1/442. A case of Austrian's syndrome with ocular involvement.A man with a history of alcohol abuse was admitted to hospital with pneumonia and meningitis due to streptococcus pneumoniae. Because of the worsening of respiratory function and the persistence of fever, an echocardiographic examination was made, which showed endocarditis with destruction of the aortic valve. The patient underwent surgical valve replacement. In addition, he showed a choroiditis in the left eye which improved after antibiotic therapy. The interest of this case lies in the rarity of the triad described as Austrian's syndrome and in the coexistent fourth septic localization, namely in the left eye.- - - - - - - - - - ranking = 1keywords = pneumonia (Clic here for more details about this article) |
2/442. monosomy 18q syndrome and atypical rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of rett syndrome. cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defined by molecular analysis with polymorphic markers as a de novo interstitial deletion, paternally derived. The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years. She did not have microcephaly, and the mental delay was obvious from an early age without a period of normal development, which makes the diagnosis of rett syndrome atypical. Previously, a girl with mosaicism for a monosomy 18q associated with rett syndrome has been described. That girl had a terminal deletion of chromosome 18q, which seems to coincide in part with that in the present girl. It is possible that genes in the distal region of 18q are involved in the etiology of rett syndrome.- - - - - - - - - - ranking = 64.313071003361keywords = interstitial (Clic here for more details about this article) |
3/442. cytomegalovirus associated neonatal pneumonia and Wilson-Mikity syndrome: a causal relationship?lung injury caused by intrauterine inflammation has recently been strongly implicated in the pathogenesis of Wilson-Mikity syndrome (WMS). This article supports this theory by suggesting a causative role of intrauterine cytomegalovirus (CMV) infection for the development of WMS. A male premature infant, born at 33 weeks of gestational age, developed chronic lung disease compatible with WMS and diagnostic evaluation was positive for CMV infection. High-resolution computed tomography scan and lung histology revealed typical features of WMS in association with signs of interstitial pneumonia. CMV was found in urine, breastmilk, bronchoalveolar lavage material and lung tissue from open lung biopsy. Follow-up after treatment with ganciclovir and steroids showed resolving lung disease at the age of 6, 10 and 16 months, with lung function signs of mild obstruction. Assuming that a chance coexistence of cytomegalovirus pneumonia and Wilson-Mikity syndrome is rather unlikely, it is possible that intrauterine cytomegalovirus infection caused a pattern of lung injury consistent with Wilson-Mikity syndrome. Further cases of Wilson-Mikity syndrome should be investigated as to a possible role of congenital infection.- - - - - - - - - - ranking = 14.787596282646keywords = interstitial, interstitial pneumonia, pneumonia (Clic here for more details about this article) |
4/442. Delineation of two distinct 6p deletion syndromes.Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.- - - - - - - - - - ranking = 10.718845167227keywords = interstitial (Clic here for more details about this article) |
5/442. Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.We describe 5 children from 2 families with mutations in the cd40 ligand (CD40L) gene leading to absent expression of CD40L on activated CD4 cells. All subjects presented with interstitial pneumonia with low serum IgG and normal serum IgM. One child had normal and one child had elevated serum IgA. Four had confirmed pneumocystis carinii pneumonia. In spite of intravenous immunoglobulin treatment yielding therapeutic serum immunoglobulin levels, 3 children had enteroviral encephalitis. When assessed by flow cytometry, the 3 surviving affected male children had absent CD40L expression on activated CD4( ) T cells. The affected children from both families were shown to have the same single nucleotide insertion (codon 131) resulting in frameshift and early termination within exon 4 (extracellular domain). This observation demonstrates that persistent enteroviral infection is not only observed in X-linked agammaglobulinemia but may also occur in patients with X-linked hyper IgM syndrome.- - - - - - - - - - ranking = 12.787596282646keywords = interstitial, interstitial pneumonia, pneumonia (Clic here for more details about this article) |
6/442. pyoderma gangrenosum complicating Cogan's syndrome.Cogan's syndrome is a rare clinical entity defined by the association of a nonsyphilitic interstitial keratitis and vestibuloauditory dysfunction, typically Meniere's disease-like; the condition has been reported in association with a variety of cutaneous diseases. We now report a case of pyoderma gangrenosum complicating Cogan's syndrome in a 57-year-old woman, which then healed dramatically, as more interestingly did the associated uveitis with minocycline therapy.- - - - - - - - - - ranking = 10.718845167227keywords = interstitial (Clic here for more details about this article) |
7/442. Interstitial nephritis and uveitis syndrome presenting with bilateral optic disk edema.PURPOSE: To report a rare presentation of the tubulointerstitial nephritis and uveitis syndrome. METHOD: Case report. A 34-year-old woman underwent extensive clinical and laboratory evaluation of bilateral intermediate uveitis and optic nerve edema. RESULTS: Laboratory evaluation and nephrology consultation led to a diagnosis of tubulointerstitial nephritis. The condition resolved with the use of topical and systemic corticosteroids and the discontinuation of ibuprofen. CONCLUSIONS: Tubulointerstitial nephritis and uveitis syndrome is uncommon. It may present with anterior or intermediate uveitis. Chronic intermediate uveitis can cause optic nerve and macular edema. A thorough medical evaluation of any patient presenting with uveitis and systemic disease is essential to the diagnosis and management of uveitis.- - - - - - - - - - ranking = 32.15653550168keywords = interstitial (Clic here for more details about this article) |
8/442. Systemic sarcoidosis and cutaneous lymphoma: is the association fortuitous?The association of systemic sarcoidosis and malignant lymphoma is known as the 'sarcoidosis-lymphoma syndrome'. Cutaneous involvement is rare in this syndrome. We report a 52-year-old woman who was diagnosed as having tumour-stage mycosis fungoides. Complete remission was achieved by combination therapy consisting of isotretinoin, interferon (IFN) alpha, electron beam irradiation, photochemotherapy and topical corticosteroids. Three years later, the patient developed systemic sarcoidosis characterized by yellowish papules on the abdominal wall and the eyelids that histologically revealed non-caseating granulomas, multiple fine-nodular interstitial pulmonary infiltrates on chest X-ray, hilar lymphadenopathy, decreased vital capacity and increased lymphocyte count in bronchoalveloar lavage fluid. As opposed to most of the reported cases, in our patient the manifestation of cutaneous lymphoma preceded the diagnosis of systemic sarcoidosis. We review the cases reported in the literature and discuss a possible causal and temporal relationship as well as the role of IFN alpha in the development of sarcoidosis.- - - - - - - - - - ranking = 10.718845167227keywords = interstitial (Clic here for more details about this article) |
9/442. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. methods: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.- - - - - - - - - - ranking = 10.718845167227keywords = interstitial (Clic here for more details about this article) |
10/442. Acute eosinophilic interstitial nephritis and uveitis (TINU syndrome) associated with granulomatous hepatitis.A 23-year-old male presented with renal failure, cholestatic liver enzyme elevation and uveitis. Percutaneous renal biopsy revealed marked eosinophilic infiltration of the renal interstitium, which made the diagnosis of TINU syndrome (Tubulo-Interstitial nephritis and uveitis). Percutaneous liver biopsy showed granulomatous hepatitis, which was not described as a part of TINU syndrome. The diagnostic dilemma and the literature are discussed.- - - - - - - - - - ranking = 42.875380668907keywords = interstitial (Clic here for more details about this article) |
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