presentation, floppy eyelid syndrome is frequently misdiagnosed. A careful slit-lamp evaluation and a complete history aids in the diagnosis. CONCLUSIONS: The most distinctive feature of floppy eye syndrome is a pliant upper tarsus that is easily everted without excess manipulation. Histopathology has attributed the laxity of the lid to a decreased amount of elastin within the tarsus. Treatment includes prevention of the upper lid from everting during sleep or surgical procedures such as horizontal eyelid shortening. Our case report illustrates a patient with a classic case of floppy eyelid syndrome.- - - - - - - - - - ranking = 1keywords = aid (Clic here for more details about this article) |
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