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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The differential diagnosis of familial macrothrombocytopenia and idiopathic thrombocytopenic purpura (ITP) may be difficult owing to the similarities in their clinical and laboratory presentations, but it is important because of dissimilarities in their management and prognosis. We investigated two families with familial macrothrombocytopenia and granulocyte inclusion. The probands of both families presented with mild bleeding tendency, macrothrombocytopenia, normal bone marrow, and increased percentages of platelet-associated immunoglobulin G (IgG) and reticulated platelets. ITP had been misdiagnosed in both patients initially. Both probands failed to respond to steroid therapy. Family study revealed an autosomal dominant pattern of heredity in both families, with absence of Alport's syndrome-like features (hearing impairment, congenital cataract, and interstitial nephritis). All thrombocytopenic family members showed blue cytoplasmic inclusions in neutrophils on peripheral blood smears. Ultrastructurally, distinct granulocyte inclusions comprising clusters of rough endoplasmic reticulum, smooth endoplasmic reticulum, and polysomes were detected, without the presence of parallel filaments. The clinical, laboratory, and hereditary findings were consistent with a diagnosis of Sebastian platelet syndrome in both families. In conclusion, caution should be exercised when interpreting the percentages of platelet-associated IgG in thrombocytopenic patients, as overinterpretation may lead to misdiagnosis of macrothrombocytopenia as ITP. Family history is important, as familial ITP is rare, and careful examination of blood smears is essential.
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PMID:Familial macrothrombocytopenia with granulocyte inclusion: a clinical and laboratory problem. 950 47

Fechtner syndrome is an autosomal-dominant variant of Alport syndrome, manifested by nephritis, sensorineural hearing loss, cataract formation, macrothrombocytopenia, and polymorphonuclear inclusion bodies. As opposed to autosomal-recessive and X-linked Alport syndromes, which have been genetically well studied, the genetic basis of Fechtner syndrome remains elusive. We have mapped the disease-causing gene to the long arm of chromosome 22 in an extended Israeli family with Fechtner syndrome plus impaired liver functions and hypercholesterolemia in some individuals. Six markers from chromosome 22q yielded a LOD score >3.00. A maximum two-point LOD score of 7.02 was obtained with the marker D22S283 at a recombination fraction of 0. Recombination analysis placed the disease-causing gene in a 5.5-Mb interval between the markers D22S284 and D22S1167. No collagen genes or genes comprising the basement membrane have been mapped to this region.
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PMID:Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. 1057 25

Alport syndrome is an inherited disorder of type IV collagen, a major constituent of basement membranes. Eighty-five percent of cases are transmitted through X-linked dominant inheritance, although autosomal dominant and autosomal recessive inheritance has also been reported. Clinical manifestations of Alport syndrome include progressive glomerulopathy, sensorineural deafness, anterior lenticonus, posterior corneal dystrophy, and abnormal retinal pigmentation. Anterior lenticonus may lead to loss of vision because of progressive myopia or cataract formation. We report 2 cases of unusual cataract formation in adolescent boys who had a rupture of the anterior lens capsule. One rupture was spontaneous, and the other was traumatic.
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PMID:Rupture of the anterior lens capsule in Alport syndrome. 1104 Apr 88

Families with 3 different syndromes characterized by autosomal dominant inheritance of low platelet count and giant platelets were studied. Fechtner syndrome is an autosomal-dominant variant of Alport syndrome manifested by nephritis, sensorineural hearing loss, and cataract formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies. Sebastian platelet syndrome is an autosomal-dominant macrothrombocytopenia combined with neutrophil inclusions that differ from those found in May-Hegglin syndrome or Chediak-Higashi syndrome or the Dohle bodies described in patients with sepsis. These inclusions are, however, similar to those described in Fechtner syndrome. Other features of Alport syndrome, though, including deafness, cataracts, and nephritis, are absent in Sebastian platelet syndrome. Epstein syndrome is characterized by macrothrombocytopenia without neutrophil inclusions, in addition to the classical Alport manifestations-deafness, cataracts, and nephritis-and it is also inherited in an autosomal-dominant mode. We mapped the disease-causing gene to the long arm of chromosome 22 in an Italian family with Fechtner syndrome, 2 German families with the Sebastian platelet syndrome, and an American family with the Epstein syndrome. Four markers on chromosome 22q yielded an LOD score greater than 2.76. A maximal 2-point LOD score of 3.41 was obtained with the marker D22S683 at a recombination fraction of 0.00. Recombination analysis placed the disease-causing gene in a 3.37-Mb interval between the markers D22S284 and D22S693. The disease-causing gene interval in these 3 syndromes is similar to the interval described recently in an Israeli family with a slightly different Fechtner syndrome than the one described here. Recombination analysis of these 3 syndromes refines the interval containing the disease-causing gene from 5.5 Mb to 3.37 Mb. The clinical likeness and the similar interval containing the disease-causing gene suggest that the 3 different syndromes may arise from a similar genetic defect.
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PMID:Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. 1107 40

The leiomyoma of the esophagus is very rare in children, contrary to what has been observed in adults, with only 26 cases reported up to now. In this paper we present the case of a 9 year-old child in which the tumor was located in the abdominal esophagus, being progressive dysphagia its most important manifestation. Diagnosis was done during the surgical procedure, and the treatment involved sub-total esophagotomy and pyloroplasty, with ulterior esophageal substitution for a colon segment. The only post-surgical complication was dumping which resulted from the pyloroplasty. Its symptoms receded with appropriate diet. The review of the literature shows that leiomyomas in children may be diffuse or located, the former being the more common case (90%). Twelve children presented association with Alport's syndrome (nephropathy with hematuria, deafness and cataract) while others had hiatus hernia, esophageal peptic ulcer and cholelithiasis. In two children the tumor affected the tracheo-bronchial tree, and in four girls there was vulvar or perianal hypertrophy. Finally, there is a rarer kind of tumor in the esophageal muscular layer called benign idiopathic hypertrophy, which has been described for six children. Its basic histological characteristic is non neoplastic hyperplasia of the cells of the internal muscular layer. We conclude that the leiomyomas of the esophagus, although rare, must be considered in the differential diagnosis of the mediastinal mass and the esophageal stenosis in children.
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PMID:[Leiomyoma of the esophagus in children - case report and review of the literature]. 1468 44

Alport syndrome is a hereditary, progressive disease characterized by progressive nephritis, sensorineural deafness, and ocular abnormalities, including anterior lenticonus. The ultrastructure of the lens capsule abnormalities in Alport syndrome is reported. Four anterior lens capsules from 31-year-old patient and 26-year-old patient with lenticonus who were affected by the Alport syndrome were obtained at capsulectomy. And all four anterior lens capsules were examined by transmission electron microscopy. The histopathologic findings showed that the thickness of the anterior lens capsules was decreased (4-13 microm) and that there were many vascular dehiscences localized at the inner part of the lens capsule. There were large numbers of capsular dehiscences containing fibrillar materials and vacuoles. The anterior capsules were clearly fragile in this disease, forming the basis for the progressive lenticonus and anterior polar cataract.
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PMID:Anterior lens capsule abnormalities in Alport syndrome. 1592 94

Eleven eyes of 6 patients with Alport syndrome had phacoemulsification with implantation of a single-piece acrylic hydrophobic intraocular lens (IOL) (AcrySof SA6OAT, Alcon) because of anterior lenticonus. All patients had excellent visual acuity after surgery. We recommend phacoemulsification with IOL implantation as a safe and effective procedure in patients with anterior lenticonus secondary to Alport syndrome.
J Cataract Refract Surg 2007 Jun
PMID:Phacoemulsification and intraocular lens implantation in Alport syndrome with anterior lenticonus. 1816 55

We report the ocular manifestations of Alport syndrome and the surgical results in 4 patients. All 4 patients had anterior lenticonus; 2 also had posterior lenticonus in both eyes, 3 had flecked retina, and 1 had posterior polymorphous dystrophy. In both eyes of the 4 patients, phacoemulsification with intraocular lens (IOL) implantation was performed to treat anterior and posterior lenticonus. The postoperative visual acuity was excellent in all patients. We recommend phacoemulsification with IOL implantation as a safe and effective procedure in patients with lenticonus secondary to Alport syndrome.
J Cataract Refract Surg 2009 Jul
PMID:Ocular manifestations and surgical results in patients with Alport syndrome. 2011 41

MYH9-related disorders are rare causes of chronic kidney disease (CKD) presenting as chronic glomerulonephritis and derive from mutations of the MYH9 gene, which encodes for the nonmuscle myosin heavy chain IIA. These disorders are autosomal dominant and include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. Diagnosis of these disorders is made first in early childhood because of the characteristic peripheral-blood smear findings of thrombocytopenia, giant platelets, and variably detected basophilic cytoplasmic inclusion bodies in leukocytes. CKD typically develops later in adulthood and may progress to end-stage renal disease. MYH9-related disorders may be associated with deafness and cataract; hence, Alport syndrome becomes important in the differential diagnosis. However, the autosomal dominance pattern of inheritance and characteristic peripheral-blood smear findings in the former help differentiate the two conditions. New evidence suggests that MYH9 gene alterations also are associated with a greater risk of focal segmental glomerulosclerosis and hypertensive nephrosclerosis in African Americans. The purpose of this review is to focus on the known, but rarely recognized association of MYH9-related disorders with CKD and highlight the recent discoveries related to the MYH9 gene that may explain the reason for a high CKD burden in African Americans.
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PMID:CKD in MYH9-related disorders. 1972 16

We present the case of an Alport syndrome patient whose anterior lenticonus was detected by wavefront analysis and Scheimpflug imaging technology. The patient's lenticular abnormalities were too subtle to be detected by the initial slitlamp examination. Normal corneal topography and elevation maps with high total-eye aberrations pointed to internal optics as the source of aberrations, and predominant negative spherical aberrations suggested anterior lenticonus, a diagnosis confirmed by Scheimpflug images that showed central bulging of the anterior lens surface. Following diagnosis, uneventful phacoemulsification and intraocular lens implantation were performed. We recommend wavefront analysis and Scheimpflug imaging technology as effective tools in the detection of lens disorders, especially those that are too subtle to be observed by other examination methods.
J Cataract Refract Surg 2010 May
PMID:Wavefront analysis and Scheimpflug imagery in diagnosis of anterior lenticonus. 2045 81


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