Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report supravalvular aortic stenosis in a 12 year old patient who presented with mental retardation, malformed teeth, broad lower lips, pectus carinatum, clinodactyly, kyphoscoliosis with symptoms of shortness of breath. On examination presence of better volume pulse in right radial artery with ejection systolic murmur best heard in right 2(nd) intercostal space were noted. Patient was diagnosed as having William's syndrome with investigations demonstrating Supravalvular aortic stenosis with a gradient of 170 mm Hg.
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PMID:Supravalvular aortic stenosis in William's syndrome. 2197 93

A 22-year-old African American female patient presented with a sudden onset of difficulty in breathing for approximately 2 days accompanied by bilateral pleuritic chest pain. Her past medical history was significant for tuberous sclerosis and mental retardation. Preliminary radiographic imaging showed bilateral pneumothoraces for which bilateral chest tubes were subsequently inserted. A computed tomography scan of the chest showed cystic changes compatible with lymphangioleiomyomytosis (LAM). She underwent a video-assisted thoracoscopy with pleurodesis and an open lung biopsy for the confirmation of the diagnosis. Cystic changes involving the visceral pleura were noticed during the procedure. Understanding that "tuberous sclerosis complex" is an illness that could be associated with LAM should prompt clinicians to consider the diagnosis if the patients present with shortness of breath, pneumothorax, diffuse cystic lung changes, or hemoptysis. Hemoptysis results from pulmonary venous hypertension, which is a consequence of LAM. Pleuroscopy or video-assisted thoracoscopy may show unusual findings, as described in this case, which could be pathognomonic for the diagnosis.
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PMID:Lymphangioleiomyomytosis: Are the Findings of Video-assisted Thoracoscopy Pathognomonic? 2316 18

Methemoglobinemia is a rare overlooked differential diagnosis in patients presented with cyanosis and dyspnea unrelated to cardiopulmonary causes. Our patient is 29 year old Indian non-smoker male, his story started 6 months prior to presentation to our center when he had generalized fatigue and discoloration of hands. He presented with persistent polycythemia with elevated hemoglobin level. The patient was misdiagnosed in another center as polycythemia and treated with Imatinib. The diagnosis of PV was revisited and ruled out in view of negative JAK2, normal erythropoietin level and absence of features of panmyelosis. Clinical cyanosis and lowoxygen saturation in the presence of normal arterial oxygen tension was highly suggestive of methemoglobinemia. Arterial blood gas revealed a methemoglobin level of 38% (normal: 0-1.5%). Cytochrome B5 reductase (Methemoglobin reductase B) was deficient at level of <2.6 U/g Hb) (normal: 6.6-13.3), consistent with methemoglobin reductase (cytochrome b5) deficiency and hence the diagnosis of congenital methemoglobinemia was established. The role of Imatinib in provoking methemoglobinemia is questionable and association between Imatinib and methemoglobinemia never described before. In our case, there were no other offending drugs in aggravating the patients' symptoms and cyanosis. The patient started on Vitamin C 500 mg once daily for which he responded well with less cyanosis and significant reduction of methemoglobin level. Congenital methemoglobinemia is a rare underreported hemoglobin disease and often clinically missed. Upon extensive review of English literature for cases of congenital methemoglobinemia due to deficiency of cytochrome b5 reductase, we found 23 cases diagnosed as type I (including the case reported here). 17 cases (~74%) of type I and 6 cases (27%) of type II. There is male predominance 73% versus 26% in females. Almost half of reported cases 12 cases (52%) are Indian, 2 Japanese, 3 English, 2 Arabic, one case Spanish and one case Italian. For type I, the median calculated age is 31 years with cyanosis and shortness of breath being the most common sign and symptoms. For type II: Six cases were reported in English literature, all in pediatric age group with median calculated age at presentation is 6 years with neurologic manifestations and mental retardation are the most common type II associated symptoms. Due to lack of systematic epidemiological studies, congenital methemoglobinemia is under diagnosed as it is under investigated and usually overlooked especially when presenting in adulthood and in absence of obvious acquired agents.
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PMID:Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. 2972 Dec 50